Archive for September, 2022

There's more than 100 different types of cancers and pancreatic canceris considered one of the deadliest because there's oftentimes no early warning signs. It's not diagnosed until a later stage, which makes treatment challenging. Dr. Tomi Mitchell, a Board-Certified Family Physician with Holistic Wellness Strategies tells us, "Pancreatic cancer is one of the most aggressive and difficult-to-treat forms of cancer. Unfortunately, it is also one of the most common types of cancer, with over 60, 000 new cases diagnosed each year in the United States alone. While many risk factors for pancreatic cancer, some lifestyle choices can increase the likelihood of developing the disease. Here are five lifestyle choices that have been linked to an increased risk of pancreatic cancer." Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

Dr. Mitchell says, "Pancreatic cancer is a type of cancer that starts in the pancreas. The pancreas is a gland located in the abdomen, behind the stomach. The pancreas has two main functions: to produce enzymes that help digest food and hormones, such as insulin, that regulate blood sugar levels. Pancreatic cancer usually starts in the cells lining the pancreas' ducts. These cells are called exocrine cells. Less often, pancreatic cancer begins in the hormone-producing cells of the pancreas, called islet cells. When pancreatic cancer begins in the exocrine cells, it is called exocrine pancreatic cancer. When it starts in the islet cells, it is called an islet cell tumor or neuroendocrine tumor. Most pancreatic cancers are exocrine tumors."6254a4d1642c605c54bf1cab17d50f1e

Dr. Mitchell states, "Pancreatic cancer is a very aggressive form of cancer and is difficult to treat. It seldom causes symptoms in its early stages, so it is often not discovered until it has spread to other body parts. By the time most people are diagnosed with pancreatic cancer, the disease has already spread beyond the pancreas and cannot be cured. However, treatment may help people live longer and improve their quality of life. Pancreatic cancer is one of the few cancers for which there is no widely available screening test, so it is essential to be aware of the signs and symptoms of the disease. If you have any concerns, please consult your doctor. Early diagnosis and treatment of pancreatic cancer can improve survival rates."

"According to the American Cancer Society, smokers are two to three times more likely than nonsmokers to develop pancreatic cancer," Dr. Mitchell shares. "Smoking is thought to be responsible for approximately 25% of all pancreatic cancers. The link between smoking and pancreatic cancer is thought to be due to the many harmful chemicals found in tobacco smoke. These chemicals damage DNA, leading to the development of cancerous cells. Smoking damages the pancreas, making it more difficult for this vital organ to function correctly. This can lead to chronic inflammation, which further increases the risk of pancreatic cancer. Quitting smoking is the best way to reduce the risk of developing this deadly disease."

Dr. Mitchell emphasizes, "Obesity is a major risk factor for pancreatic cancer. Obese people are nearly twice as likely to develop pancreatic cancer as those of average weight. There are several ways in which obesity increases the risk of pancreatic cancer. First, excess fat tissue produces hormones that can promote the growth of cancer cells. Second, obesity increases inflammation throughout the body, which is known to play a role in cancer development. Finally, obesity makes it more difficult for the body to process sugar, leading to insulin resistance and an increased risk of pancreatic cancer. By maintaining a healthy weight, you can help reduce your risk of this deadly disease."

"There is a strong link between diabetes and pancreatic cancer," Dr. Mitchell explains. "People with diabetes have a two- to three-fold higher risk of developing pancreatic cancer than those without diabetes. The link between diabetes and pancreatic cancer is likely due to the high levels of blood sugar associated with diabetes. High blood sugar levels can damage cells and lead to inflammation, both of which can increase the risk of cancer. Pancreatic cancer is also more common in people with type 2 diabetes, the most common form of the disease. This may be because type 2 diabetes is often associated with obesity, another risk factor for pancreatic cancer. If you have diabetes, it's important to control your blood sugar levels and maintain a healthy weight to lower your risk of pancreatic cancer."

Dr. Mitchell says, "A healthy diet is essential for many reasons, including reducing your risk of developing pancreatic cancer. Pancreatic cancer is more common in people who are overweight or obese, and those who consume a diet high in sugar and fat are also at an increased risk. While the exact cause of pancreatic cancer is unknown, it is thought that excess insulin production may play a role. Insulin is a hormone that helps to regulate blood sugar levels, and when blood sugar levels are constantly high, it can damage cells and lead to cancer. A diet high in sugar and fat raises blood sugar levels, increasing pancreatic cancer risk. Additionally, eating a lot of red and processed meats has also been linked to an increased risk of pancreatic cancer. So, if you want to reduce your risk of this disease, it's essential to maintain a healthy weight and eat a balanced diet low in sugar, fat, and red meat."

"A sedentary lifestyle has been linked to an increased risk of pancreatic cancer," Dr. Mitchell tells us. This is likely because a sedentary lifestyle leads to obesity, a known risk factor for pancreatic cancer. In addition, a sedentary lifestyle can lead to inflammation, which is also a risk factor for pancreatic cancer. Finally, a sedentary lifestyle can lead to insulin resistance, another known risk factor for pancreatic cancer. While other factors can contribute to the development of pancreatic cancer, a sedentary lifestyle is considered one of the most important. Therefore, it is essential to stay active and avoid sitting for long periods in order to reduce your risk of pancreatic cancer."

Dr. Mitchell says this "doesn't constitute medical advice and by no means are these answers meant to be comprehensive. Rather, it's to encourage discussions about health choices."

Heather Newgen

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Habits Increasing Your Pancreatic Cancer Risk, Say Medical Experts Eat This Not That - Eat This, Not That

Sophie Jackson, 26, might not be here today if she had listened to her doctor. She noticed a large lump on her right breast, so she decided to have it checked out by her general physician. But the provider told her it was likely due to her menstrual cycle and that they would have to wait another four weeks to see if anything had changed before they could do anything.

But the lump turned out to be anything but ordinary. She was diagnosed with invasive ductal carcinoma, an aggressive form of cancer, a short while later.

I cried my eyes out and first asked if I was going to die and second if I was going to lose all my hair, Jackson said. Other than the lump I had no other symptoms whatsoever. It felt completely random, and the diagnosis was such a shock.

Jackson is no stranger to cancer. She works as an oncology nurse as part of the U.K.s National Health Service (NHS). Given her experience with the issue, she decided to get a second opinion and pushed for a referral to a breast cancer clinic.

She said she was disappointed by her GPs initial reaction.

I felt let down. The doctors initially thought it was nothing purely based on age, she explained. I feel frustrated on the guidance out there with the stereotypical lumps to look for such as being hard or non-moveable as mine met all the criteria to be what they classed as nothing.

She sought the advice of a specialist, who diagnosed her with breast cancer after running a few tests. They caught it late, and Jackson knew she was in for a long, arduous road to recovery. Since being diagnosed in November, she has been through ten rounds of radiotherapy and underwent surgery to remove the tumor.

Jackson is now cancer-free thanks to her quick thinking. She recently returned to work at University Hospitals Dorset and said the experience has left her with a better understanding of what her cancer patients are going through.

Unfortunately, doctors told her that the tumor is likely to return within the next two years considering the aggressive nature of her disease.

While she is happy to be back at work, Jackson is also mourning the chance to be a mother because she went through medically induced menopause during treatment. She now takes regular injections to reduce the amount of estrogen in her body. High levels of the female sex hormone can increase the risk of breast cancer tumors growing.

Jackson is now on a mission to spread the word about her experience. She encourages women of all ages to get checked for breast cancer and to seek a referral if they need a second opinion.

If Id left it four weeks like the GP suggested, it may have spread in that time and Id have been looking at an incurable diagnosis.

Breast cancer is the second most prevalent cancer in the U.S., with 288,000 diagnoses a year. It accounts for 30% of all female cancers in the country.

Jackson also admitted that she was frustrated throughout the experience because she already knew how the process works.

When I was diagnosed it was extremely overwhelming usually you drip feed patient information as it is way too much to take on at once. I didnt have that luxury and instead was instantly aware of facing surgery, chemo, losing my hair and becoming infertile at such a young age. I think my job did help in a way as I didnt have the expected anxieties about chemo, she added.

I knew what would happen, I knew the drugs, and I knew and trusted the people giving it to me which saved a lot of worrying. It felt really strange receiving chemotherapy drugs Id given to other patients before, like an out of body experience. I was also in disbelief seeing my name on the chemo bag and having my details checked when it was usually me on the other side.

She also learned more about what it was like for her patients to lose their hair. Jackson eventually lost all the hair on her head and started wearing scarves instead.

Coming back to work has forced Jackson to face her fears of her cancer coming back, but she is doing her part to help others advocate for proper medical care.

Id just love to spread awareness that cancer can affect you at a young age even with no family history, no genetics, no risk factors other than taking the contraceptive pill, she said. Early detection has saved my life so its so important to check monthly and push to get things checked out. You are never wasting anyones time.

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Oncology Nurse Diagnosed with Cancer After Her Physician Dismissed Her Lump as Probably Nothing - Scrubs Magazine

Putting on weight is one of the easiest things to do, especially during the last couple of years when our lives were completely disrupted. The 'Quarantine 15' is real and John Morton, MD, MPH, MHA, medical director of bariatric surgery at Yale New Haven Health System says, "We are definitely seeing weight gain," Dr. Morton says. "You can put on 30 pounds really quicklyyou can do it in three months." That said, it's time to get back into shape and drop the excess weight. Eat This, Not That! Health spoke with Dr. Hector Perez, a board-certified general and bariatric surgeon with Bariatric Journal who shares how much belly fat is too much for men and how to lose it. Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

Dr. Perez explains, "A common way people use to judge if they have too much abdominal fat is to measure their waistline with a tape measure. Men are considered to have too much abdominal fat if they have a waist measurement of more than 40 inches, while women are considered to have too much abdominal fat if they have a waist measurement of more than 35 inches. Having these measurements is generally considered unhealthy and puts you at greater risk for various health conditions.

To get more accurate results, however, you can get a CT, MRI, or DEXA scan to measure your abdominal fat. These are generally considered more accurate methods, but they're also more expensive and not as readily available. Doctors will usually only recommend these tests if they suspect you have a serious health condition related to your abdominal fat."

Dr. Perez tells us, "Carrying too much abdominal fat is generally considered unhealthy because it's associated with a greater risk of developing various health conditions. These include heart disease, stroke, type 2 diabetes, and certain types of cancer. Abdominal fat also produces hormones and substances that can contribute to inflammation, which has been linked to a variety of health problems."

Dr. Perez reminds us, "Fixing your diet is one of the most effective ways to lose abdominal fat. Eating a diet that's high in whole foods, including plenty of fruits, vegetables, and lean protein, and low in processed foods can help you shed pounds all over, including from your belly. Make sure to also limit refined carbs, sugary drinks, and excessive alcohol intake, as these can all contribute to excess abdominal fat.

"A healthy diet alone isn't enough to lose abdominal fat," Dr. Perez emphasizes. "You'll also need to incorporate regular exercise into your routine. Aim for at least 30 minutes of moderate-intensity cardio per day, and include strength training a few days per week as well. These activities help burn calories and can lead to overall weight loss, which will reduce the amount of fat stored in your abdomen."

According to Dr. Perez, "One of the most important but often overlooked aspects of losing abdominal fat is getting enough sleep. Most adults need around 7-8 hours of sleep per night, but many people get far less than that. When you're tired or have low energy levels, you're more likely to make poor food choices and be less active, both of which can contribute to weight gain. So make sure you're getting enough shut-eye each night to help support your weight loss efforts."6254a4d1642c605c54bf1cab17d50f1e

Dr. Perez says, "Experiencing high levels of stress can also lead to weight gain. When you're stressed, your body releases cortisol, a stress hormone that can trigger your appetite. This is why people often turn to food for comfort when they're feeling stressed. Find ways to manage your stress levels through relaxation techniques like yoga or meditation, and make an effort to reduce the amount of stress in your life."

Heather Newgen

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Are You a Man With "Too Much" Abdominal Fat? Here's How to Lose it Eat This Not That - Eat This, Not That

-- Progression-Free Survival Efficacy of Trodelvy Consistent with That Observed in the TROPiCS-02 Intention-to-Treat Population --

-- Results Presented at ESMO 2022 Highlight Trodelvy as a Potential Treatment Option in HR+/HER2-Low and IHC0 Status Metastatic Breast Cancer --

FOSTER CITY, Calif.--(BUSINESS WIRE)--Gilead Sciences, Inc. (Nasdaq: GILD) today announced new data from a post hoc subgroup analysis from the Phase 3 TROPiCS-02 study evaluating Trodelvy (sacituzumab govitecan-hziy) versus comparator chemotherapies (physicians choice of chemotherapy, TPC) in patients with HR+/HER2- metastatic breast cancer who progressed on endocrine-based therapies and at least two chemotherapies. The analysis examined progression-free survival (PFS) in the intention-to-treat population by HER2-immunohistochemistry (IHC) status, and the results demonstrated that Trodelvy improved median PFS vs. TPC in both HER2-low (IHC1+ and IHC2+/ISH-negative) and IHC0 groups.

Summary of results:

HER2-low

IHC0

ITT

Trodelvy arm(n=149)

TPC arm(n=134)

Trodelvy arm(n=101)

TPC arm(n=116)

Trodelvy arm(n=272)

TPC arm(n=271)

Median PFS(months)

6.4

4.2

5.0

3.4

5.5

4.0

Hazard ratio(95% confidenceinterval)p-value

0.58(0.42-0.79)

0.72(0.51-1.00)

0.66(0.53 0.83)p=0.0003

Detailed findings will be presented at a mini-oral session (Abstract #1362) during the European Society for Medical Oncology (ESMO) Congress 2022 in the vry Auditorium, Paris Expo Porte de Versailles, on September 10.

These data demonstrate Trodelvys efficacy across HER2-low and IHC0 status in pre-treated metastatic breast cancer patients in the TROPiCS-02 trial, said Professor Peter Schmid, Professor of Cancer Medicine; Centre Lead, Centre of Experimental Cancer Medicine; Director, Barts Breast Cancer Centre. Once patients have developed resistance to endocrine-based therapies, their prognosis is extremely poor. The results highlight the potential for Trodelvy as a treatment option for people living with pre-treated HR+/HER2- metastatic breast cancer, regardless of their HER2-negative status.

These results show Trodelvy improved progression-free survival regardless of HER2 status in this pre-treated patient population and reinforce the strength of clinical activity in a population where need is highest, said Bill Grossman, MD, PhD, Senior Vice President, Therapeutic Area Head, Gilead Oncology. Trodelvy is already transforming the standard of care in second-line metastatic triple-negative breast cancer, and were excited about its potential in other breast cancers where there is significant need for new treatment options.

In the study, HER2 negativity was defined per American Society of Clinical Oncology (ASCO) and the College of American Pathologists (CAP) criteria as immunohistochemistry (IHC) score of 0, IHC 1+ or IHC 2+ with a negative in-situ hybridization (ISH) test.

Trodelvy has not been approved by any regulatory agency for the treatment of HR+/HER2- metastatic breast cancer. Its safety and efficacy have not been established for this indication. Gilead has submitted a supplemental Biologics License Application (sBLA) to the U.S. Food and Drug Administration (FDA) based on data from TROPiCS-02; these data will also be shared with health authorities outside the U.S.

Sacituzumab govitecan is currently included in the National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology (NCCN Guidelines)i. This includes a Category 1 recommendation for use in adult patients with second-line metastatic triple-negative breast cancer (defined as those who received at least two prior therapies, with at least one line for metastatic disease). It also has a Category 2A preferred recommendation for investigational use in HR+/HER2- advanced breast cancer after prior treatment including endocrine therapy, a CDK4/6 inhibitor and at least two lines of chemotherapy.

Trodelvy has a Boxed Warning for severe or life-threatening neutropenia and severe diarrhea; please see below for additional Important Safety Information.

About HR+/HER2- Breast Cancer

Hormone receptor-positive/human epidermal growth factor receptor 2-negative (HR+/HER2-) breast cancer is the most common type of breast cancer and accounts for approximately 70% of all new cases, or nearly 400,000 diagnoses worldwide each year. Almost one in three cases of early-stage breast cancer eventually become metastatic, and among patients with HR+/HER2- metastatic disease, the five-year relative survival rate is 30%. As patients with HR+/HER2- metastatic breast cancer become resistant to endocrine-based therapy, their primary treatment option is limited to single-agent chemotherapy. In this setting, it is common to receive multiple lines of chemotherapy regimens over the course of treatment, and the prognosis remains poor.

About the TROPiCS-02 Study

The TROPiCS-02 study is a global, multicenter, open-label, Phase 3 study, randomized 1:1 to evaluate Trodelvy versus physicians choice of chemotherapy (eribulin, capecitabine, gemcitabine, or vinorelbine) in 543 patients with HR+/HER2- metastatic breast cancer who were previously treated with endocrine therapy, CDK4/6 inhibitors and two to four lines of chemotherapy for metastatic disease. The primary endpoint is progression-free survival per Response Evaluation Criteria in Solid Tumors (RECIST 1.1) as assessed by blinded independent central review (BICR) for participants treated with Trodelvy compared to those treated with chemotherapy. Secondary endpoints include overall survival, overall response rate, clinical benefit rate and duration of response, as well as assessment of safety and tolerability and quality of life measures. More information about TROPiCS-02 is available at https://clinicaltrials.gov/ct2/show/NCT03901339.

About Trodelvy

Trodelvy (sacituzumab govitecan-hziy) is a first-in-class Trop-2 directed antibody-drug conjugate. Trop-2 is a cell surface antigen highly expressed in multiple tumor types, including in more than 90% of breast and bladder cancers. Trodelvy is intentionally designed with a proprietary hydrolyzable linker attached to SN-38, a topoisomerase I inhibitor payload. This unique combination delivers potent activity to both Trop-2 expressing cells and the microenvironment.

Trodelvy is approved in more than 35 countries, with multiple additional regulatory reviews underway worldwide, for the treatment of adult patients with unresectable locally advanced or metastatic triple-negative breast cancer (TNBC) who have received two or more prior systemic therapies, at least one of them for metastatic disease. Trodelvy is also approved in the U.S. under the accelerated approval pathway for the treatment of adult patients with locally advanced or metastatic urothelial cancer (UC) who have previously received a platinum-containing chemotherapy and either programmed death receptor-1 (PD-1) or programmed death-ligand 1 (PD-L1) inhibitor.

Trodelvy is also being developed for potential investigational use in other TNBC and metastatic UC populations, as well as a range of tumor types where Trop-2 is highly expressed, including hormone receptor-positive/human epidermal growth factor receptor 2-negative (HR+/HER2-) metastatic breast cancer, metastatic non-small cell lung cancer (NSCLC), metastatic small cell lung cancer (SCLC), head and neck cancer, and endometrial cancer.

U.S. Indications for Trodelvy

In the United States, Trodelvy is indicated for the treatment of:

U.S. Important Safety Information for Trodelvy

BOXED WARNING: NEUTROPENIA AND DIARRHEA

CONTRAINDICATIONS

WARNINGS AND PRECAUTIONS

Neutropenia: Severe, life-threatening, or fatal neutropenia can occur and may require dose modification. Neutropenia occurred in 61% of patients treated with Trodelvy. Grade 3-4 neutropenia occurred in 47% of patients. Febrile neutropenia occurred in 7%. Withhold Trodelvy for absolute neutrophil count below 1500/mm3 on Day 1 of any cycle or neutrophil count below 1000/mm3 on Day 8 of any cycle. Withhold Trodelvy for neutropenic fever.

Diarrhea: Diarrhea occurred in 65% of all patients treated with Trodelvy. Grade 3-4 diarrhea occurred in 12% of patients. One patient had intestinal perforation following diarrhea. Neutropenic colitis occurred in 0.5% of patients. Withhold Trodelvy for Grade 3-4 diarrhea and resume when resolved to Grade 1. At onset, evaluate for infectious causes and if negative, promptly initiate loperamide, 4 mg initially followed by 2 mg with every episode of diarrhea for a maximum of 16 mg daily. Discontinue loperamide 12 hours after diarrhea resolves. Additional supportive measures (e.g., fluid and electrolyte substitution) may also be employed as clinically indicated. Patients who exhibit an excessive cholinergic response to treatment can receive appropriate premedication (e.g., atropine) for subsequent treatments.

Hypersensitivity and Infusion-Related Reactions: Serious hypersensitivity reactions including life-threatening anaphylactic reactions have occurred with Trodelvy. Severe signs and symptoms included cardiac arrest, hypotension, wheezing, angioedema, swelling, pneumonitis, and skin reactions. Hypersensitivity reactions within 24 hours of dosing occurred in 37% of patients. Grade 3-4 hypersensitivity occurred in 2% of patients. The incidence of hypersensitivity reactions leading to permanent discontinuation of Trodelvy was 0.3%. The incidence of anaphylactic reactions was 0.3%. Pre-infusion medication is recommended. Observe patients closely for hypersensitivity and infusion-related reactions during each infusion and for at least 30 minutes after completion of each infusion. Medication to treat such reactions, as well as emergency equipment, should be available for immediate use. Permanently discontinue Trodelvy for Grade 4 infusion-related reactions.

Nausea and Vomiting: Nausea occurred in 66% of all patients treated with Trodelvy and Grade 3 nausea occurred in 4% of these patients. Vomiting occurred in 39% of patients and Grade 3-4 vomiting occurred in 3% of these patients. Premedicate with a two or three drug combination regimen (e.g., dexamethasone with either a 5-HT3 receptor antagonist or an NK1 receptor antagonist as well as other drugs as indicated) for prevention of chemotherapy-induced nausea and vomiting (CINV). Withhold Trodelvy doses for Grade 3 nausea or Grade 3-4 vomiting and resume with additional supportive measures when resolved to Grade 1. Additional antiemetics and other supportive measures may also be employed as clinically indicated. All patients should be given take-home medications with clear instructions for prevention and treatment of nausea and vomiting.

Increased Risk of Adverse Reactions in Patients with Reduced UGT1A1 Activity: Patients homozygous for the uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1)*28 allele are at increased risk for neutropenia, febrile neutropenia, and anemia and may be at increased risk for other adverse reactions with Trodelvy. The incidence of Grade 3-4 neutropenia was 67% in patients homozygous for the UGT1A1*28, 46% in patients heterozygous for the UGT1A1*28 allele and 46% in patients homozygous for the wild-type allele. The incidence of Grade 3-4 anemia was 25% in patients homozygous for the UGT1A1*28 allele, 10% in patients heterozygous for the UGT1A1*28 allele, and 11% in patients homozygous for the wild-type allele. Closely monitor patients with known reduced UGT1A1 activity for adverse reactions. Withhold or permanently discontinue Trodelvy based on clinical assessment of the onset, duration and severity of the observed adverse reactions in patients with evidence of acute early-onset or unusually severe adverse reactions, which may indicate reduced UGT1A1 function.

Embryo-Fetal Toxicity: Based on its mechanism of action, Trodelvy can cause teratogenicity and/or embryo-fetal lethality when administered to a pregnant woman. Trodelvy contains a genotoxic component, SN-38, and targets rapidly dividing cells. Advise pregnant women and females of reproductive potential of the potential risk to a fetus. Advise females of reproductive potential to use effective contraception during treatment with Trodelvy and for 6 months after the last dose. Advise male patients with female partners of reproductive potential to use effective contraception during treatment with Trodelvy and for 3 months after the last dose.

ADVERSE REACTIONS

In the ASCENT study (IMMU-132-05), the most common adverse reactions (incidence 25%) were fatigue, neutropenia, diarrhea, nausea, alopecia, anemia, constipation, vomiting, abdominal pain, and decreased appetite. The most frequent serious adverse reactions (SAR) (>1%) were neutropenia (7%), diarrhea (4%), and pneumonia (3%). SAR were reported in 27% of patients, and 5% discontinued therapy due to adverse reactions. The most common Grade 3-4 lab abnormalities (incidence 25%) in the ASCENT study were reduced neutrophils, leukocytes, and lymphocytes.

In the TROPHY study (IMMU-132-06), the most common adverse reactions (incidence 25%) were diarrhea, fatigue, neutropenia, nausea, any infection, alopecia, anemia, decreased appetite, constipation, vomiting, abdominal pain, and rash. The most frequent serious adverse reactions (SAR) (5%) were infection (18%), neutropenia (12%, including febrile neutropenia in 10%), acute kidney injury (6%), urinary tract infection (6%), and sepsis or bacteremia (5%). SAR were reported in 44% of patients, and 10% discontinued due to adverse reactions. The most common Grade 3-4 lab abnormalities (incidence 25%) in the TROPHY study were reduced neutrophils, leukocytes, and lymphocytes.

DRUG INTERACTIONS

UGT1A1 Inhibitors: Concomitant administration of Trodelvy with inhibitors of UGT1A1 may increase the incidence of adverse reactions due to potential increase in systemic exposure to SN-38. Avoid administering UGT1A1 inhibitors with Trodelvy.

UGT1A1 Inducers: Exposure to SN-38 may be substantially reduced in patients concomitantly receiving UGT1A1 enzyme inducers. Avoid administering UGT1A1 inducers with Trodelvy.

Please see full Prescribing Information , including BOXED WARNING.

About Gilead Sciences

Gilead Sciences, Inc. is a biopharmaceutical company that has pursued and achieved breakthroughs in medicine for more than three decades, with the goal of creating a healthier world for all people. The company is committed to advancing innovative medicines to prevent and treat life-threatening diseases, including HIV, viral hepatitis and cancer. Gilead operates in more than 35 countries worldwide, with headquarters in Foster City, California.

Forward-Looking Statements

This press release includes forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995 that are subject to risks, uncertainties and other factors, including Gileads ability to initiate, progress or complete clinical trials within currently anticipated timelines or at all, and the possibility of unfavorable results from ongoing or additional clinical trials, including those involving Trodelvy; uncertainties relating to regulatory applications for Trodelvy and related filing and approval timelines, including with respect to the pending sBLA for Trodelvy, and pending or potential applications for the treatment of metastatic TNBC, mUC, HR+/HER2- breast cancer, NSCLC, SCLC, head and neck cancer, and endometrial cancer, in the currently anticipated timelines or at all; Gileads ability to receive regulatory approvals for such indications in a timely manner or at all, and the risk that any such approvals may be subject to significant limitations on use; the possibility that Gilead may make a strategic decision to discontinue development of Trodelvy for such indications and as a result, Trodelvy may never be commercialized for these indications; and any assumptions underlying any of the foregoing. These and other risks, uncertainties and other factors are described in detail in Gileads Quarterly Report on Form 10-Q for the quarter ended June 30, 2022, as filed with the U.S. Securities and Exchange Commission. These risks, uncertainties and other factors could cause actual results to differ materially from those referred to in the forward-looking statements. All statements other than statements of historical fact are statements that could be deemed forward-looking statements. The reader is cautioned that any such forward-looking statements are not guarantees of future performance and involve risks and uncertainties, and is cautioned not to place undue reliance on these forward-looking statements. All forward-looking statements are based on information currently available to Gilead, and Gilead assumes no obligation and disclaims any intent to update any such forward-looking statements.

U.S. Prescribing Information for Trodelvy including BOXED WARNING, is available at http://www.gilead.com.

Trodelvy, Gilead and the Gilead logo are trademarks of Gilead Sciences, Inc., or its related companies.

For more information about Gilead, please visit the companys website at http://www.gilead.com, follow Gilead on Twitter (@GileadSciences) or call Gilead Public Affairs at 1-800-GILEAD-5 or 1-650-574-3000.

i Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Breast Cancer Version 4.2022. National Comprehensive Cancer Network, Inc. 2022. All rights reserved. Accessed August 2022. To view the most recent and complete version of the guideline, go online to NCCN.org. NCCN makes no warranties of any kind whatsoever regarding their content, use or application and disclaims any responsibility for their application or use in any way.

View source version on businesswire.com: https://www.businesswire.com/news/home/20220902005309/en/

Jacquie Ross, Investorsinvestor_relations@gilead.com

Nathan Kaiser, MediaNathan.kaiser@gilead.com

Source: Gilead Sciences, Inc.

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New TROPiCS-02 Data in HR+/HER2- Metastatic Breast Cancer Patients Demonstrates Progression-Free Survival Benefit of Trodelvy Regardless of Their HER2...

Newswise A new paper inFamily Practice,published by Oxford University Press, indicates that overweight patients are more inclined to disagree with their healthcare providers on advice on weight loss and lifestyle.

The World Health Organization estimates obesity nearly tripled between 1975 and 2016. General practitioners have a key role in medical care targeting weight loss and obesity. The quality of information, mutual comprehension, and agreement between doctors and patients affect a patients health status, compliance, satisfaction, and confidence towards his or her doctor. Previous research has shown patients and doctors often have dissimilar attitudes about weight. Patients tend to attribute excess weight to factors that they cannot control (e.g. genetics, hormones), whereas physicians tend to attribute it to behavioral, and thus controllable, factors (e.g. nutrition, physical activity). While many factors contribute to patients weight and health, these differences in perception of weight could degrade doctor-patient interaction.

This study aimed to analyze whether the interaction between patients and their doctors, as measured by their disagreement on information and advice given during the consultation, varied according to the patients body mass index.

Twenty-seven general practitioners and 585 patients from three regions in France participated in the quantitative phase of the project in September and October of 2007 and answered questionnaires collecting both general practitioners and patients perceptions of information and advice given at the end of the consultation.

Researchers here explored differences concerning the patients and doctors declarations about actions, information, and advice during the same visit, the patients health status, and the perceived quality of their relationship. For example, the questions about weight loss were: Did your doctor advise you to lose weight during the consultation? (Answered by patients) and its mirror Did you advise this patient to lose weight during the consultation? (Answered by doctors). Differences in answers given by doctors and their patients were used to define disagreement.

Agreement between patients and doctors was weak (20 to 40 percent agreement) or moderate (40 to 60 percent agreement) for most of the questions, including questions about actions, information, advice, and patients health status discussed during the doctors appointment. Agreement was very weak (less than 20 percent agreement) for questions about the perceived quality of the patient-doctor relationship.

Researchers also found that there was more doctor-patient disagreement the more overweight the patient was. Disagreement was particularly pronounced for advice given by doctors on weight and lifestyle issues. Compared to patients with a normal BMI, overweight patients were more likely to disagree with their doctors regarding advice given on weight loss, advice given on doing more physical activity, and advice about nutrition.

An exploration of the patient's representations and difficulties related to weight could be offered by the general practitioners as a basis for discussion and appropriate support, said the studys lead author, Latitia Gimenez.

The paper, Interaction between patient and general practitioner according to the patient body weight: a cross-sectional survey, is available at:https://academic.oup.com/fampra/article-lookup/doi/10.1093/fampra/cmac086.

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Overweight patients more likely to disagree with their doctors - Newswise

Blood sugar is a vital part of our overall well-being and when there's an imbalance your health is at risk for serious complications like heart disease, kidney disease and stroke. "Simply put, it's your body's main source of energy. You can't survive without it," Dr. Bayo Curry-Winchell, Urgent Care Medical Director and Physician, Carbon Health and Saint Mary's Hospital tells us. The symptoms of high blood sugar can range from subtle to signs you can't ignore and Dr. Curry-Winchell explains what to look out for and why. Read onand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had COVID.

According to the Cleveland Clinic, "Hyperglycemia, or high blood glucose, occurs when there is too much sugar in the blood. This happens when your body has too little insulin (the hormone that transports glucose into the blood), or if your body can't use insulin properly. The condition is most often linked with diabetes."

Dr. Curry-Winchell explains, "A blood sugar level (glucose) greater than 180, one to two hours after eating is considered too high. A number from 100 to 125 is considered too high if you haven't eaten for at least 8 hours."

According to Dr. Curry-Winchell, "Too much sugar in the bloodstream for an extended amount of time will damage your blood vessels responsible for delivering blood to organs such as your heart and kidney."

Dr. Curry-Winchell tells us, "Not everyone will notice signs of high blood sugar. Some of the symptoms can be subtle such as fatigue or an increase in thirst can develop slowly."

"Extra sugar (glucose) does not mean more energy," Dr. Curry-Winchell emphasizes. "The body is not able to use the excess sugar to fuel what your body needs for extra activity."

"The kidneys are unable to filter excess sugar in your blood and respond by attempting to remove it which increases the amount of time/frequency you urinate and puts you at risk for dehydration," says Dr. Curry-Winchell.

Dr. Curry-Winchell explains, "If you are losing weight (involuntarily), although your appetite has increased or stayed the same. This happens because there isn't enough insulin to respond to excess glucose in the body. To supply your body with energy, the body uses stored fat and muscle."

Dr. Curry-Winchell tells us, "Elevated glucose levels can increase the amount of blood vessels that form behind the eye (retina). The extra vessels are harmful and can lead to a risk of becoming blind."6254a4d1642c605c54bf1cab17d50f1e

"Nerve damage also referred to as neuropathy can occur which can signal numbness or tingling in your fingers, toes, hands, and feet," Dr. Curry-Winchell says.

Heather Newgen

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Warning Signs Your Blood Sugar is "Dangerously High" Eat This Not That - Eat This, Not That

Introduction

Over the last decade, social media has increasingly become a resource for patients seeking information about their health. Studies have shown that the majority of patients are now seeking medical information online,1,2 with patients preferring sites such as Facebook and Twitter.3 These sites have grown to serve as free, attractive, and easy to use apps, with up to 85% of patients using social media to search for health information.4 Physicians and others in the medical field have knowingly increased their presence on these platforms to better educate and disseminate factual medical information, understanding that social media may be the first place that patients turn to for advice and information.57

As with many other fields of medicine, social media research in ophthalmology has primarily focused on sites such as Facebook, Twitter, Instagram and LinkedIn.811 However, these are not the only social media sites that patients are turning to for medical advice. With over 52 million and growing daily active users, Reddit is a popular social media site that patients are frequently turning to for specific medical advice because of its discussion forum type format.12 Reddit has proven to be a source of valuable patient information in other medical fields, such as dermatology, psychiatry, and radiology.1315 Despite its growing popularity, Reddit has yet to be fully explored within the field of ophthalmology.

Reddit offers a unique patient perspective because unlike other social media sites, its users are largely anonymous. This allows for them to make candid posts and comments in the various, individual communities that Reddit hosts on its site, known as subreddits. Within these subreddits, users are given the opportunity to upvote or downvote posts and comments to increase the visibility of information that the community deems useful. The vast majority of ophthalmology information can be found in two main ophthalmology subreddits, r/EyeTriage and r/Ophthalmology. A previous cross-sectional study analyzed the content of posts made in the r/EyeTriage subreddit, giving some insight into the information that patients are seeking within this community.16

The goal for this study is to investigate the other ophthalmology subreddit, r/Ophthalmology, to determine what topics in ophthalmology are of greatest interest to Reddit users and whether ophthalmic care is being recommended to those seeking advice. This information will allow us to better understand the perspectives and discussion of the ophthalmology patient population on Reddit.

This cross-sectional study analyzed posts and comments on the Reddit subreddit r/Ophthalmology to understand eye-related patient concerns. r/Ophthalmology was created on June 29, 2011 with the goal of answering general questions about eye topics by the public.17 As stated by the moderator, u/arcadeflyer, specific patient questions should be redirected to a different subreddit r/EyeTriage.18 Additionally, every post on the subreddit includes an automatic comment by an automoderator that explicitly states that questions from patients about their personal health will be removed. Despite this, many posts on the subreddit continue to be patient questions, providing a wealth of data for analysis. The subreddit is frequented by a wide variety of ophthalmic professionals, including ophthalmologists, optometrists, and ophthalmic technicians. Every user that makes a post is required to identify their background within the text and every user on the subreddit has the opportunity to self-identify their profession, which appear next to their username when they make posts or comments. Posts on the subreddit include advice, links, questions, topics for discussion, personal stories, and educational resources.

The public and anonymous posts and comments on r/Ophthalmology were accessed using the Python Reddit API Wrapper. This allowed the Python software to access the data structures within the Reddit interface and extract the necessary data. There was no interaction with individuals to retrieve this data and this data can be accessed without a Reddit account. Given the public and anonymous nature of this data, Institutional Review Board approval was not needed.19 Posts and comments from March 18, 2018 to November 9, 2020 were analyzed and those that were deleted or removed on or prior to November 9, 2020 were not included in the analysis.

After the extraction of posts and comments, the data was pre-processed to prepare it for analysis (Figure 1). The automoderator comment was removed from each post and excluded from analysis. Following this, all text within post and comments was analyzed for unique references to ophthalmic conditions from the American Academy of Ophthalmologys (AAOs) Eye Health A-Z through a keyword search and the frequency of each reference was evaluated. To isolate posts and comments for references to different types of medical care, the data was parsed for posts and comments that included ophth, opth, opto, eye doctor, professional, physician, primary care, appointment, medicine, medication, insurance, prescribe, or prescription, similar to previous methodology analyzing medical Reddit data.13 The resulting posts and comments were then evaluated to determine if they mentioned or recommended either ophthalmic care or other medical care. Medical care is defined as medical intervention, treatment, or professional evaluation.

Figure 1 Data processing and analysis flowchart.

Posts were considered to be recommending any type of medical care if (1) it was mentioned only within the comments of a post and not within the title or body of the post itself and (2) at least 1 commenter encouraged the original poster or another commenter to seek care. Posts were considered to be mentioning any type of medical care if (1) it was mentioned within the comments of a post or (2) within the title and/or body of the post itself. Posts that were found to both recommend and mention care were categorized as recommending care. Comments were considered to be recommending any type of medical care if the commenter encouraged the original poster or another commenter of the same post to seek care. Comments were considered to be mentioning any type of care if it was mentioned within the comment. Again, the presence of both a recommendation and mention was categorized as a recommendation of care. Posts and comments that referenced both ophthalmic care and other forms of medical care were considered references to ophthalmic care. Post and comments that did none of the above were also noted. Ophthalmic care was defined as references specifically to ophthalmologists, optometrists, and eye doctors. Counts of posts and comments in these various categories were then analyzed.

Statistical analysis was done in Python using built-in statistical packages for frequency and count analysis (Python Software Foundation. Python Language Reference, version 2.7. Available at http://www.python.org).

A total of 919 posts with 5345 non-automoderator comments were posted between March 18, 2018 and November 9, 2020. While posts that ask patient-specific questions were said to have been removed by the automoderator, almost half (403/919) of the posts available on the subreddit were found to be referencing patient questions. Furthermore, two-thirds (612/919) of the posts involved conversation surrounding medical care either within the post, subsequent comments, or both. Of the 5345 comments analyzed, 1196 were found to reference any type of medical care.

Amongst the 919 posts analyzed from r/Ophthalmology, the majority either mention (49%) or recommend (9.5%) ophthalmic care (Figure 2, Table 1). 7.7% of the posts mention other medical care and a negligible amount (0.4%) go as far as to recommend other medical care. Amongst the 5345 comments, the vast majority (78%) made no reference to medical care (Figure 3, Table 1). Of the 1196 comments that referenced any type of care, 66% mentioned ophthalmic care and 11% recommended ophthalmic care (Figure 3). Other forms of medical care were mentioned in 22% of comments and recommended in 1% of comments.

Table 1 Number of References to Medical Care in Posts and Comments

Figure 2 References to medical care in posts.

Figure 3 References to medical care in comments.

Searching within posts for ophthalmic conditions found in the AAOs Eye Health A-Z list demonstrated 312 unique instances of these keywords. This analysis revealed that posters were most commonly discussing flashes and floaters (48/312). Glaucoma (24/312), retinal detachments (21/312), and headaches (21/312) were also commonly brought up by posters. Almost half (61/125) of the ophthalmic conditions within the Eye Health A-Z list were absent from post discussions in this subreddit. A chart of commonly discussed ophthalmic conditions in posts of this subreddit can be found in Figure 4.

Figure 4 Top 20 ophthalmic conditions mentioned in posts.

Similar analysis within the comments of posts led to the discovery of 586 unique references to ophthalmic conditions. The most common condition within the comments, cataracts (71/586), differed from that discussed within posts. However, glaucoma (52/586) and flashes and floaters (45/586) were found to be common between the two analyses. A chart of commonly discussed ophthalmic conditions in comments of this subreddit can be found in Figure 5. The conditions discussed within the comments were also found to be slightly more diverse than those in the posts, with only 54 of the 125 conditions absent from conversation. Fifty-eight of the conditions were found to be discussed in both the posts and the comments.

Figure 5 Top 20 ophthalmic conditions mentioned in comments.

The r/Ophthalmology subreddit is a popular social media platform for patients to seek and share information about eye concerns. Analysis of the interactions show that close to two-thirds of posts discuss medical concerns despite these posts being strongly discouraged and deleted from the subreddit. The persistence of posts seeking medical advice on this platform suggests that there is a need for increased patient education on ophthalmic conditions. Patients were found to discuss a variety of topics within this group, with conversation in posts and comments largely being dominated by discussion surrounding retinal detachments, cataracts, and glaucoma. As these are common ophthalmic concerns of patients seen in-office, this study highlights topics that could benefit from increased patient education.

While it is clear that patients are looking for medical information within this subreddit, these results also demonstrate that 75% of comments did not mention or recommend users to seek any type of medical care. Of the comments that referenced care, only a minority went as far as to recommend some type of medical care. These findings highlight the discrepancy between the number of users seeking medical advice on this platform and how often they are told to see a professional for their concerns. This can partially be attributed to the growing amount of self-diagnosis that patients partake in, given the amount of health information accessible to them, and medical advice they receive from others on the internet. Patients may be hopeful to receive medically accurate information about their concerns online, however a previous study suggests that ophthalmologists make up a minority of the self-identified users that frequent the other ophthalmology subreddit, r/EyeTriage.16 This can result in a greater reliance on the advice of other Reddit users, increasing the risk of misinformation. In addition, many of the posts and comments mentioning ophthalmic care do so in the context of users wondering or unsure if they should seek this type of care. A study analyzing the r/EyeTriage subreddit also found that patients posting about ophthalmic concerns demonstrated anxiety and worry with patients most commonly seeking diagnoses, highlighting the potential vulnerable state that patients may be in when seeking ophthalmic care information online.16 This suggests that there is room for improvement in educating patients about circumstances in which they should seek ophthalmic care. Ophthalmologists can play a key role in improving patient education about a variety of sight-threatening conditions by understanding what ophthalmic information patients are seeking online as a result of this study. This type of education will improve patient outcomes and better educate those who may be giving advice to others online.

When considering what patients are discussing within posts, the increased frequency of flashes and floaters appearing in conversation suggests that patients are turning to this platform to ask others what they should do when experiencing these symptoms. While one of the most common reasons for acute onset flashes and floaters is a posterior vitreous detachment, patients should be aware that they need to be appropriately evaluated in order to rule out a possible retinal detachment.20,21 Patient education strategies aimed to decrease delayed presentation of certain ophthalmic concerns may be useful tactics for ophthalmologists to use in office. One particular acronym, FLASH, can help patients remember the following symptoms for vision-threatening eye emergencies: flashes and floaters, loss of vision, aching pain, second image, help.22 This education can also help address the other commonly brought up topics in posts, glaucoma and headaches. Patients experiencing acute angle closure glaucoma may often presents with headaches and blurry vision,23 both of which are encompassed by the acronym. This can help patients with these concerns know to seek immediate medical attention as opposed to turning to the advice of those on the internet. It is important to note that patients are not exclusively bringing up acute medical concerns in posts. Posts are also made by those seeking more information about chronic conditions they may have such as glaucoma, astigmatism, dry eye, and uveitis. These results can help guide further patient education both on social media and in the office.

Within comments, users of the r/Ophthalmology subreddit are found to be commonly discussing similar topics to those found in posts. This suggests that the comments may be frequently used for other users to give advice on topics brought up in posts. As there is no qualification necessary for a layperson to give medical advice online, it is important that eye professionals are acutely aware of the discussions taking place. The knowledge of the results of this study can help inform ophthalmologists and optometrists on what education they should focus on disseminating. The benefit of this is twofold: (1) Patients are inherently better educated about eye conditions and can more appropriately assess when to seek medical care and (2) if they are giving advice on the internet, they will be less likely to spread misinformation to others. Methods of patient education can be divided into social media resources and non-social media resources. Outside of social media, ophthalmologists can make use of the variety of patient education resources available through the AAO, including pamphlets, videos, and diagrams.24 Many ophthalmologists also have personalized patient education information sheets that can be included in after-visit summaries. These resources are additionally helpful from a patient perspective because they can include links to reputable resources that patients can rely on to further their own education on particular topics. These types of resources tend to be more static, whereas the wide spectrum of social media platforms can give ophthalmologists creative freedom to decide how to disseminate patient education, including text, photo, and video-based material. While engaging in social media can be time-intensive, it is important for physicians to recognize that up to 80% of their patient population is seeking information about their health online.25 Within the field of ophthalmology, social media has been gaining more momentum and the AAO provides guidelines that may help ophthalmologists use social media to market their practices.26 Extending use of social media to educate patients can help ophthalmologists reach those who may otherwise lack other resources to access health information while also helping to build their practice.25

Reddit as a social media platform for health information offers unique advantages and perspectives. Unlike other social media sites, Reddit allows for patients to easily create accounts that give them anonymity. This has been found to facilitate more supportive and instrumental conversation about medical conditions, especially in situations where stigma may be involved.27 The platform creates a space in which patients do not feel like they are broadcasting their concerns or revealing too much personal information to those that they know, as they would on sites such as Twitter and Facebook.2830 The r/Ophthalmology subreddit may possibly attract more ophthalmologist subscribers than that of r/EyeTriage given that the subreddit more adamantly discourages patient-specific questions. Physicians are well aware of the professional consequences of giving specific medical information on the internet.31 The anonymity provided by Reddit and the rules of the r/Ophthalmology subreddit gives ophthalmologists the freedom to interact within the group without feeling obligated to respond to patient questions, making it more likely that they have a greater presence there than in r/EyeTriage. This makes the subreddit an accessible platform for ophthalmologists to disseminate education materials for patients while getting input from other users of various backgrounds, already found to be effective in other fields of medicine.32,33 This type of engagement with patients and others can help increase overall ophthalmic knowledge in the general population.

This study is not free of limitations, both with Reddit itself as a data source and the study methodology. As this study relies on data directly from the r/Ophthalmology subreddit, it is important to consider that this forum is also frequented by others with an interest in ophthalmology, such as medical students, residents, and other eye professionals. With 56% percent of available posts discussing topics outside of medical advice, conversations would be expected to fall outside of mentioning or recommending any type of medical care, serving as a confounder when attempting to determine whether patients are appropriately being recommended to seek care. Additionally, the subreddit rules make it likely that more posts were made discussing patient-specific questions but were deleted prior to data extraction from the site. Further research into the posts and comments in this subreddit since the time of data extraction may prove valuable in better understanding the conversations about ophthalmology on this social media platform. In evaluating the conditions that patients are discussing on r/Ophthalmology, it is possible that conditions outside of those included in the AAOs Eye Health A-Z list were discussed and not captured in these results. A more exhaustive list of ophthalmic symptoms and diseases may yield greater information about topics of conversation. The pre-processing methodology used to identify posts and comments with references to medical care has been previously described, but may have unintentionally excluded a small number of conversations related to patient questions. Future studies analyzing Reddit data may benefit from a more robust natural language processing approach to thoroughly process this complex data source.

In summary, Reddit data, specifically the r/Ophthalmology subreddit, offers unique insight into the conversations that patients are having about their eye health on social media. Patients were found to ask specific questions about their health on the platform, leading to increased self-diagnosis and spread of medical advice from other Reddit users. Within these patient-specific conversations, ophthalmic care was often mentioned, but there is room for increased patient education in this space to better inform patients about both acute and chronic ophthalmic conditions. Ophthalmologists, and others in the vision community, can use the results of this study to tailor patient education towards commonly discussed ophthalmic conditions found in the r/Ophthalmology subreddit. This approach can help improve patient safety while decreasing the spread of misinformation.

There is no funding to report. The abstract of this paper was presented at the Association for Research in Vision and Ophthalmology 2021 as a poster presentation with interim findings. The posters abstract was published in Abstract Issue 2021 in Investigative Ophthalmology & Visual Science: https://iovs.arvojournals.org/article.aspx?articleid=2773677.

The authors report no conflicts of interest in this work.

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2. Hesse BW, Nelson DE, Kreps GL, et al. Trust and sources of health information: the impact of the internet and its implications for health care providers: findings from the first health information national trends survey. Arch Intern Med. 2005;165(22):26182624. doi:10.1001/archinte.165.22.2618

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4. Marar SD, Al-Madaney MM, Almousawi FH. Health information on social media. Saudi Med J. 2019;40(12):12941298. doi:10.15537/smj.2019.12.24682

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8. Micieli JA, Tsui E. Ophthalmology on social networking sites: an observational study of Facebook, Twitter, and LinkedIn. Clin Ophthalmol. 2015;9:285290. doi:10.2147/OPTH.S79032

9. Clarke C, Smith E, Khan M, Al-Mohtaseb Z. Social media and ophthalmology: perspectives of patients and ophthalmologists. J Med Syst. 2018;42(12):258. doi:10.1007/s10916-018-1079-2

10. Micieli R, Micieli JA. Twitter as a tool for ophthalmologists. Can J Ophthalmol. 2012;47(5):410413. doi:10.1016/j.jcjo.2012.05.005

11. McGregor F, Somner JEA, Bourne RR, Munn-Giddings C, Shah P, Cross V. Social media use by patients with glaucoma: what can we learn? Ophthalmic Physiol Opt. 2014;34(1):4652. doi:10.1111/opo.12093

12. Patel S. Reddit claims 52 million daily users, revealing a key figure for social-media platforms. Wall Street Journal; December 1, 2020. Available from: https://www.wsj.com/articles/reddit-claims-52-million-daily-users-revealing-a-key-figure-for-social-media-platforms-11606822200. Accessed April 4, 2021.

13. Parks R, Newsom EC, Park JH, Lawrence N. Skincare addiction on reddit: dermatology enthusiasts talk skin. Dermatol Surg. 2020;46(10):13721374. doi:10.1097/DSS.0000000000002060

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15. Munawar K, Prabhu V. Radiology on Reddit: a content analysis and opportunity for radiologist engagement and education. Curr Probl Diagn Radiol. 2021;50(3):362368. doi:10.1067/j.cpradiol.2021.02.001

16. Mahjoub H, Prabhu AV, Sikder S. What are ophthalmology patients asking online? An analysis of the eye triage subreddit. Clin Ophthalmol. 2020;14:35753582. doi:10.2147/OPTH.S279607

17. r/Ophthalmology. Reddit. Available from: https://www.reddit.com/r/Ophthalmology. Accessed March 28, 2021.

18. u/arcadeflyer. Sticky: new Subreddit, r/ eyetriage, for patient questions. r/Ophthalmology; January 27, 2019. Available from: http://www.reddit.com/r/Ophthalmology/comments/ak7i27/sticky_new_subreddit_reyetriage_for_patient/. Accessed March 28, 2021.

19. Guidance on research using social networking sites. Available from: https://research.cofc.edu/administration/documents/policies-documents/IRB_SNSguidance.pdf. Accessed July 8, 2022.

20. Hollands H, Johnson D, Brox AC, Almeida D, Simel DL, Sharma S. Acute-onset floaters and flashes: Is this patient at risk for retinal detachment? JAMA. 2009;302(20):22432249. doi:10.1001/jama.2009.1714

21. Sharma P, Sridhar J, Mehta S. Flashes and Floaters. Prim Care. 2015;42(3):425435. doi:10.1016/j.pop.2015.05.011

22. Jairath N, Commiskey P, Kaplan A, Paulus YM. FLASH: a novel tool to identify vision-threating eye emergencies. Int J Ophthalmic Res. 2020;6(1):336343.

23. Khazaeni B, Khazaeni L. Acute closed angle glaucoma. In: StatPearls. StatPearls Publishing; 2022. Available from:. http://www.ncbi.nlm.nih.gov/books/NBK430857/. Accessed March 13, 2022.

24. Patient education. Available from: https://store.aao.org/patient-education.html. Accessed August 7, 2022.

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26. Use social media to market your practice. American Academy of Ophthalmology; January 1, 2016. Available from: https://www.aao.org/eyenet/article/use-social-media-to-market-your-practice. Accessed August 7, 2022.

27. Choudhury MD, De S. Mental health discourse on reddit: self-disclosure, social support, and anonymity. In: Proceedings of the 8th International Conference on Weblogs and Social Media, ICWSM 2014. Michigan, USA; January 1, 2014:7180.

28. Choudhury M, Gamon M, Counts S, Horvitz E. Predicting depression via social media. 2013.

29. Paul MJ, Dredze M. You are what you tweet: analyzing Twitter for public health. In: Proceedings of the 5th International AAAI Conference on Weblogs and Social Media. Catalonia, Spain; 2011: 8.

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31. Farnan JM, Snyder Sulmasy L, Worster BK, Chaudhry HJ, Rhyne JA, Arora VM. Online medical professionalism: patient and public relationships: policy statement from the American College of Physicians and the federation of state medical boards. Ann Intern Med. 2013;158(8):620627. doi:10.7326/0003-4819-158-8-201304160-00100

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33. Latack KR, Yuen F, Wang C, Nguyen BT. Online community queries on hormonal male contraception: an analysis of the Reddit Ask Me Anything experience. Contraception. 2021;104(2):159164. doi:10.1016/j.contraception.2021.02.009

Read more from the original source:
Ophthalmology Inquiries on Reddit: What Should Physicians Know? | OPTH - Dove Medical Press

Starting back in high school in 2015, Annie Uyeki was always anxious when she had to leave a class. I wondered, What does my teacher think? she says. Anywhere from two to three times in an 82-minute class period, Uyeki had to step out. Her body demanded it.

Now a lacrosse player at Vassar College, Uyeki was used to infrequent occurrences of excruciating pain that came with irregular and unbearable periods. She started taking birth control pills to help regulate themshe just wanted to feel comfortable in her own body, function as an athlete and compete at the highest level without pain.

But, as she tried to find a birth control method that would prevent pregnancy and help her body cope with relentless cramps and pain, the pill only made her life worse. Maybe this type of pill was a bad fit, she thought. Uyeki switched from one type to another, but her pain didnt change. Her mental health suffered.

Multiple doctors sent a message to Uyeki: [It] might just be your body. You might just be uncomfortable in your body.

Frustrated, she refused to believe it was normal, that it was fine to not get through her day because she was in so much pain.

I feel like birth control almost changed my personality a little bit. I was just so on edge all the time, so irritable. When I told my doctor about this, there seemed to be no real solution, Uyeki says.

Somehow, sometime, it became normal for the insufferable pain, negative side effects and an altered mental state to seamlessly find its way into the athlete lifestyle.

For many collegiate athletes, the birth control pill has brought more harm than good, negatively impacting their bodies and minds. On June 24, the Supreme Court added an additional complicating factor to athletes relationship with the pill. The reversal of Roe v. Wade, the 1973 landmark decision that protected abortion rights in the United States, strips reproductive control further, which naturally may increase the pills popularity. A lack of in-state abortion access may be an athletes sole reason for going on the pill or another form of hormonal birth control (even as advocates say the restrictions on abortions may also lead to restrictions on contraceptives).

With increasing restrictions around reproductive health care, athletes are calling for more conversation and research about the pills health hindrances, some of which have existed long before the overturn of Roe.

Dorothy DiMascio-Donohue, a student at Tufts and member of the nationally ranked womens ultimate Frisbee team, laughed on the phone when explaining how vocal shes been to her teammates about life on the pill.

It feels like a wash of gray has been painted over everything you see and feel, she says. [It is] a little less passionate, a little less colorful, a little worse to endure. And the worst part is that we were told that this is normal. Its almost indescribable how it feels to be on these hormones, but it is noticeable and important. Especially as an athlete, I want to choose a form of birth control that wont make my cramps worse, impeding my performance. I might even want to choose one that will make me feel better.

For DiMascio-Donohue, the relationship between her mental health and athletic performance is the biggest factor. In pursuit of physical control, she lost mental control, with the pill worsening her anxiety and depression. To manage period cramps and take control over pregnancy prevention with a form of birth control she has agency over, she sacrificed her mental and physical wellbeingwhat her athletic performance depends on.

Even as so many athletes and non-athletes alike do reap great benefits from the pill, the side effects are a common conundrum.

Lizzie, who asked Sports Illustrated to identify her by first name only, was aware from a young age that her body was on display. It started with ice skating, before she hit her teen years. She always compared her body to her older sisters; she wanted to be thinner. That thought pattern led to restrictive eating habits, low nutrition and low food consumption, which began to impact her menstrual cycle. Her mother found out that her period stopped and immediately brought her to the doctor. Lizzie left with a birth control prescription to regulate her hormones. She was 15, and there was no conversation about side effects. Months later, she was crushed by anxiety.

I had never experienced anything like this and I never correlated it to birth control, but I do know I started this one thing, then this happened, Lizze says.

Birth controland the side effects that came with itremained part of Lizzies daily timeline. As a Division I college rower, the mental health downfall conflicted with the lifestyle of a collegiate athlete. She gained more weight during her monthly cycle, which added extra stress to regular team weigh-ins. Every mood swing, every period of anxiety or depression, was brought to the next level while rowing in college. Her GPA suffered even when her school-focused anxiety heightened and her depression was at a peak, torpedoing her athletic performance.

A 2018 report shows that the pill is most popular with patients between 20 and 29the prime age for college athletes. When Dr. Alysia Robichau, a sports medicine physician in Conroe, Texas, prescribes the pill, she looks at five criteria: weight, period flow/length, acne, mood swings and reason for going on the pill. Robichau also considers a family history of blood clots, one of the pills more severe possible side effects. There are roughly 150 to 200 types, brands and styles of birth control pills. They each have different combinations of hormones that work for different reasons, and different pills may cause mood or mental health issues. They normally contain estrogen and progesterone, two hormones key in reproductive development that help regulate menstrual cycles. Progesterone-only pills are more commonly given to people who are breastfeeding.

For Sophia Worth, the tiny pill she takes at 10 every night helps manage the onset of endometriosis, which plagues her family lineage. Endometriosis, simply put, is a painful disorder that involves the tissue that lines ones uterus. Symptoms include, but are not limited to, extreme pain in the back, stomach, irregular menstrual cycles and heavy bleeding.

Worth was just 15 when she started taking the pill because symptoms were far too severe to ignore. A rising junior at Missouri as the goalie for the womens soccer team, she found success with the pill, but it has to be taken at the same time every day to work properly. The strict schedule it requires doesnt mix well with the demanding life of a D-I athlete. Road games are a recipe for prescription mishaps; time-zone changes almost ensure a missed dosageeven just one missed pill can cause a hormonal imbalance.

In terms of your athletic performance, when your hormones are out of whack, your mood is messed up, your body feels wack, it messes with your sleep and all of those things are aspects that are always hammered home to us as athletes, Worth says.

The pill helps to avoid physical pain that would trouble her athletic lifestyle, but the solution adds a hormonal imbalance and her body chemistry is nonetheless altered. Weight gain is the most expected side effect, as Robichau explained that doctors estimate users typically gain two to eight pounds on the pill. Uyeki gained roughly 20 pounds. Robichau herself was an elite level gymnast at LSU and went on birth control pills in college, but with strict instructions to not gain weight.

Uyeki remembers when practices would end with a lecture about the importance of staying hydrated or a reminder to maximize sleep. One common issue among the athletes standing around her in the huddle wasnt insomnia or dehydration. It was hormone-related, but that wasnt ever valued; the topic was flat-out ignored.

For decades, information about birth control in relation to athletes was sparse. With women already more likely to tear their ACLs than men, research recently took off to study how oral contraceptive pills factor in. Robichau says most research is not yet conclusive, but a 2021 study from Penn State College of Medicine found that a large percentage of women who sustained ACL tears were taking an estrogen and progesterone birth control pill at the time of injury.

In 2009, researchers from Texas A&M found that oral birth control use impaired muscle gains in young women and was associated with lower hormone levels. The conclusion was followed with a clear statement: There still needs to be more research about the relationship between muscle loss and birth control. Especially in a Roe-overturned world.

In 1988, IUDs were reintroduced to the U.S. market after approval from the FDA. But doctors had always been hesitant to insert them in people who had not given birth previously. The procedural aspect of IUD insertion sparked uncertainty, especially for athletes who could spoil their careers with one mishap.

With IUDs given to only a limited group as a birth control option, the pills popularity increased.

In college athletic communities, it wasnt uncommon for a student to be instructed by a coach or program to go on the pill. High-intensity training meant athletes were at risk of losing their regular period if they didnt get enough fuel to support their training. Red S or Relative Energy Deficiency in Sport, the formal name for when athletes suffer from low bone density, energy deficiency or potentially disordered eating, scared coaches.

In the early 2000s, the vast majority of college programs were run by men, which meant less talk of periods and hormones. To combat Red S, and avoid potential conversations of periods or pregnancy, coaches encouraged their athletes to take the pill. If they werent eating enough, if bones weakened, at least they got their period.

Instead of individualized methods that fit ones body, blanket approaches put the pill in many athletes daily routine, with no warning of side effects or the realization that the pill is not the solution for everyone, or that there are other options.

Victoria Jackson, a pro runner with endorsements from Nike who was a Pac-10 champion at Arizona State, was on the pill like many other endurance athletes in the early 2000s. She didnt go off the pill until she was ready to start a family.

When I went off the pill, it was like the clouds parted, Jackson says. For the last decade and half, I was a little bit sad all the time. I was in a low-level depressive state. I am not an expert but from my personal experience, I realized [the pill] had an effect on my mental health, and that had never been part of the conversation.

In the mid-to-late 2000s, Jackson says research-based coaches began reversing the standard that those before them set and encouraged athletes to go off the pill. A decision with good intentions was made by the wrong people.

You would have coaches involved in the reproductive health and womens health decisions made by athletes, sometimes not in consultation with medical professionals, making those athletes vulnerable, Jackson says.

Jackson, a professor and historian at ASU, is advocating for clear conversations about life off birth control since many athletes have stopped taking the pill.

Other athletes who spoke to SI had similar beneficial results. Lizzie switched off the pill junior year of college to an IUD and says her mental health benefited greatly, as did her athletic performance. DiMascio-Donohue is in a similar place.

I was miserable for so long, she says, now off birth control. This gray filter on life is now removed.

The landscape of college athletes will be different heading into the fallespecially in states with abortion bans. In Missouri, where Worth plays, an added anxiety now lingers.

Thinking about the intimate and sexual details of my life having to be disclosed to my coaching staff in the case that something happened and I were to get pregnant, all these other questions arise, what if they are allowed to say, No, you cant go to another state and do this? she says.

The decision to prevent people from receiving in-state procedures may be the one reason an athlete needs to go on the pill, despite its health risks.

Data gathered by The Washington Post revealed that many elite womens college sports programs are also disproportionately concentrated in states with abortion bans and expected bans or where the future of abortion rights is uncertain.

Given the universal uncertainty but life altering repercussions, Jackson encourages college coaches to develop a plan. Future recruits and parents will have questions, especially in states that ban abortions: where to go, what to do. But medically, the plan should be advised by outside professionals.

Team meetings can no longer focus just on nutrition, and practices cant end with only a reminder to sleep well that night like Uyeki and other athletes have dealt with their entire life. The bodily autonomy athletes once had is now restricted. The pill may be an athletes best bet in a post-Roe landscapeand, students and advocates say, thats far from ideal.

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The Trouble With the Pill - Sports Illustrated

For young students, seeking reproductive health resources available in the area may be difficult to find.

Fosnight Center embraces the uniqueness of each individual in an effort to ensure all feel safe and welcome regardless of intersectional identities, said Casey Duncan, the director of administrative services for the Fosnight Center for sexual health in Asheville.

The director said the Fosnight Center provides inclusive healthcare for all bodies. The center covers gender affirming care, gynecology and urology services, sexual and integrative medicine and physical therapy.

At the Fosnight Center, we recognize the pieces and put them together to create an individualized treatment plan through a multidisciplinary team approach, Duncan said. You will have the opportunity to be evaluated by our medical providers, pelvic health physical therapist and sex therapist in order to look at the whole picture of your health concern.

The director said the sexual health center provides gender inclusive contraceptive care, gender affirming hormone therapies, STI testing and preventative care.

According to the CDC, before the overturning of Roe 65.3% of people born with a uterus were using contraceptives.

We pride ourselves on creating a safe space for all our patients and clients. Duncan said. We believe everyone deserves to love their body.

The Fosnight director said the center is passionate about reproductive freedom and bodily autonomy for all.

We are committed to cultivating an inclusive environment that benefits all our providers, staff, clients, patients and the community, Duncan said.

Duncan said the sexual health center accepts most commerical insurances and has self-pay discounts.

According to Planned Parenthood, after the overturn of Roe v. Wade on June 24, many Planned Parenthood centers were forced to close leavingmany low income young adults struggling to find affordable testing and sexual health clinics.

The staff understand the unique needs and challenges of being a college student, said Jay Cutspec, the director of Health and Counseling at UNC Asheville.

Cutspec said students receive basic reproductive care and services at UNCA comparable to a family physicians office.

We adapt our services to meet the unique needs of college students, Cutspec said. We have a diverse staff from a variety of backgrounds and experiences.

The health and counseling director said they advise students to make the Health and Counseling Center their first step. If they cannot provide specific services or have unmet needs, students will be referred to the most appropriate community provider.

The phone number for the Health and Counseling Center is (828)-251-6520.

We also understand that for many students, this may be the first time that they have to manage their own healthcare, Cutspec said. We try to educate them on how to manage the healthcare system.

Cutspec said the only charge for a visit to the Health and Counseling Center is for possible medication prescription or lab tests received during the visit.

The Menstrual Equity Club on UNCAs campus takes these matters into their own hands providing safer sex supplies, menstrual products and community health resources.

We have had the pleasure of partnering with organizations such as the Western North Carolina Aids Project and Planned Parenthood, said Samantha Mazze, a UNCA student studying psychology and co-president of the equity club.

Through these collaborations we have been able to provide the campus population with free HIV testing and guest speaker community health educators, Mazze said.

Mazze said the club members pride themselves on providing safe spaces for students to discuss reproductive justice, campus community needs and concerns.

The UNCA student said this was their third year being a part of the Menstrual Equity club.

The co-president said in the past year one of the biggest projects the club worked on was providing free menstrual products in all bathrooms on campus.

One of our goals for this next year is to make sure all students on campus have access to these essential supplies regardless of the bathroom they use, said Mazze.

Mazze said another project the club organizes is the packing party, a Halloween goodie bag filled with menstrual products, candies, stickers and more for students. The co-president said with events like packing parties the club donates supplies back to the community.

The UNCA student said the presence of organizations like the menstrual equity club are crucial because voices are not being heard.

We continue to see people of color and the LGBTQ+ community be consistently overlooked by our healthcare and justice systems, said Mazze.

Mazze said after their graduation they want to continue their efforts in reproductive health, and become a sex therapist.

The co-president said students wishing to get involved can follow the clubs instagram page @uncaforme or join the email list [emailprotected].

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UNCA and Asheville clinics priortize inclusive healthcare The Blue Banner - The Blue Banner

A dramatic presentation at the 2022 American Society of Clinical Oncology Annual Meeting changed treatment standards seemingly overnight for women with previously treated metastatic HER2-low breast cancer. However, fundamental questions remain.

A dramatic presentation at the 2022 American Society of Clinical Oncology (ASCO) Annual Meeting changed treatment standards seemingly overnight for women with previously treated metastatic HER2-low breast cancer. However, fundamental questions remain. What is HER2-low breast cancer? Are low levels of HER2 meaningful drivers of cancer progression? How can oncologists predict which patients will benefit from treatment with the antibody-drug conjugate (ADC) fam-trastuzumab deruxtecan-nxki (Enhertu)?

Investigators of the phase 3 DESTINY-Breast04 trial (NCT03734029) enrolled previously treated patients with HER2-low metastatic breast cancer, which was defined for the trial as a score of 1+ on immunohistochemical (IHC) analysis or an IHC score of 2+ and negative results on in situ hybridization (ISH). Among the 557 patients who were randomly assigned 2:1 to trastuzumab deruxtecan or physicians choice of single-agent chemotherapy, the median progression-free survival (PFS) was 9.9 months in the trastuzumab deruxtecan group vs 5.1 months in the physicians choice group (HR, 0.50; 95% CI, 0.40-0.63; P < .0001). Overall survival (OS) was 23.4 months with trastuzumab deruxtecan vs 16.8 months with physicians choice (HR, 0.64; 95% CI, 0.40-0.86; P = .003).1

In addition to extending PFS and OS, trastuzumab deruxtecan was also better tolerated than the chemotherapies that physicians selected. Adverse events of grade 3 or higher were observed in 52.6% of the patients who received trastuzumab deruxtecan and 67.4% of those who received physicians choice. Adjudicated, drug-related interstitial lung disease or pneumonitis occurred in 12.1% of the patients who received trastuzumab deruxtecan, and 0.8% of patients died.

News of the results elicited a rare standing ovation at the ASCO meeting, and the FDA subsequently approved the agent for the treatment of patients with HER2-low metastatic disease in August 2022 (Table).2

Establishing definitive parameters for HER2-low disease is still a task set before oncologists and pathologists. Approximately 60% of breast cancers qualify as HER2 low based on the definition in DESTINY-Breast04.3 And although targeted drugs have transformed outcomes for the 15% to 20% of patients with breast cancer with significantly elevated HER2 expression, this was the first time that a drug targeted at HER2 proved beneficial to patients who met this definition of HER2-low breast cancer.4

HER2 is a membrane tyrosine kinase expressed at low levels by many healthy cells that is dramatically overexpressed (40- to 100-fold) by a minority of cancers that can have several million HER2 receptors per cell.5

Existing IHC assays were optimized to distinguish overexpression from normal expression. They have an adequate dynamic range for that purpose but [are] suboptimal to distinguish different HER2 groups among tumors with lower levels of expression. Almost all breast cancers do express some HER2, and an IHC result of 0 is often the result of an artifact caused by formalin fixation rather than truly representing no HER2 protein present. For that reason, current IHC assays are unfit for the purpose of creating a new category of HER2 low, said Antonio C. Wolff, MD, a professor of oncology at Johns Hopkins University and director of breast cancer trials in the Womens Malignancies Program at Johns Hopkins Kimmel Comprehensive Cancer Center in Baltimore, Maryland. Therefore, rather than creating a new category, for now it is better to simply describe the eligibility criteria used for the study to identify patients who could be candidates for this drug.

Testing HER2 expression levels has long been a challenge. In 2007, 9 years after the initial approval of trastuzumab (Herceptin), an expert panel convened by ASCO and the College of American Pathologists (CAP) concluded that both IHC and ISH returned inaccurate results in approximately 20% of cases. They recommended testing standards for HER2 overexpression that, among other improvements, sometimes combined the 2 methods to reduce the error rate.6 Those first ASCO/CAP guidelines were updated in 2013 and again in 2018, but even the most recent guidelines make no mention of HER2-low cancers. They also give no advice for separating cancers with small amounts of HER2 expression from cancers that do not express HER2 at all because, as the authors note, data from [the NSABP-B-47; NCT01275677 trial] confirmed the lack of benefit from adjuvant trastuzumab for patients whose tumors lack gene amplification and are IHC 1+ or 2+. Consequently, HER2 gene amplification assessed by ISH or protein overexpression assessed by IHC remains the primary predictor of responsiveness to HER2-targeted therapies in breast cancer.7

Amplification or overexpression of HER2 has long been known to drive tumor growth and aggressiveness. Before the development of targeted therapies, HER2-positive status was associated with shorter survival.8 The question now, which has been investigated in a pair of recent studies, is whether having low levels of HER2 expression produce different cancer progression and outcomes than having no HER2 at all.

In the first of those studies, findings from which were presented at the 2022 ASCO meeting, investigators mined the National Cancer Database for outcome data on patients with metastatic breast cancer whose cancers scored 0 (HER2 0) or 1+/2+ (HER2 low) on IHC testing. There were no differences between the 6865 HER2-0 patients and the 17,771 HER2-low patients in age, race, year treated, location, income, insurance status, Charlson Deyo comorbidity index score, laterality, T stage, N stage, or use of systemic therapy. There was, however, a difference in hormone receptor status; HER2-low tumors were half as likely to have concomitant hormone receptornegative status. Among hormone receptornegative patients, the 3-year survival rate was 33.8% for HER2-low and 32.2% for HER2-0 patients. Among hormone receptorpositive patients, the survival rate was 60.9% in HER2-low and 55.6% in HER2-0 patients. HER2-low status was associated with longer survival on multivariable regression analysis (HR, 0.91; 95% CI, 0.87-0.95), even with propensity score matching (HR, 0.92; 95% CI, 0.89-0.96). In a subset analysis isolated to hormone receptorpositive cases, HER2 low remained correlated with improved survival (HR, 0.93; 95% CI, 0.89-0.98) with propensity-matched multivariable regression analysis.9

In the second study, whose results were published inJAMA Oncology, investigators compared outcomes of 5235 consecutive patients with nonmetastatic HER2-low or HER2-0 breast cancer who underwent surgery between January 2016 and March 2021 at Dana-Farber Brigham Cancer Center in Boston, Massachusetts. Although the patient populations were different (metastatic vs nonmetastatic cancers), the definitions of HER2 low (IHC score of 1+ or 2+) and HER2 0 (IHC score of 0) were the same as in the previously mentioned study. Also, in that study, hormone receptor expression was significantly more common among HER2-low tumors than HER2-0 tumors (90.6% vs 81.8%;P < .001).

Investigators also found a correlation between the expression of estrogen receptors (ERs) and HER2.Patients with HER2-0 tumors experienced higher pathologic complete response rate (pCR) than patients with HER2-low tumors after neoadjuvant chemotherapy (26.8% vs 16.6%;P = .002). However, after controlling for hormone receptor and ER status, there were no significant differences in pCR, disease-free survival, distant diseasefree survival, or OS between patients with HER2-low and HER2-0 breast cancer.10

We wanted to look at the prognosisfor patients withHER2-lowbreast cancercompared [with]HER2-0breast cancer. We explored data from our institutions largeprospectivedatabase anddiscovered that theydont have a different prognosis, if you correct for the expression of the estrogen receptor, said senior study author Sara M. Tolaney, MD, MPH, chief of the Division of Breast Oncology at Susan F. Smith Center for Womens Cancers at Dana-Farber Cancer Institute. In our mind, if the prognosis of these cancers is not different, it suggests that theyre really not biologically different cancersand low HER2 expressionis likely notan oncogenic driver for that cancer.

Tolaney stressed that while this finding provides new information about tumor behavior, it should do nothing to dampen excitement about trastuzumab deruxtecans apparent effect on HER2-low tumors. Theres no need for an ADC to target an oncogenic driver. If it can reliably bind to the tumor, it can deliver the chemotherapy exactly where it needs to, she said. It is very critical to understand if tumors are HER2-lowpositive, not because its associated with a different prognosis, but rather because its allowing you to utilize a very novel therapythat can dramatically impact patients outcomes.

Of course, given that both studies used IHC to separate patients whose tumors were HER2 low from those whose tumors were HER2 0, some tumors were categorized incorrectly in both studies. Indeed, in data from a new study from Yale Cancer Center in New Haven, Connecticut, investigators concluded that current IHC tests struggle severely to differentiate between IHC 1+ and IHC 0 tumors.

In this study, investigators collected data from a survey conducted by CAP and a Yale-based study of concordance among 18 pathologists reading 170 breast cancer biopsies. The CAP analysis showed that 19% of the cases read by 1400 laboratories generated results with less than 70% agreement between a HER2 score of 0 vs 1+. In the second part of the study, in which 18 pathologists read the same slides from a selected set of breast cancer biopsies using the 4-point scale, there was only 26% agreement among pathologists on scores of 0 and 1+.

Investigators said the disagreement was due to the poor quality of the current IHC test in this critical range that will likely determine which women are eligible for trastuzumab deruxtecan.11

Although the test returns 4 different scores0, 1, 2, or 3it is not actually designed to differentiate 0s from 1s. Its designed to give you a yes/no answer about whether a tumor massively overexpresses HER2 in a way that would make trastuzumab a good treatment, said senior study author David Rimm, MD, PhD. Rimm is the Anthony N. Brady Professor of Pathology and a professor of medicine at Yale University School of Medicine. He also serves as director of Yale Pathology Tissue Services, director of the Yale Cancer Center Tissue Microarray Facility, and director of the Physician Scientist Training Program in Pathology Research. Weve always known this, but the results of this study indicate that the biggest factor in determining whether a result is interpreted as a 0 or a 1+ is chance, and that will likely lead to the mismanagement of many patients in terms of who gets treated with trastuzumab deruxtecan.

Is it possible to develop a test that more accurately distinguishes tumors with low HER2 expression from those with no HER2 expression (Figure12)? Weve already developed one, Rimm said, adding that diagnostic companies are also developing higher sensitivity tests because of the large unmet need. Of course, youd need to validate any test thats developed, but that can be done in a reasonable time frame.

The IHC tests inability to differentiate between low and nonexistent levels of HER2 expression also creates a potential problem with the DESTINY-Breast04 results. To be eligible for the study, patients needed to have a tumor that tested HER2 IHC 1+ or IHC 2+ without gene amplification. Patients with IHC 0 were not eligible for the study, and it is quite plausible that this antibody-drug conjugate would be active in them too, but this must be confirmed, Wolff said.Some evidence exists about the effect of trastuzumab deruxtecan in patients whose tumors receive IHC scores of 0 from the phase 2 DAISY trial (NCT04132960), which reported results during the European Society for Medical Oncology Breast Cancer Congress 2022 and the 2021 San Antonio Breast Cancer Symposium.

Investigators in DAISY assigned 186 patients with metastatic breast cancer to 1 of 3 cohorts based on HER2 IHC expression: IHC 3+ or IHC 2+/ISH+ (cohort 1; n = 68); IHC 2+/ISH- or IHC 1+ (cohort 2; n = 72); and IHC 0+ (cohort 3; n = 37). All patients received 5.4 mg/kg trastuzumab deruxtecan intravenously on day 1 of 21-day cycles.

Best objective response (BOR) favored cohort 1 (71.0%; 95% CI, 58.3%-81.0%) over cohort 2 (37.5%; 95% CI, 26.4%-50.0%) and cohort 3 (30.0%; 95% CI, 16.0%47.0%). Investigators also found that those in cohort 1 had the longest median PFS at 11.1 months compared with 6.7 months in cohort 2 and 4.2 months in cohort 3.13,14 These results indicate that trastuzumab deruxtecan is more effective in patients with IHC scores of 1+ than it is in patients with IHC scores of 0, but it says nothing about the relative effectiveness of trastuzumab deruxtecan vs other treatments in patients with IHC scores of 0. It is therefore possible that many such patients would receive some benefit.

I predict that a lot of savvy oncologists will, upon having a patients IHC test come back 0, advise that patient to send the sample to be read at a different lab, knowing theres a strong chance it will be upgraded to a 1 and they will qualify for this treatment, Rimm said. Patients will want to try this medication. Those results were spectacular.

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Metastatic Breast Cancer Enters a New Era of HER2 Classification - OncLive

When discussing fitness, a major focus is often on the number of calories you eat and burn during exercise, especially when it comes to weight loss or weight gain. But did you know you're still burning calories even at rest? Even though exercising is important and has many health benefits, it only makes up a small percentageof the calories you burn throughout the day. In fact, most of the calories you burn go toward involuntary activities and everyday tasks like cooking and cleaning.

There are many factors that determine how many calories you burn at rest versus during a workout, so we spoke to experts to get a clearer explanation. Read on to find out how many calories you burn daily and why it's helpful to know these details.

As you can imagine, the number of calories burned varies per person. Your total daily energy expenditure is the number of calories you burn in a day, including exercise. In order to get this figure, you first need to find out a few other calculations.

One of these key figures is your basal metabolic rate, which is the minimum number of calories your body needs to burn to maintain basic functions such as heart rate, breathing and digestion. "The number of calories your body burns while you're at rest is determined by your BMR," saidDr. Brittany Robles, an OB-GYN physician and a National Academy of Sports Medicine certified personal trainer. Things that affect your BMR include your age, weight, muscle mass and activity level. Your BMR accounts for about 60 to 75% of your daily energy expenditure.

A helpful way to determine an estimate of what your BMR is, is by using the popular Harris-Benedict Equation. This formula takes into account your weight, height, age and gender.

BMR calculations based on men and women:

Men: BMR = 66.5 + (13.75 * weight in kilograms) + (5.003 * height in centimeters) - (6.75 * age)

Women: BMR = 655.1 + (9.563 * weight in kg) + (1.850 * height in cm) - (4.676 * age)

Knowing your BMR can be helpful if one of your goals is to lose weight, but Robles says to keep in mind that this method is only an estimate. "The most accurate way to measure your BMR is through indirect calorimetry, which involves measuring your oxygen consumption and carbon dioxide production," she said. Generally, it's not necessary to go this far to measure your BMR since it's expensive, mainly used in research settings and isn't practical for everyday use.

Once you have an estimate of your BMR, you can use it to find your TDEE. To figure this out, you need to multiply the BMR and your activity factor. There are different types of formulas you can find online, but the Harris-Benedict Equation is the most popular and uses a rubric for activity factors that range from sedentary, moderate to strenuous. The rubric used is: 1.2 (for sedentary), 1.5 (for moderate) and 1.7 (for strenuous) and 1.9 (for very active individuals).

Your body also burns calories through activities such as fidgeting, walking or doing other everyday tasks.

Besides BMR, your resting metabolic rate, the thermic effect of food, non-exercise activity thermogenesis and exercise-related activity thermogenesis also play an important role.

RMR: RMR and BMR tend to be used interchangeably because both make up the basis for how many calories you burn when you're not exercising. The difference is your RMR looks at the number of calories you burn when you're at rest, including regular activities like eating, while BMR only looks at the number of calories you burn for vital functions like breathing. To find out your RMR, you use the same BMR formula to get a result.

TEF: The thermic effect of food is the number of calories your body burns in order to digest and absorb food. The TEF accounts for 10% of your daily energy expenditure. To find this number, calculate: BMR X 0.1= TEF.

NEAT: Non-exercise activity thermogenesis is the number of calories your body burns through activities that are not exercise, such as fidgeting, walking or doing other everyday tasks. It makes up about 15% of a sedentary person's total daily energy expenditureand up to 50% or more for highly active people. Your occupation heavily influences your NEAT. Hence, why a construction worker or someone who works on their feet all day will have a higher NEAT number than someone who works at a desk all day.

In order to find out your NEAT number, you first need to know your total daily energy expenditure figure. Once you determine the figure that fits your lifestyle best, you'll be able to get your NEAT number.

The formula used to calculate NEAT is: TDEE - (BMR + TEF) = NEAT

EAT: Finally, EAT refers to intentional exercise and accounts for an estimated 15 to 30%of your total energy expenditure. Therefore exercise doesn't make up for much of your overall calories burned daily.

"All of these factors play a role in how many calories you burn in a day," said Robles. "RMR and BMR make up the basis for how many calories you burn at rest, and TEF and NEAT add to this total by representing the number of calories you burn through activity."

Individuals with higher muscle mass tend to burn more calories at rest than those with less.

Now that you know about the different ways our bodies burn calories, it's important to understand how your lifestyle habits can influence this too. Matt Scarfo, a National Academy of Sports Medicine certified personal trainer, told CNET, "People with larger bodies burn more calories than those with smaller bodies because they need to keep their blood flowing, their muscles oxygenated and their cells operating." Additionally, if your body composition changes, the number of calories you burn at rest will change.

"Individuals with higher muscle mass tend to burn more calories at rest than those with less, since muscles require a lot of energy," explained Scarfo. Hormone cycles can also affect your energy needs, which is why some women get hungry during the high hormone phase of their cycle, leading up to their period.

Then there are the changes that come with aging. "As you age you will often lose muscle mass, which leads to a slower metabolism," saidRachel Macpherson, an American Council on Exercise certified personal trainer and certified nutrition specialist. "Menopause and reduced testosterone can cause metabolic slow down as you age too," she added.

Therefore if you're trying to lose weight, gain weight or maintain your weight, knowing an estimate on how many calories you burn regularly can give you a better guideline on how many calories you should be intaking a day. "If you want to lose weight, you can decrease your calorie intake from your total daily energy expenditure, but only a small one so as not to slow your metabolism too much," explained Macpherson. Likewise, if you want to gain muscle or weight, you will need to eat more than you burn.

It's important to remember that most of these calculations that determine how many calories you burn while exercising or at rest are simply estimates. They can help serve as a guide to help you better understand the different ways your body burns calories, but they're not definitive. If you're looking to lose weight, gain weight or simply maintain your weight, it's best to receive advice from a certified dietitian nutritionist.

The information contained in this article is for educational and informational purposes only and is not intended as health or medical advice. Always consult a physician or other qualified health provider regarding any questions you may have about a medical condition or health objectives.

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How Your Body Burns Calories At Rest, During Workouts and More - CNET

On August 28, the United States sent two Ticonderoga-class guided-missile cruisers through the Taiwan Strait, the first such freedom-of-navigation mission since House Speaker Nancy Pelosis visit to Taiwan was met by a large-scale show of force by China. Beijing, of course, protested the sailing. On June 13, the Chinese foreign ministry declared, There is no such thing as international waters in international maritime law. Beijing claims that Taiwan is a renegade province, thus making all the waters between it and the mainland an internal waterway.

The United States usually only sends one warship at a time, a destroyer. Sending both the USS Antietam and USS Chancellorsville, the largest surface warships in the fleet except for aircraft carriers was meant to be a strong demonstration of resolve in the wake of Beijings live-fire exercises around the self-governing island. Chinas state media, however, tried to downplay this, arguing the US is fully aware of and fear of the PLA's capability so that it needs two warships to accompany with each other to embolden themselves But the Ticonderoga-class cruiser is a very old warship, and the PLA's Type 055 is much more advanced. Beijing is also aware that nine Ticonderoga-class ships are slated to be decommissioned. The USS Vella Gulf was in fact taken out of service three weeks before its sister ships sailed through the Taiwan Strait. It had served only twenty-nine years out of its designed thirty-five-year lifespan.

The Navy has tried to justify retiring the cruiser force early because it costs more to maintain older ships, putting a strain on maintenance funding and the capacity of the ship repair industry. Seven of the cruisers are in some phase of a service-life extension and modernization program, which is requiring significant manpower at repair yards, running years late, and costing more than the service budgeted for. Theyre eating us alive in terms of our ability to get maintenance back on track, which is where we need to be, Chief of Naval Operations Adm. Mike Gilday told a recent conference.

So, the real problem is an inadequate naval industrial base to support a fleet large enough to carry out its global missions and meet the challenge of a fast-growing Chinese navy that seeks to control the Pacific Rim. At risk are the territories and trade of every nation in the region, not just Taiwan. The collapse of the American commercial shipbuilding industry decades ago denies the U.S. Navy mobilization capacity, whereas China has created the largest shipbuilding industry in the world.

The most cited target number for the size of the Navy comes from its 2016 goal of 355 manned ships. Of these, only 104 were Large surface combatants (cruisers and destroyers), which at the time included the Ticonderoga-class cruisers. The Navy currently has 300 battle force ships (up from a low of 279 in 2007, which was less than half as many as at the end of the Cold War). In April, the Navy issued a new plan with alternatives based on funding. Under Alternative 1, the Navy would have 300 manned ships in 2035 and grow to 316 manned ships by fiscal year (FY) 2052. Under Alternative 2, the Navy would have 300 manned ships in 2035 and grow to 327 manned ships by FY2052. These two options assume no real increase in funding. Under Alternative 3, which hopes for a very modest 3-5 percent real growth in funding, the Navy would still have 300 manned ships in 2033 but would grow to 367 manned ships by FY2052. These figures do not provide much solace for those who believe there will be crises in the Indo-Pacific involving China well before 2035.

According to the recently released Chief of Naval Operations Naval Plan 2022, To simultaneously modernize and grow the capacity of our fleet, the Navy will require 3-5% sustained budget growth above actual inflation. Short of that, we will prioritize modernization over preserving force structure. This will decrease the size of the fleet until we can deploy smaller, more cost-effective, and more autonomous force packages at scale. The Nation cannot afford to cede influence to China or Russia. Nor can it afford to lose combat credibility. And that decrease already calls for decommissioning of twenty-four ships in the FY2023 budget, more than just the cruisers. The autonomous force packages will be unmanned vehicles, some with significant firepower, but they will not begin to join the fleet until after 2027.

The Navy has estimated to Congress that expanding the fleet even at the modest pace of Alternative 3, would require an additional $13 billion per year to build, man, and operate a larger fleet. When President Biden issues an Executive Order canceling $300 billion or more in student loans, after enacting a series of spending bills amounting to some $3.8 trillion in additional spending for pandemic recovery, infrastructure, green industry development, and other projects, the Navys request seems hardly noticeable. Yet its legislative prospects are uncertain despite the bipartisan consensus on the China threat.

Warships are not just procured; they need to be built, which brings the industrial base back to the center of discussion. In 2019, I wrote a piece for the U.S. Naval Institute that went beyond concern for backlogs in repair and maintenance to point out that there was no excess capacity to handle battle damage if the Navy actually had to engage in sea battles for the first time since World War II. None of these problems have been remedied in the years since and there is even now a question of whether a larger fleet can be built, let alone maintained.

On August 25, Admiral Gilday stated that We have an industrial capacity thats limited. In other words, we can only get so many ships off the production line a year. My goal would be to optimize those production lines for destroyers, for frigates, for amphibious ships, for the light amphibious ships, for supply ships. Gilday noted that he wanted to produce three destroyers and two or three submarines a year, but there are doubts that there is room for a third destroyer or submarine at U.S. shipyards. This is not a new problem. Much work was done in 2017 calling for new investment in shipyard capacity for construction and maintenance. Human capital is also needed as the shipyard workforce is aging. Shortages in skilled labor are an economy-wide problem but deserve special public attention when it impacts national security.

Newport News Shipbuilding and Virginia Peninsula Community College have teamed up to offer a program to foster solid careers in a strategic field that can provide satisfaction beyond a paycheck. More such programs should follow across the country as the supply chains for the defense industry are national. Yet, even if the needed increases in training, innovation, and funding are forthcoming, it will take years to send more warships to sea.

This is why it seems so risky to decommission major warships when short-term dangers loom. Beijing is watching closely for a moment when the balance of power in the Indo-Pacific shifts enough to offer an opportunity to strike. Peace depends on deterrence and deterrence depends on the capabilities that exist each day, not a decade or two from now. The Ticonderoga-class cruisers may not be the most modern warships but they still pack a punch with 122 missile cells plus additional launchers for Harpoon anti-ship missiles and torpedoes. Its Aegis radar needs an upgrade but is still better than most of what anyone else has afloat. Best of all, it exists and can hold the line until something better comes along to take its place rather than leave a void the Chinese will try to exploit.

William R. Hawkins is a former economics professor who served on the professional staff of the U.S. House Foreign Affairs Committee. He has written widely on international economics and national security issues for both professional and popular publications.

Image: Flickr/U.S. Navy.

Read the original post:
Build to Deter: The Navy Needs More Ships to Take on China - The National Interest Online

Spacecraft running low on fuel could get a refill from an orbital station by the year 2025, according to a startup named Orbit Fab that reckons it can charge $20 million to top up your tank.

The American upstart believes there's a market for its planned service because the growing number of companies launching satellites want their hardware to have longer working lives. One way to achieve lengthier missions is orbital refueling.

Orbit Fab is therefore hoping to build, for want of a better word, a depot 300 km from Earth in geostationary orbit that can send out shuttles each containing, say, 100kg of hydrazine to visiting satellites and potentially other spacecraft that need a refill and can plug into the tanks.

And suitably capable spacecraft could dock with the depot to pick up fuel for themselves or to take to satellites and other craft, SpaceNews reported.

Orbit Fab's rendering of its refueling station ... Click to enlarge

Co-founder and chief development officer Jeremy Schiel said government agencies and private operators have "expressed explicit interest to get refueled in the next three to five years." He also said that the design of the fuel depot system is "basically done," and that the company is now working on designing its fuel shuttles.

"It's much easier to come up with a price for GEO [geostationary orbits] because it's one orbit," Schiel explained. "You're going to have to have a different price point on each different orbit in low earth orbit because of how you're going to get there. We're tackling the easy commercial price of GEO first and then we'll start working our way down."

Astroscale, an orbital debris removal biz, is the only customer that has publicly signed up for the satellite refueling service. Orbit Fab has committed to supplying 1,000 kilograms of xenon propellant to top up Astroscale's Life Extension In-Orbit (LEXI) satellites, which are capable of being refueled in space and are scheduled to launch in 2026 into geostationary orbit.

These satellites, and other future craft, need to include Orbit Fab's Rapidly Attachable Fluid Transfer Interface (RAFTI) ports that the fuel shuttles will use to top up visiting craft.

Spacecraft in geostationary orbits today won't have RAFTI ports, and Orbit Fab will need to come up with another method of refueling them. Schiel said the startup will have to rely on third-party vehicles that are compatible with what's already in space as well as Orbit Fab's hardware, such servicing spacecraft built by Northrop Grumman or Astroscale.

"They can go service the legacy satellites and we can service the servicing vehicles that are coming online," Schiel said. "Eventually, when everyone's flying a RAFTI fueling port, we can start going directly to them."

The Register has sought further comment from Orbit Fab.

See original here:
Startup wants to build a space station that refuels satellites by 2025 - The Register

The Division of Human Genetics, in the Department of Internal Medicine, offers outpatient and inpatient consultation services, performs clinical and translational research and participates in community education and outreach. Our physicians and faculty collaborate with colleagues throughout our medical center and around world. Additionally, the Master of Genetic Counseling Graduate Program addresses the rapidly growing need for genetics professionals.

Our comprehensive services include a Clinical Cancer Genetics Program with risk assessments and genetic counseling to 800 patients yearly and, as needed, their families. A Cardiovascular Genetic and Genomic Medicine Program, in conjunction with Ohio States Division of Cardiovascular Medicine, offers consultation for hereditary forms of heart disease at multiple clinics. And the Medical Genetics and Genomics Program provides risk assessment, genetic counseling and, when appropriate, genetic testing for the many different conditions that can run in families. These can range from bleeding and blot-clotting disorders to diseases of the skin, kidney, lung and eye. The Neuroscience Genetics and Genomics Program focuses on neuromuscular disorders, but also provides consultation for a wide array of neurological conditions.

Our program offers risk assessment tools for health care providers, including the interactiveFamily HealthLinkwhich allows you to estimate your own risk by reviewing patterns of cancer, heart disease and related conditions in your family.

Whether originating from a single gene, a chromosome or inherited genetic disorders encompass a broad span of conditions. Ohio State's Division of Human Genetics is a leader in providing the most up-to-date, thorough and advanced information available.

Genetic testing can be provided on a clinical or research basis. Genetic testing is routinely performed on a small sample of blood, saliva or cheek swab.

See original here:
Genetics | Ohio State Medical Center

In the United States, the National Center for Health Statistics estimates the life expectancies of males and females are 74.5 years and 80.2 years, respectively. For healthy aging, the Centers for Disease Control and Prevention (CDC) states that physical activity is key.

To find out whether physical activity had an advantage over genetics in promoting longevity, researchers at the Herbert Wertheim School of Public Health and Human Longevity Science at the University of California San Diego and other institutions conducted a nationwide study.

After analyzing health data of more than 5,000 older postmenopausal women, the researchers found that higher levels of light, moderate, or vigorous physical activity correlated with a lower risk of all-cause deaths. The findings expanded on prior studies that have shown that more sedentary time carries greater health risks.

These associations persisted across varying levels of genetic potential for living longer.

[The] findings support the importance of higher physical activity (PA) and lower sedentary time (ST) for reducing mortality risk in older women, regardless of [their] genetic predisposition for longevity, the researchers wrote.

Their prospective study was recently published in the Journal of Aging and Physical Activity.

From 2012 to 2020, the UC San Diego researchers analyzed data on the physical activity of more than 5,000 ambulatory women ages 63 and older.

Lead author Alexander Posis, MPH, a doctoral student in the San Diego State University/UC San Diego Joint Doctoral Program in Public Health, explained the significance of the OPACH study to Medical News Today:

Our study used pre-existing data from the Objective Physical Activity and Cardiovascular Health (OPACH) study, which is part of the Womens Health Initiative (WHI) that started in the early 1990s because women had not been included in many epidemiologic studies and clinical trials.

Alexander Posis, MPH, lead author of the study

The OPACH study focused on associations between physical activity, cardiovascular disease, and injury risks. The data generated allowed researchers to look at physical activity and the risk of mortality, cancers, cognitive decline, and physical disability as well.

Other research using the OPACH study found associations with physical activity (PA), sedentary time (ST), and mortality during an average follow-up of 3 years. However, no one had explored any possible genetic influence on these associations.

The UC San Diego study aimed to use a follow-up of 6 years and adjust the results with a weighted genetic risk score (GRS) for longevity.

OPACH participants wore an accelerometer 24 hours per day for 7 consecutive days.

The device measured the amount of time the women spent moving or being still and the intensity of any activity.

The researchers defined total PA as movement resulting in energy expenditure. They categorized PA intensity and ST minutes using predetermined cut points applied to the accelerometer counts.

Genome-wide association studies (GWAS) have linked multiple single-nucleotide polymorphisms (SNPs), or genetic variants, to longevity.

The UC San Diego cohort developed a weighted GRS based on three SNPs strongly associated with long life. This metric compared survival to age 90 versus death before age 90.

Covariates, or characteristics among the studys participants, included age, education level, body mass index (BMI), self-reported health status, and other details. Participants race was also a factor but was limited to white, Black, and Hispanic ethnicities.

The study also analyzed chronic conditions present before or after participation, including cancer, depression, frequent falls, and cardiovascular disease.

Of the 5,446 women in the present studys sample, 1,022 passed away during follow-up.

The authors determined that 36% of the total population had a high GRS, 33.1% had a medium GRS, and 30.9% had a low GRS for longevity.

The researchers firstly found that physical activity, of light or moderate-to-vigorous intensity, was associated with a lower risk of death while higher ST was associated with a higher risk of death. Interestingly, these associations persisted regardless of ones genetic predisposition for longevity.

Interestingly, the low-GRS individuals were younger, more active, and had higher physical functioning scores than the other GRS groups. Those with low GRS were also more likely to be of Black race/ethnicity than the medium and high GRS groups.

Our study showed that, even if you arent likely to live long based on your genes, you can still extend your lifespan by engaging in positive lifestyle behaviors such as regular exercise and sitting less, Aladdin H. Shadyab, PhD, the studys senior author and assistant professor at the Herbert Wertheim School of Public Health and Human Longevity Science, said in a news release.

Historically, women have been significantly underrepresented in clinical trials. Using data from the OPACH study was a step forward in inclusive research.

However, the resulting lack of male participation created a limitation on the UC San Diego studys findings.

Based on the design of our study, we were not able to make any inferences on men. But we hope that future studies will examine these associations in study cohorts that include men as well as those in younger age groups, Posis told MNT.

Dr. Scott Kaiser, a geriatrician and director of Geriatric Cognitive Health for the Pacific Neuroscience Institute at Providence Saint Johns Health Center in Santa Monica, CA, told MNT the work is a well-done study [ with] a lot of great data. However, he cautioned that the current study is an association study and not designed to prove causality.

I think this just supports an increasing amount of evidence that our genes are not our destiny [] It shows that there is a stronger association between longevity with physical activity than [with] genetics, Dr. Kaiser said.

Noting that the present study focused on only certain markers of longevity, Dr. Kaiser added that researchers need to determine other such factors. For instance, he said that the SNPs used to calculate the GRS were more common among people of European ancestry.

Dr. Kaiser said the term sedentary time might not be appropriate. It does not account for people who are unable to walk but can still engage in other physical activities such as chair exercises.

Its whether you just have some consistent physical activity versus somebody whos overall physically inactive, he said.

Dr. Kaiser hopes the public will understand that genetics do not trump a healthy lifestyle for reducing disease and mortality risk.

When it comes to healthy aging, exercise is about the closest thing we have to a miracle drug, he said.

The whole take of this [study] is that even if you could go to your doctor and get a fancy genetic test to see whether or not you have markers of longevity, it doesnt matter as much as whether you get up off the couch and exercise on a regular basis.

Dr. Scott Kaiser, geriatrician and director of Geriatric Cognitive Health for the Pacific Neuroscience Institute in Santa Monica, CA

See the article here:
Regular exercise may help women live longer, regardless of their genes - Medical News Today

In my previous article on a similar subject, The Whitaker Family: Horrors of Inbreeding, readers traveled through the horrors of inbreeding. As we talked about how inbred children are at a higher risk of recessive genetic disorders, lets continue the discussion with another popular term, the Habsburg Jaw, which scientists have confirmed is the result of royal inbreeding.

When someone wrote to me that the British Royal Family does not own the patent of inbreeding, I decided to write about Habsburg Jaw, which directly relates to the Habsburgs, one of the most prominent dynasties which ruled a vast European empire for centuries.

Before understanding the Habsburg Jaw, let us turn the pages of history to understand the Habsburgs, who as rulers, archdukes and emperors, did everything in and beyond their powers to keep a tight grip on the empire they ruled. The Habsburg, also known as the House of Austria, ruled Austria from 1282 until 1918. Apart from this, they controlled Hungary and Bohemia from 1526-1918; Spain and the Spanish empire for more than two centuries from 1504-1506 and 1516-1700.

The Habsburgs are also remembered for ruling Slovenia, Slovakia and Croatia, as well as vast parts of Poland, Romania and Italy. If you dont know this, the Habsburgs actually began to rise to power in 1273 as Rudolf I became the German King. Now, as a lover of history, youd remember that Ottokar II Premysl of Bohemia refused to recognize him as a king and the same sparked a major royal beef.

Ottokar managed to become the king of Austria but as he was killed in battle, Rudolf stepped in and granted the land to his sons. That was it, the Habsburgs were unstoppable since that day in history as they spent the next century in empire-building. The family was lifted to A-list Royal status when future emperor Maxmilian married Charles the Bolds daughter Mary and gained control over the Burgundy region.

Now, if we speak of the Habsburg royal clam, it included names like reformer Joseph I; Leopold Wilhelm (emperor, bishop and patron of arts); Rudolf II (Pragues promoter of science and art), Charles VI (Spains ruler who was succeeded by his daughter). This era gave a rise to striking similarities

The Habsburgs came into their full regal power in the 1600s and enjoyed its fruits through the early 1700s. TheHabsburg royal clan included Leopold Wilhelm, an emperor, bishop and patron of the arts; reformer Joseph I whose motto was by love and fear; Charles VI who ruled Spain and set up his daughter to take the crown; and Rudolf II, who decided to live in Prague, where he promoted science and art.

It was during this era that gave rise to a striking similarity in the jawline of the royal members of the Habsburg family, which came to be known as the Habsburg Jaw. Researchers revealed a stark reality that generations of inbreeding among the Habsburgs resulted in Habsburg Jaw, which ultimately caused their downfall.

The best example is that of Charles II, the final male heir, who became physically incapable of having children, and the reasons were plain and simple! The Habsburgs royal familys genetic line progressively deteriorated due to the excessive incest among them. The Habsburg Jaw was more prominent in males than females.

However, Mariana of Austria (Queen of Spain) remains a disturbing yet perfect example of the Habsburg Jaw. Apart from this, one of the most famous Habsburg members, Marie Antoinette of France too could not dodge the Habsburg jaw. She had a projected lower lip which made her look as if she was always pouting.

In the greed to remain Europes most powerful royal family, marriages between biological relatives became a common affair in the ruling houses of Europe. For instance, the Spanish Habsburgs dangerously engaged in incest despite its terrifying consequences. Youd be shocked to know that nine out of the 11 marriages in this family during their 184 years of rule in Spain (1516 to 1700) were incestuous in nature.

To quote famous examples, Charles 1 of Spain and Joseph I were both infamously known for having extremely prominent lower jaws. So what was the consequence? How did they get it? Why were stark similarities amongst the members? The plain and simple answer to the latter is incest. Such revelations were made in the 1988 article Journal of Medical Genetics, which stated that nine successive generations of the Habsburg family were found having this jawline, which came to be commonly known as the Habsburg jaw.

The article reported that at least three generations of this family had similar facial characteristics, called mandibular prognathism, which is a medical term for this kind of jaw. In this condition, the jaw moves so forward that it causes an extreme underbite as the teeth dont line up as they should in a normal human body. They also suffered from the thickened lower lip, misshapen nose, everted lower eyelids and flat malar areas.

The article narrated that this came as a result of constant incestuous relationships in the family and also gave rise to Mandibular Deficiency. The term was described as a pattern of abnormalities, including skeletal, neuromuscular, occlusal and esthetic conditions that can affect a persons speech and ability to eat.

Apart from this, the Habsburgs suffered from numerous ailments like dropsy, asthma, epilepsy, gout, and melancholia. Many accounts reveal that the Habsburg jaw originated among the Polish royals and it was Maximilian 1 (King Of Rome from 1486 and the Holy Roman Empire from 1508 until his death), who was found with this jaw.

For a very long time, there was no research to back the fact that the Habsburg jaw was a result of excessive inbreeding. However, Francisco Ceballos, a geneticist came up with mind-boggling research as the continued to study the facial deformities in 66 portraits of 11 Habsburg family members.

The researchers implemented statistical methods to analyze the effects of inbreeding on the degree of Mandibular Porganathism and Maxillary Deficiency. They found out that the two traits share a common genetic basis. Ceballos stated the following:

The Aha! moment was when we discovered that the MD is affected indeed by inbreeding, and that the Habsburg face is indeed related to their consanguinity. This is the first time that science backs up this statement

Their research revealed that facial deformities, as well as mental illness, are rooted deep in the Habsburg family. So how does inbreeding affect generations? The study revealed that mating between relatives increases the odds of inheriting identical forms of a gene from both parents called genetic homozygosity. This reduces an individuals health.

The best example of such a case is Charles V, who suffered from at least two conditions resulting from recessive mutations in different genes: pituitary hormone deficiency; which can result in infertility; and distal renal tubular acidosis; which causes kidney failure. The Habsburg family basically serves as a complete human laboratory for most researchers on the subject because the range of inbreeding among them was extremely high.

The latest research on the Habsburg family includes a December 2019 paper from Professor Vilas from the University of Santiago de Compostela. Per his research, the Habsburg dynasty was the most influential in Europe but was more famous for inbreeding which caused its downfall. The paper made an alarming conclusion that there is a crystal clear positive relationship between Habsburg Jaw and Inbreeding.

Various scientists and doctors have established that inbreeding leaves the offspring at a greater risk of congenital defects and genetic diseases. Check out this video to understand more about inbreeding.

While it may be true that marrying among relatives may have helped the Habsburgs seize power for a longer time, recessive genes became a reason for the downfall of their empire. Not only this, but inbreeding passed a series of genes that produced birth defects. The Habsburg dynasty came to an end with Charles II, who struggled to eat and speak due to his prolonged lower jaw. He was mocked as the most inbred king of all.

Not only this, but Charles II was short, impotent, weak, mentally handicapped and suffered from numerous intestinal problems. As a child, he could not speak until he turned 4. His feeble mind and physically deformity resulted from a limited gene pool. One French Ambassador wrote about him The Catholic King is so ugly as to cause fear and he looks ill. This was the time when a word was sent for his marriage.

Alexander Stanhope, an 18th-century British envoy wrote about Charles II in his book Spain Under Charles The Second, that he has a ravenous stomach and swallows all he eats whole, for his nether jaw stands so much out, that his two rows of teeth cannot meet; to compensate which, he has a prodigious wide throat so that a gizzard or liver of a hen passes down whole, and his weak stomach not being able to digest it, he voids in the same manner.

As an inbred, Charles II could not have children and many researchers speculated that he may also have been impotent. The last king of the Habsburg dynasty died in 1700 at the age of 38 years. This was the horrific end of a royal who was accumulating two centuries of harmful traits passed down to a single body.

See the article here:
Habsburg Jaw: The Horrific Consequences of 'Royal Inbreeding' in Europe - TheTealMango

For those who have problems maintaining an erection during sexual activity, there is Alpha Beast XL, a potent male enhancement. It will enhance your libido and produce a more pleasurable experience during sex.

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This feature enables users to recuperate in bed and spend more time in the snooze chair.

Improves sexual performance

Increased blood flow increases penis size during erection.

It has the potential to improve circulation system-wide.

The user's self-esteem in the bedroom may be restored.

Both the kidneys and heart will benefit to some extent from this.

Negatives

If ED stems from psychological factors, the formula won't assist.

It's important for men to talk to their doctors before starting any new supplement, especially if they are using prescription medication.

Instructions for Using Alpha Beast XL

Users should take two tablets of the supplement daily, one in the morning and one in the evening, with enough water for maximum effect. As with any nutritional supplement, the results will vary depending on the individual using it. The outcomes might vary from one person to the next because of variables such as age, genetics, food, and the environment (such as climate and geography). However, after only a few weeks of use, most men report seeing positive results.

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Erectile health maintenance strategies

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The next condition is optimal cardiac health. To provide a stress-free genitourinary system, it must efficiently transport blood to all parts of the body.

And last, the blood itself must be of the highest quality with nothing tainting it; only healthy kidneys can do it.

After all, the brain is the seat of all beliefs. Therefore keeping it in excellent shape is crucial to maintaining an erection. This one has the potential to cause some confusion.

Healthy diet

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Maintaining a healthy body is the first step, so try to avoid processed and fatty meals as much as possible.

Improved blood flow

A healthy lifestyle includes a lot of water, avoiding harmful substances like alcohol and drugs, and eating balanced food.

The greatest approach to maintaining the kidneys in tip-top shape, allowing them to better cleanse the blood traveling to the corpora cavernosa, is to drink enough water, as everyone knows. That way, not only will men have greater stamina and energy, but their erections will be more robust as well.

Clear Brain

Having a positive mental attitude may appear counterintuitive, but it really helps one think more clearly and act swiftly when the time is right.

This will make it more susceptible to erection-inducing stimuli.

If men master these two skills, they will be well on their way to the second phase of this exercise, which islearning to deal with short-term stress.

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Routine physical activity

Daily exercise for at least 30 minutes is the key to developing the endurance and strength of a stallion in bed.

Exercises like Kegels and Pilates may work wonders since they increase blood flow to the pelvic region, which in turn promotes hard, lengthy erections.

It can be tedious to keep track of all these things. This is where Alpha Beast XL helps.

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Alpha Beast XL Reviews (USA & Canada): Is It Legitimate Or Scammer? Shocking Ingredients Alert! - Deccan Herald

Mortality has always been on Perry Jones mind, much more so than your average 20-something. Shes dealt with a number of challenging health conditions since her teens, so when her mother urged her to be screened for the BRCA1 variant and BRCA2 variant gene a couple of years ago (both of which indicate a high risk of breast and ovarian cancer) she didnt exactly jump at the chance.

Jones, who has type 1 diabetes, coeliac disease and spinal development issues, speaks about her dealings with the health system in the world-weary way of someone whos been in and out of waiting rooms her whole life.

Ive got the whole wazoo. So a part of me was like, Whats the likelihood that Im going to have another thing? Itll be fine. Theres no point.

But Jones mother insisted. After all, shed been diagnosed with breast cancer at the age of 40. Mum said its better to know than not to know. And if we know, then we can warn others in our family and we can look into better treatment methods for ourselves in future.

Eventually, Jones agreed to take the saliva test. And then I forgot about it. So when I did get that phone call, to tell me I had the (BRCA1) gene, I was like, Oh, youve got to be kidding me.

Jones results have the potential to save her life, but they have also irrevocably informed the way she views and plans for her future, regardless of whether she ever receives an eventual diagnosis. As technological advancements and decreasing costs make testing accessible to broader swathes of the population, what does it mean to know the risk embedded within our DNA?

Last month, Monash University launched DNA Screen, offering 10,000 people aged 18 to 40 secure, free DNA testing to identify risk of cancer and heart disease that can be prevented or treated early.

The study is a chance to gauge the public appetite for preventive genetic testing (as opposed to the current status quo of clinical criteria-based testing) and could help Australia become the first country to offer preventive DNA screening through a public healthcare system.

The appetite from people in this age bracket was overwhelming. The DNA Screen team initially aimed to contact young people across social media to spread the word. Instead, without social media promotion, the website reached their target of registering 10,000 people to do the at-home saliva tests in 24 hours.

The interest is enormous, says Jane Tiller, co-lead of the project and ethical, legal and social adviser for Public Health Genomics at Monash.

DNA Screen, which is partly funded by the federal government, is attempting to pilot and demonstrate the value of population-level screening in an effort to provide greater access to genomics for everyone, similar to the mass bowel and breast cancer screening the government already funds for older Australians. Historically, the costs of genetic testing have been prohibitive, which meant it was only available to people with a family or personal history of disease, but up to 90% of people at high risk are not identified by current family history-based testing.

Although there are many genes that could be studied, the researchers picked 10 gene variants because the conditions they can lead to are medically actionable and there are already preventive measures for them hereditary ovarian and breast cancer, Lynch syndrome and familial hypercholesterolaemia (which increases the likelihood of having coronary heart disease at a younger age).

Those found to be at high risk after DNA testing expected to be about one in 75 will have their situation explained by experts and be offered genetic counselling and prevention measures, such as regular scans and check-ups. Given the stats, roughly 130 people from the study are likely to be found to be high risk. But what does it mean to scale up genetic screening and introduce mass preventive testing into any health system?

Bringing genetic screening into public health has huge promise if we use it wisely, says Prof Ainsley Newson, professor of bioethics at the University of Sydney. But there are questions to consider. For health problems where there isnt a good way to find and diagnose people, can genetics help? If a gene test exists, is it reliable in diverse populations? Does it only detect what we want to know, and nothing else? Is the health system ready to support those who are identified as at higher risk? Is there something people can do with the information it generates, and is there evidence that they will take that action?

Tiller and her co-leads have considered those same questions. If we were to test the whole of Australia tomorrow that would likely identify a number of people that may start to create a strain on a service that may not be resourced to deal with that many people, she says.

But we cant pretend that just not screening is the answer to protect the resources of the health system, because people who are at risk and develop cancer and need care will eventually need that system. And its far better to front-load your preventive care and keep people healthy and well.

The response for the DNA Screen study indicates there is widespread demand for this information beyond people such as Jones with family histories. It is powerful and heavy knowledge. Who seeks this information out?

Its a mix of people who are very big on preventive health who see that connection between finding out information now and being able to do something about it and then people who are just curious, says Tiller. Weve seen a huge increase in ancestry testing in recent years and people being interested to see whats in their genes.

Therell always be people who say, Im not interested in that. I would be too worried. I wouldnt want to know. And thats completely a personal choice.

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Communicating what the results could mean is a vital first step. Tiller says they want to ensure people understand that finding a gene is not a diagnosis of a condition and that not finding a gene doesnt mean they wont ever get cancer or heart disease.

This isnt about fear-mongering we really want to say to people, If you would like to know about this, this can empower you to take preventive steps for your own health.

So what does it mean for a young person to take on that information, to shape their hypothetical future with knowledge that wasnt available to any of us just a few years ago?

For the one in 75 people who are found to be high risk, it can of course be distressing, says Tiller. Theres a lot of support thats required in the initial stages of giving people that information, giving them space to perhaps feel some distress, to grieve over what that might mean for them and to support them through the next steps of decision-making.

Every person reacts differently to what their results could mean for them and their family. For Jones, her results have meant a cascading series of future choices and consequences, all of which are hypothetical at this stage.

Protective surgery such as a double mastectomy was initially suggested, which Jones has thus far resisted. She was also told that she should consider having her ovaries removed as soon as possible. So that changed my view of my timeline for starting a family.

Jones is also acutely aware she could pass the gene on to future children. Shes single and is studying a bachelor of design that she loves. Shed like to travel after graduation, maybe land an internship, meet someone nice.

But concurrently, at the age of 28, she has already weighed up scenarios such as freezing her eggs (shes opted not to thus far); considered what shed do if an embryo tested positive for the variant (she would abort), considered the financial implications of IVF (shed rather conceive naturally, especially given she needs to save a deposit for a house); weighed up how shell tell a future partner about her genetic risk (shed be upfront); and worried about menopause and what it means for removing her ovaries (Im actually more worried about that than the cancer at the moment to be honest). Those possibilities are a lot to deal with, she says. Shes banking on her future self, future and more mature Perry, to be able to handle them.

The knowledge she carries with her doesnt keep me up every night, but its definitely something ticking away in the back of my mind.

But despite all these considerations, Jones is grateful for the opportunity to be tested.

Having the test gave me a sense of control, even if I cant control whether or not I develop cancer. Im in control of knowing about it. I know the risks and I know what steps I can take to capture it as soon as possible if it develops.

Two years on from receiving her results, Jones is philosophical about living with what she knows. Shes much more vigilant and shes made peace with having to endure extra tests.

She also reminds herself that theres a chance that she may never be diagnosed. I guess I just accept that its part and parcel of the body that allows me to live. So whatever it comes with, Im just going to have to deal with. And as much as I dont like carrying these genes, its better to be alive and have them than not at all. So Im still thankful for this meat cage that contains my consciousness.

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Ticking away in the back of my mind: what does it mean to know the risk embedded in your DNA? - The Guardian

The largest RNA study ever conducted in hereditary cancer analyzed more than 43,000 patients who received Ambrys +RNAinsight testing and found that 1 in 950 had an elusive clinically actionable result that would have been missed by DNA-only testing.

Combined DNA and RNA testing identified cancer risk in an additional 1 out of 79 patients compared to DNA-only testing.

ALISO VIEJO, Calif., August 29, 2022--(BUSINESS WIRE)--Ambry Genetics, a leader in clinical diagnostic testing and a subsidiary of REALM IDx, Inc., announced today the findings of a study that showed paired RNA and DNA genetic testing, conducted at the same time, detected elusive pathogenic variants in 1 of every 950 patients that were missed by DNA testing alone. The findings, published in npj Genomic Medicine, highlight the importance of combining RNA and DNA analysis in hereditary cancer testing to give clinicians and their patients the most accurate and comprehensive genetic data needed to inform patient care and achieve the best outcomes.

According to the National Library of Medicine, as of August 2017, there were approximately 75,000 genetic tests on the market, representing 10,000 unique test types. Unfortunately, many of these DNA-only tests exclude large portions of DNA such as introns, a sequence of DNA that is spliced out before an RNA molecule is translated into a protein. In addition to omitting large portions of introns, DNA-only testing lacks the functional context to determine whether a variant increases cancer risk, which can lead to inconclusive results. These limitations may prevent patients and their families from getting accurate results to inform their preventative or therapeutic care.

Concurrent RNA and DNA testing helps identify more patients at risk by determining if an uncertain result from DNA testing is normal or disease-causing, and expands the range of genetic testing to identify mutations that DNA-only testing misses.

"With our +RNAinsight test we were the first company to offer upfront paired DNA and RNA sequencing to give clinicians and their patients the most accurate and comprehensive information about their cancer risk," said Tom Schoenherr, CEO, Ambry Genetics. "This study confirms that conducting RNA and DNA testing together is critical to help identify high-risk individuals who would have been missed by DNA-only testing."

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Previously, published evidence of the value of RNA sequencing has been limited by studies with small sample sizes and enriched cohorts. This study by Ambry is the largest to examine the impact of paired DNA and RNA analysis in hereditary cancer testing. In the study, tests from 43,524 patients who underwent paired DNA-RNA genetic testing using Ambrys +RNAinsight from March 2019 through April 2020 were examined to determine if the paired sequencing detected more pathogenic variants than DNA testing alone. The analysis identified patients who had disease-causing alterations that DNA testing alone would have misinterpreted. Examining the RNA data resolved variant findings in 549 patients (1 in 79 patients) by providing the required functional data for more accurate interpretation of splicing variants. In addition, the analysis showed that 1 of every 950 patients had a pathogenic deep intronic variant that would not have appeared in DNA testing alone.

The results from the study may underestimate the total clinical impact because some of the patients families who are now eligible for genetic testing were not tested. In addition, the ripple effect created by these updated results extends to past and future patients. These downstream benefits were not quantified in the current study.

"This is the largest study of its kind to show the importance of RNA testing in predicting cancer risk," said Carrie Horton, senior clinical research specialist for oncology and first author of the study. "Its clear that RNA analysis has the potential to become a standard practice for genetic testing to improve hereditary cancer care."

A webinar, open to the media, genetic counselors, clinicians and other interested parties, will be conducted on Thursday, September 15 at 10 a.m. PT to review the study findings. Registration information is here.

Ambrys +RNAinsight was the first test to provide comprehensive gene coverage for RNA analysis to help classify and detect DNA variants associated with a variety of cancers including breast, ovarian, prostate, colon, pancreatic and uterine. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed and decreases the frequency of inconclusive results.

About Ambry Genetics

Ambry Genetics, a subsidiary of REALM IDx, Inc., translates scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. It is a leader in genetic testing that aims to improve health by understanding the relationship between genetics and disease. Its unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means Ambry Genetics is first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions.

View source version on businesswire.com: https://www.businesswire.com/news/home/20220829005605/en/

Contacts

Media Contact

Brad LottermanCommunications DirectorREALM IDx949-401-0465blotterman@realmidx.com

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Ambry Genetics Publishes 43,000 Patient Study Showing Combined RNA and DNA Analysis Identifies Patients Who Are High-Risk for Cancer but Would Have...

A teenage boy with Angelman syndrome, whose developmental differences were less substantial than those typically seen with the condition, was found to have genetic mosaicism meaning some but not all of his cells harbored an Angelman-causing mutation according to a case report.

The diagnosis followed detailed genetic analyses done after the 16-year-old was referred to a developmental behavioral pediatrician for evaluation.

Like others found to have mosaic Angelman syndrome, this patient had been thought likely to have another rare genetic disorder, given that the phenotype, or disease characteristics, were not a typical match, the researchers noted.

A broader phenotypic spectrum should be considered for [Angelman syndrome] as patients with atypical presentations may otherwise elude diagnosis, the team wrote.

The study, Atypical presentation of Angelman syndrome with intact expressive language due to low-level mosaicism, was published inMolecular Genetics & Genomic Medicine.

The teens case was reported by a team of U.S. researchers.

As a newborn, the boy had exhibited low muscle tone, but he had not had any problems feeding and had hit motor milestones normally. His walking ability remains normal now, though he continues to have low muscle tone and is easily fatigued with physical activity to the point that he is not able to jump or run, the researchers wrote.

The boy has never had a seizure, but he has a lifelong history of digestive upset and chronic diarrhea, which are Angelman symptoms. As a toddler he began exhibiting hyperphagia an excessive hunger that is not eased by eating and he was clinically classified as obese by age 7.

As he grew, the boys language development was markedly delayed, but not completely absent as is often the case in Angelman. While the boy never babbled like most babies do, he used sign language and a picture-based communication system to express himself in early childhood.

He first began speaking words at age seven, and currently communicates mainly through words. The researchers report that he usually speaks in short sentences just a few words long, and that he is able to ask and answer questions and follow short instructions.

Based on testing done early in childhood, the boy was broadly diagnosed with intellectual disability and adaptive impairments. He has also been diagnosed with anxiety, ADHD, and sleep difficulties. He is in school and receives special education services.

Overall, this clinical picture is not what is typical of Angelman syndrome. Indeed, most Angelman patients show much more pronounced developmental differences, with little to no verbal communication ability and usually seizures.

Given his history of hypotonia in infancy, obesity, hyperphagia, mildmoderate intellectual disability, intelligible speech, normal gait, and lack of seizures, classic [Angelman syndrome] did not match the patients phenotype, the researchers wrote.

The patient was initially suspected to have Prader-Willi syndrome (PWS), a genetic disorder usually characterized by hyperphagia and developmental differences.

PWS is caused by mutations in the paternal copy of theUBE3Agene that is, the copy of this gene inherited from a persons biological father. Angelman syndrome is also caused by UBE3A mutations, but specifically those affecting the copy inherited from the biological mother, called the maternal copy.

Genetic testing of theUBE3A gene showed no abnormalities in the paternal copy, but mutations indicating Angelman syndrome were identified for the maternal copy.

More detailed analyses showed that genetic testing of the maternal copy yielded two results simultaneously: the strongest signal indicated a normal, non-mutated gene, while a weaker signal suggested absence of the maternal copy, indicative of either uniparental disomy or an imprinting error.

Based on this finding, the researchers concluded that the boy has genetic mosaicism meaning that some cells in his body harbor the Angelman-causing mutation while other cells in his body dont, making a mosaic of cells with and without the mutation throughout his body.

Our patient fits the clinical characteristics of mosaic AS [Angelman syndrome] with his strong expressive language skills and mildmoderate intellectual disability, instead of the phenotype of classic AS, the researchers wrote.

Noting that other cases of mosaic Angelman have been reported in the past, the team said that this case highlights the importance of considering a broader phenotypic spectrum for AS during a genetic evaluation.

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Genetic Mosaicism Diagnosed in Case of Atypical Angelman Teen |... - Angelman Syndrome News

As the feasibility of phase 1 clinical trials for prenatal spinal muscular atrophy (SMA) therapies is explored, patient and parent input on prenatal testing and possibly treatment is a valuable tool for guiding research discussions.

Rapid diagnosis and treatment are crucial for infants affected by spinal muscular atrophy (SMA), and with the advent of genetic testing, neonatal and even prenatal diagnosis has become possible. Parent and patient perspectives are important as prenatal diagnosis and treatment become increasingly feasible, and a recent study published in Prenatal Diagnosis found that many parents and adult patients affected by SMA view fetal testing and therapies in a positive light.

SMA is a rare genetic neurodegenerative disorder caused by mutations of the survival motor neuron 1 (SMN1)gene that inhibit SMN protein production. This leads to varying degrees of muscle weakness and atrophy, with symptoms of the most severe form of SMA, type 0, manifesting before birth.

Patients with type 0 SMA typically do not survive longer than 1 month after birth. Infants with type 1 SMA, which affects approximately 50% of SMA patients overall, typically show signs prior to 6 months of age and do not survive longer than 2 years. Patients with SMA type 2 typically survive into adulthood but are never ambulatory; those with type 3 show symptoms after 18 months and may walk independently but eventually require a wheelchair; and those with type 4 SMA develop proximal weakness in adulthood but remain ambulatory.

In recent years, several therapy options that can improve survival, reduce the need for ventilation, and facilitate better motor function and milestones for patients with SMA have become available. But these treatments hinge on early initiation to inhibit irreversible motor neuron damage and deliver maximal benefits. Therefore, diagnosing the most severe forms at birth or even prior to birth could improve outcomes for patients.

As the possibility of prenatal therapies emerges, it is also important to assess whether this populations historical interest in previous novel approaches also portends an interest in prenatal clinical trials, the authors wrote. Gathering stakeholder views can help inform conversations with regulatory authorities regarding trials for fetal therapies, and importantly, provide direction for future trials in considering their primary beneficiaries priorities and needs.

The study included 114 participants46 parents and 68 patientswho filled out a questionnaire designed by a multidisciplinary team and distributed by Care SMA. Most of the respondents were affected by types 2 and 3 SMA, and only 2 parents had received a prenatal diagnosis for their children. The median age at diagnosis was 15 months for patients who were diagnosed after birth. Of the patients, 63.3% received the antisense oligonucleotide nusinersen, 28.3% received gene therapy with zolgensma, and 14.7% received risdiplam or branaplan small molecule therapy.

Of the respondents who were affected by type 0 or 1 SMA, 80% strongly supported fetal testing and diagnosis, compared with 71.4% of respondents affected by SMA type 2 or 3. The majority of patients with SMA type 0 or 1 (77%) felt that their diagnoses were delayed, and 85% of those affected by SMA type 2 or 3 felt there had been a delay in their diagnoses.

Overall, 55% of respondents indicated that they would likely enroll in a phase 1 clinical trial for fetal antisense oligonucleotide therapy. Older respondents and those who felt their diagnosis was delayed were more likely to want to enroll in trials. If fetal antisense oligonucleotide or small molecule treatment becomes an established therapy, 78.9% of respondents would be likely to choose this route. Those who felt their diagnosis was delayed were more likely to choose a fetal therapy once they are established. Where fetal gene therapy is concerned, 61.1% of respondents overall indicated that they would be interested in enrolling in a phase 1 trial.

The survey results suggest that many patients affected by SMA and their parents have a positive attitude toward prenatal testing for SMA, and many would be interested in phase 1 trials of fetal therapies for SMA. This was especially true for respondents affected by more severe phenotypes of SMA. Respondents were even more likely to be interested if the therapies in question become established courses of treatment.

As the feasibility of phase 1 clinical trials for prenatal SMA therapies is explored, patient and parent input on relevant hypothetical situations is a valuable tool for guiding discussions. This is the first stakeholder survey involving prenatal SMA testing and therapy to the authors knowledge, and the results provide insight into how those most affected by SMA view fetal testing and potential prenatal therapies for SMA. In the future, further research can help determine the social factors that play into patients views on prenatal testing, trials, and therapies.

Reference

Schwab ME, Shao S, Zhang L, et al. Investigating attitudes towards prenatal diagnosis and fetal therapy for spinal muscular atrophy (SMA). Prenat Diagn. Published online August 27, 2022. doi:10.1002/pd.6228

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Patients and Parents Impacted by SMA May Be Optimistic About Prenatal Testing, Therapies - AJMC.com Managed Markets Network

The Pillars of Biopsychiatry

In a widely discussed July, 2022 analysis, psychiatrists Joanna Moncrieff, Mark Horowitz and colleagues reviewed numerous studies and found no consistent evidence of there being an association between [the neurotransmitter] serotonin and depression, and no support for the hypothesis that depression is caused by lowered serotonin activity or concentrations.

The response by supporters of mainstream psychiatry was at times marked by personal attack and distortion, and other times by statements from academic psychiatrists that Moncrieff et al. found nothing new, and that psychiatry has known for many years that serotonin levels are not associated with depression. Yet as Robert Whitaker showed, psychiatry continued to promote the serotonin chemical imbalance story after knowing it was wrong, and pharmaceutical companies, and academic psychiatriststold us a story that their own research had shown to be false, and they did so because it benefitted guild interests and the financial interests of pharmaceutical companies.

If psychiatrys serotonin and chemical imbalance pillars are now crumbling, the genetic predisposition (heritability) pillar remains in placefor now. In this article I review the evidence that psychiatry ceaselessly puts forward in support of the heritability of major depression (hereafter, MD). I will first describe MD genetic studies based on families, twins, and adoptees, and then finish with a more detailed critical evaluation of MD molecular genetic studies, which have failed to discover genes shown to cause MD. The genetics of depression story I will tell differs fundamentally from the story told in most textbooks, academic review articles, popular media accounts, and online sources.

The American Psychiatric Association sees MD as a genetically based serious medical illness, for which brain chemistry may contribute. Critics have challenged these claims, and some have questioned the validity and reliability of the MD diagnosis itself. Inter-rater reliability refers to the ability of psychiatrists to agree on a diagnosis. MD reliability is low (inter-rater reliability kappa = .25), and has been decreasing. A diagnosis must be reliable in order to be valid. If MD cannot be reliably identified, it cannot be a valid diagnosis. (Although reliability is a prerequisite for validity, a reliably identified condition must still be validated by other means.) Therefore, research based on a diagnosis of major depressive disorder or a similar condition begins on shaky ground.

Although mainstream outlets and the general public often get this important point wrong, most genetic researchers and their critics are in agreement that the results of MD family studies (depression running in the family) cannot be interpreted genetically, because family members share common environments as well as common genes. MD adoption studies have been carried out in an attempt to separate these influences, but their flaws led top psychiatric genetic researchers Jonathan Flint and Kenneth Kendler to conclude in 2014, Surprisingly, no high-quality adoption study of MD has been performed, so our evidence of the role of genetic factors in its etiology comes solely from twin studies.

A subsequent 2018 MD adoption study by Kendler and colleagues, based on Swedish adoptees and families, was subject to the problems and potential confounds that characterize psychiatric adoption research. These problem areas include adoption agencies typically selective and non-random adoption placements, late separation, late placement, range restriction and the screening of adoptive families for psychological and financial stability, and shared prenatal environment. It is likely that some adopted children experienced attachment-rupture trauma, emotional suffering, loneliness and neglect, and other adverse childhood conditions that can lead to psychological problems later in life.

Kendler and colleagues 2018 adoption study was based on the records of over 14,000 adult adoptees obtained from Swedish population registers. Children were placed in their adoptive homes up to five years of age (late placement, probable late separation). Diagnoses were taken from hospital and medical records found through the registers. The researchers concluded, The parent-offspring resemblance for treated MD arises from genetic factors and rearing experiences to an approximately equal extent. They calculated a modest 16% MD heritability estimate. However, the studys MD rate among adoptees was 50% higher than among people who grew up in intact families (15.6% vs. 10.2%), meaning that adoptees and non-adoptees constituted distinct populations in relation to MD. It follows that the studys findings cannot be applied (generalized) to people who grew up in intact families. Due to the above-mentioned problems related to both the Kendler study and psychiatric adoption studies in general (including the reliability/validity issue), like the earlier investigations the 2018 Kendler et al. adoption study results cannot be interpreted genetically.

If a genetic theory of behavior depends on twin study data, the theory is in serious trouble. Based on twin study results, biopsychiatry estimates MD heritability in the 30%-40% range. (I make a distinction between psychiatry and biopsychiatry, while being aware that biological and genetic approaches currently dominate psychiatry. The psychiatric genetics field is a major component of biopsychiatry.) Genetic theories in psychiatry are based on studies using reared-together twin pairs. Other than anecdotal reports on individual pairs, there are no reared-apart twin studies in psychiatry, even though psychiatric texts at times say that there are.

Psychiatric twin studies use the classical twin method, which compares the concordance rates or behavioral correlations of reared-together MZ (monozygotic, identical) versus reared-together same-sex DZ pairs (dizygotic, fraternal). MZ pairs are assumed to share 100% of their segregating genes, whereas DZ pairs are assumed to share on average 50%. The results of MD twin studies show that MZ pairs resemble each other more for MD compared with same-sex DZ pairs at a statistically significant level. I will designate this finding rMZ > rDZ (with r representing the behavioral correlation).

All sides of the genetics of depression debate expect a twin study finding of rMZ > rDZ. The main disagreement centers on how this expected-by-all finding should be interpreted.

Genetic interpretations of rMZ > rDZ require acceptance of the long-controversial MZ-DZ equal environment assumption, also known as the EEA. According to the EEA, MZ and same-sex DZ pairs grow up experiencing roughly equal environments, and the only behaviorally relevant factor distinguishing these pairs is their differing degree of genetic relationship to each other (100% vs. an average 50%). This key assumption is obviously false, however, since when compared with same-sex DZ pairs, MZ pairs grow up experiencing

Most modern twin researchers concede the point that MZ environments are more similar. For example, in a 2014 article by criminology twin researcher J. C. Barnes and colleagues, ironically written in defense of twin research, the authors properly recognized, Critics of twin research have correctly pointed out that MZ twins tend to have more environments in common relative to DZ twins, including parental treatmentcloseness with one anotherbelonging to the same peer networksbeing enrolled in the same classesand being dressed similarly.

Despite recognizing that MZ and DZ twin pairs grow up experiencing very different environments, twin researchers have used eight different arguments in support of the EEA. In my forthcoming book Schizophrenia and Genetics: The End of an Illusion (Routledge, 2023), I examine each of these eight arguments and show that none holds up (a partial examination of these arguments can be found here). Because the EEA is false, the results of a psychiatric twin study finding rMZ > rDZ can be explained by non-genetic factors. Decades of studies designed to test the EEA have failed to alter this basic conclusion.

In a 2000 MD review and meta-analysis based on twin study data, leading genetic researchers Patrick Sullivan, Michael C. Neale, and Kendler calculated a 37% MD heritability estimate based on the greater MZ versus DZ resemblance for depression. Sullivan and colleagues sensibly did not claim that MZ and DZ environments are equal, and like most authors of the six depression twin studies they analyzed, they sidestepped the twin methods unequal environments problem by defining the EEA in its trait-relevant form: The critical equal environment assumption, they wrote, posits that monozygotic and dizygotic twins are equally correlated in their exposure to environmental events of etiologic relevance to major depression (emphasis added).

A principle of science, however, is that the burden of proof falls on people making a claim, not on their critics. Therefore, MD twin researchers using this trait-relevant definition of the EEAand not their criticsare required to identify the specific and exclusive trait-relevant environmental factors involved in a diagnosis of major depression. Until this happens, and until they then determine that MZ and DZ pairs were similarly exposed (or not exposed) to these factors, the EEA as conceptualized by Sullivan and colleagues fails completely. Because the EEA is false, MD twin study and twin-study-based meta-analysis results cannot be interpreted genetically.

Biopsychiatry is confronted with another major predicament. It relies on the production and accuracy of heritability estimates (h2) that range from 0% to 100%, but these estimates are based on a string of questionable assumptions. One of these assumptions is the long-disputed idea that genetic and environmental factors are independent from each other (additive) and do not interact. In a 2022 analysis, sociologist NicolasRobette and colleagues examined the assumptions that heritability estimates are based upon, and concluded, None of the hypotheses inherent in heritability estimates are verified in humans. This is a strong statement that, if true, should lead to the abandonment of heritability estimates in psychiatry and other behavioral science fields.

The heritability concept was developed in the 1930s as a tool to help predict the results of selective breeding programs of farm animals, such as milk production in cows. Since the 1960s, h2 has been extended by behavioral researchers and others into a measure of the relative importance of genetic and environmental influences on various psychiatric conditions, and behavioral characteristics such as IQ and personality. Critics generally object to h2 being used in this way, in part because nature and nurture influences interact with each other, meaning that it is not possible to separate and partition these influences. This leads to a rejection of variance explained by descriptions of the causes of psychiatric conditions.

Heritability estimates do not indicate the strength or weakness of potential genetic influences, or imply anything about changeability. Psychologist David Moore and David Shenkwrotein The Heritability Fallacy that the term heritability, as it is used today in human behavioral genetics, is one of the most misleading in the history of science. A strong statement that may well be true.

Like other psychiatric diagnoses, the decision to perform major depression molecular genetic research was based on the belief that earlier family, twin, and adoption studies produced indisputable evidence in favor of substantial heritability. This is the fundamental error of MD gene-finding strategies. Because family, twin, and adoption studies have failed to provide such evidence, there is no good reason to assume that genes for depression even exist. Future historians may well conclude that the search for non-existent genes was a scientific folly of epic proportions.

When assessing MD gene discovery claims, we should keep these additional points in mind.

The three main (at times overlapping) eras of psychiatric molecular genetic research, which dates back to the 1960s, have been the linkage, candidate gene association, and the current GWAS/PRS eras (genome-wide association study/polygenic risk score). Another area of research focuses on potential rare risk variants such as copy number variants, or CNVs. Although claims of CNV-MD gene associations have appeared in recent years, I will focus on molecular genetic studies using the candidate gene, GWAS, and PRS approaches.

Psychiatric candidate gene researchers generate hypotheses about a diagnosis, and then identify candidate genes that might play a role in causing it. Genes become MD candidates based on their role in influencing brain functions believed to be related to the diagnosis. Flint and Kendler reported that as of 2013, more than 1,500 MD candidate gene association studies had been published, and almost 200 genes had been tested. Similar to the linkage era, however, the candidate gene era in the behavioral sciences is now widely recognized to have been, as leading behavioral genetic researcher Robert Plomin conceded in 2018, a flop.

In a 2019 analysis appearing in the American Journal of Psychiatry, behavioral geneticists Richard Border, Matthew Keller and colleagues concluded that findings from the MD candidate gene era are likely to be false positives:

The study results do not support previous depression candidate gene findings, in which large genetic effects are frequently reported in samples orders of magnitude smaller than those examined here. Instead, the results suggest that early hypotheses about depression candidate genes were incorrect and that the large number of associations reported in the depression candidate gene literature are likely to be false positives.

In a subsequent interview, Keller asked, How on Earth could we have spent 20 years and hundreds of millions of dollars studying pure noise? A similar question could be asked in relation to schizophrenia candidate gene research.

An example of earlier candidate gene era excitement is found in a 2009 academic journal article entitled The Role of Serotonin in the Pathophysiology of Depression: As Important as Ever. In this publication psychiatrist Charles Nemeroff and Michael Owens reviewed and updated their 1994 citation classic article describing what they believed was a big serotonin gene discovery: One of the most exciting findings is the importance of SERT [serotonin transporter] polymorphisms [gene variants] in vulnerability to depression, and the interaction of this genetic marker with environmental factors. Both authors reported paid advisory roles with and research funding from several drug companies, and Nemeroff reported stock ownership in six related companies. At the height of the candidate gene era an article appeared in a major mass media outlet wondering out loud whether people with depression are morally obligated to forgo bearing children in order to avoid passing on their bad genes. The genetic predisposition and serotonin theories of MD have been linked for many years.

Psychologist Stuart Ritchie recalled in 2020 that when he was an undergraduate student between 2005 and 2009, candidate gene studies were the subject of intense and excited discussion. By the time I got my PhD in early 2014, they were almost entirely discredited. For Ritchie, who otherwise strongly supports behavioral genetic research and theories, reading through the candidate gene literature is, in hindsight, a surreal experience: they were building a massive edifice of detailed studies on foundations that we now know to be completely false.

The Most Famous Candidate Gene-Environment Link of Them All. A highly publicized MD-candidate-gene link was put forward in a widely cited 2003 study by Avshalom Caspi and colleagues (according to Google Scholar, cited over 10,400 times as of August, 2022, or about 550 citations per year over 19 years), who concluded that people experiencing stressful life events are more likely to be diagnosed with depression if they carried 5-HTTLPR, a variant genetic sequence within the SLC6A4 gene that encodes a protein that transports serotonin within neuronal cells. For many people, the Caspi study provided a sensible explanation for the causes of depression, where life events and genetic predisposition combined to explain why some people become depressed, while others do not. However, despite the publication of at least 450 research papers about this genetic variant, by 2018 or so it was clear that the 5-HTTLPR depression theory did not hold up.

The rise and fall of the 5-HTTLPR-depression link was described in psychiatric drug researcher Derek Lowes aptly-titled 2019 Science article, There Is No Depression Gene. The depression candidate gene literature, he wrote, turned out to be all noise, all false positives, all junk. A 2019 online article by a psychiatrist using the pen-name Scott Alexander documented years of subsequently unsubstantiated 5-HTTLPR-depression claims in the scientific literature, and how the media popularized these claims by calling 5-HTTLPR and a few similar variants orchid genes, because orchids are sensitive to stress but will bloom beautifully under the right conditions. Who could say a bad word about orchids? Alexander summed up the 5-HTTLPR debacle as follows:

First, what bothers me isnt just that people said 5-HTTLPR mattered and it didnt. Its that we built whole imaginary edifices, whole castles in the air on top of this idea of 5-HTTLPR mattering. We figured out how 5-HTTLPR exerted its effects, what parts of the brain it was active in, what sorts of things it interacted with, how its effects were enhanced or suppressed by the effects of other imaginary depression genes. This isnt just an explorer coming back from the Orient and claiming there are unicorns there. Its the explorer describing the life cycle of unicorns, what unicorns eat, all the different subspecies of unicorn, which cuts of unicorn meat are tastiest, and a blow-by-blow account of a wrestling match between unicorns and Bigfoot.

So ends the sorry and expensive MD candidate gene story. Despite the expenditure of hundreds of millions of dollars on the depression studies alone, and despite genetic researchers sincere and admirable desire to prevent and alleviate human suffering, the behavioral science candidate gene era turned out to be, in the words of our planets top behavioral geneticist, a flop.

Given the failure of family studies, twin studies, adoption studies, linkage studies, candidate gene studies, and rare variant studies to produce scientifically acceptable evidence that disordered genes play a role in causing MD, supposedly hypothesis-free GWAS/PRS research has become the last hiding place of potential MD heritability. GWAS researchers attempt to identify single-nucleotide polymorphisms or SNPs(pronounced snips by those in the field).These variants, numbering in the millions and curated in an ever-growing digital catalogue available to researchers, are considered common minority variants of genes present in at least 1% of the population. Because multiple comparisons are made, the GWAS significance threshold is very high, usually 5 108. A PRS study combines statistically significant and non-significant individual SNP hits to produce a polygenic (composite) risk score. Polygenic risk scores have been described as constructed as a weighted sum of risk allele counts using effect sizes estimated from GWAS as the weights. They are expressed as a percentage.

As GWAS pioneer Jonathan Flint, Ralph Greenspan, and Kendler repeatedly stressed in their 2020 book How Genes Influence Behavior (2nd ed.), A GWAS does not find association with a gene. A GWAS finds associations with a locus, which is a geneticists term for placea place in the genome where the genetic variant is found.If the variant found by a GWAS altered a coding region, as was initially hoped, then it would be straightforward to say which genes were involved in the trait under investigation. But GWAS hits turned out not to be coding for SNPs.

To repeat: A GWAS does not identify causative genes, and a gene association points to a correlation or to a chance finding, not to a cause. The classic example of a correlation not implying cause is that if red-haired people in a given society are persecuted, and for this reason alone many red-haired people suffer from depression, this indicates only that genes for red hair are associated with depression, not that they cause depression.

In 2014, Flint and Kendler recognized the failure of the nine GWASes published up to that time. Since then, a few studies have produced GWAS SNP hits that psychiatry and the media now put forward as solid MD gene associations. However, psychiatric GWAS/PRS studies have been the subject of controversy for several reasons. I will mention a few of the problem areas.

Associated With Caused By. As we saw, a GWAS identifies regions of the genome (hits) associated with a condition. It does not identify genes that cause it, and associated with does not mean caused by.

Population Stratification Confounds. GWAS/PRS findings are subject to the confounding influence of population stratification (pop strat), which can lead to spurious findings (explained here, here, here, and here). Briefly, population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry, rather than association of genes with disease. No generally accepted remedy for pop strat has been found, although many have been proposed and attempted.

Dependence on Heritability Estimates. Heritability estimates both justify and guide a GWAS. Researchers assume that heritability estimates are important and roughly accurate, and that MD heritability is in the 30%-40% range. If a heritability estimate is inflated due to systematic bias, or if heritability estimates are meaningless in and of themselves (apart from their original purpose of helping predict the results of a selective breeding program), attempts to find causative genes will end up as expensive failures.

A Scientific Fishing Expedition? By definition, a scientific fishing expedition is a hypothesis-free method, where researchers base their conclusions on significant correlations that in the GWAS context pop up on a Manhattan Plot. According to an author writing in a clinical psychiatry publication, The termfishing expeditionis used to describe what researchers do when they indiscriminately examine associations between different combinations of variables not with the intention of testing a priori hypotheses but with the hope of finding something that is statistically significant in the data. It could be argued that a GWAS is a type of fishing expedition, or even more, a massive gene-trawling juggernaut hauling in as much variation as possible. In 2016, behavioral geneticist Eric Turkheimer referred to the GWAS method as unapologetic, high-tech p-hacking.

Conflicts of Interest. Potential conflicts of interest exist when research, researchers, and institutions are funded by companies that profit from the promotion of biological and genetic explanations of depression. A large-sample GWAS claiming 178 significant loci-associations for MD, including replication of the findings in an independent sample, was published in 2021. Yale Universitys Daniel Levey was the lead author, and the corresponding author was psychiatric researcher Murray B. Stein. Dr. Steins competing interests statement read (I marked companies that develop antidepressant drugs with an asterisk), M.B.S. reports receiving consulting fees in the past 3 years from Acadia Pharmaceuticals*, Aptinyx*, Bionomics*, BioXcel Therapeutics*, Boehringer Ingelheim, Clexio Biosciences*, EmpowerPharm, Engrail Therapeutics*, Genentech/Roche, GW Pharmaceuticals, Janssen*, Jazz Pharmaceuticals and Oxeia Biopharmaceuticals. The annual consulting fee income Dr. Stein received was not disclosed. The article said that he and a co-author secured funding for this project. The direct-to-consumer genetic testing company 23andMe played a significant role in this study, a company that stood to profit from the discovery of relevant MD genes. There is a symbiotic relationship between psychiatry, biopsychiatry, direct-to-consumer genetic testing companies, and the drug companies. All have a vital and mutual interest in convincing the public that psychiatric conditions are real brain-based diseases rooted in genetics, in need of medication like other diseases. As Robert Whitaker and others have shown, all share in the profits.

Other Unlikely GWAS Findings. The GWAS method has produced some questionable and even humorous findings. These include significant hits for behavioral characteristics that include getting concussions, self-reported childhood maltreatment, crying habits, female sexual dysfunction, food liking, household income, ice cream flavor preferences, loneliness, being a morning person, musical beat synchronization, regular attendance at a sports club, pub, or religious group, and white wine liking. Results of this type are obvious GWAS red flags, just as they were during the failed candidate gene era.

Polygenic Risk Score Cautions and Warnings. In an interview, veteran psychiatric genetic researcher Elliot Gershon described PRS as sort of a mindless score, and that you cant really tell anything from the polygenic risk factor. In a detailed analysis, sociologist/criminologist Callie Burt described several potential PRS environmental confounds, and concluded that scores should be used sparingly and cautiously with caveats placed front and center. Historian of science Nathaniel Comfort warned that polygenic risk scores are in no sense causal. A group of genetic researchers concluded that polygenic scores are computed under erroneous assumptions. Medical researcher Keith Baverstock called polygenic risk scores a dangerous delusion.

Science is in the midst of a replication crisis (also known as the reproducibility crisis), meaning a crisis brought about by the discovery that some key findings across various scientific fields were probably non-findings resulting from research that was poorly performed, manipulated to match confirmation biases or funding source expectations, or even fraudulent. The traditional scientific research and publication process makes it possible for researchers to change various aspects of their study after reviewing their data, but before submitting their paper for peer review and publication. Science writer Ed Yong wrote a 2019 Atlantic article about how confirmation biases may have played a role in prolonging what Lowe called the all noise, all false positives, all junk MD candidate gene era:

Many fields of science, frompsychologytocancer biology, have been dealing with similar problems: Entire lines of research may be based on faulty results. The reasons for this so-called reproducibility crisis are manifold. Sometimes, researchersfutz with their datauntil they get something interesting, orretrofit their questionsto match their answers. Other times, they selectively publish positive results while sweeping negative ones under the rug, creating a false impression of building evidence.

Such practices have led to increasing calls for research preregistration, where investigators would have the option or be required to submit their research rationale, hypotheses, design and analytic strategy, and planned data-collection stop point to a journal for peer review before they collect and analyze their data. Although we may never be able to eliminate bias altogether, wrote cognitive neuroscientist Chris Chambers, a sure way to immunize ourselves against its consequencesis peer-reviewed study preregistration.

Yong saw the problems that led to the downfall of depression candidate gene research as characteristic ofan academic world that rewards scientistsfor publishing papers in high-profile journalsjournals that prefer flashy studies that make new discoveries over duller ones that check existing work. Researchers are rewarded for beingproductiverather than beingright, for building ever upward instead of checking the foundations. (The validity of twin studies question is an example of a foundation that molecular genetic researchers rarely check.) After enough (albeit weak) studies are published, according to Yong they create a collective perception of strength that can be hard to pierce. Hard to pierce, that is, until the entire false-positive structure comes crashing down.

Most likely, Stuart Ritchies 2020 evaluation of the behavioral candidate gene era will be the eventual evaluation of the behavioral and psychiatric GWAS/PRS era as well (emphasis added): They were building a massive edifice of detailed studies on foundations that we now know to be completely false.

I have shown that family, twin, adoption, and molecular genetic studies have failed to provide scientifically valid evidence that genes play a role in causing depression. Combined with the recent findings by Moncrieff and colleagues that serotonin is not associated with depression, the idea of MD as a medical condition is in serious trouble.

To understand the true causes of depression, we must focus on family (including abuse and trauma), social, and political environments, including racial, gender, class, and other types of oppression/discrimination. We must address peoples increasing social isolation and disconnection from each other, lack of meaning and purpose, consumerism, and fears of present or future calamities such as pandemics, climate change, and nuclear war. The idea of depression as a medical/genetic condition must be reevaluated, and non-medical prevention and intervention strategies should be promoted. This is the approach of the Power Threat Meaning Framework (PTMF), developed by psychologists Lucy Johnstone, Mary Boyle, and others. In a 2020 introductory book, the authors described the Frameworks overall message as follows:

All forms of adversity and distress are more common in social contexts of inequality and other forms of deprivation, discrimination, marginalisation and injustice. This evidence does not support the individualisation of distress, either medically or psychologically. Instead, it implies the need for action, primarily through social policy, at the earliest possible point, before the destructive and self-perpetuating cycles are set in motion.

Psychiatry sees a depressed person and asks, What is wrong with you? The PTMF asks, as do most psychotherapists, What happened to you? Given the lack of evidence, terms such as serotonin, chemical imbalance, brain disease, genetic predisposition, genes, and heritability should not be found in the answer to either of these questions. As James Davies wrote, the medical model describes suffering as being rooted in individual rather than social causes, leading individuals to think that it is them rather than the economic and social system in which they live that is at fault and in need of reform.

Psychiatrys longstanding major depression chemical imbalance and brain disease claims used to support the medical model are now crumbling. The longstanding and related depression as a heritable disorder claim awaits its turn.

***

Mad in America hosts blogs by a diverse group of writers. These posts are designed to serve as a public forum for a discussionbroadly speakingof psychiatry and its treatments. The opinions expressed are the writers own.

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Major Depression: The Chemical Imbalance Pillar Is CrumblingIs the Genetics Pillar Next? - Mad In America - Mad in America

Diagnostics and research startup MedGenome announced on Tuesday it raised $50 million led by life science-focused Novo Holdings, bringing total funding to $185.5 million.

MedGenome, a California-based startup, leverages genomic sequencing platforms to aid in diagnostics and drug discovery.

Most notably, the 9-year-old startup also collects samples from patients in and around the Indian subcontinent to better map out variations in genetic sequencing among the South Asian population. Leveraging a network of over 4,000 hospitals and 10,000 doctors around the world, MedGenome has distributed over 300,000 genetic tests. The company says it has built the largest database of South Asian genetic variants.

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The fresh funding will launch the company out of South Asia and into Africa and the Middle East.

Breakthroughs and discovery are only as successful as the data on which theyre based, said Dr. Felix Olale, global co-lead for health care investments at LeapFrog Investments in a statement, MedGenomes mission to expand the global genomic dataset to aid in the development of more inclusive and equitable research and drug discovery is not only inspiring, but critical to the future of global healthcare.

Scientists envision a genomic sequencing utopia where enough data exists to predict if an otherwise-healthy person is at risk for diseases, allowing patients to receive preventative care early on. Several countries leveraged genomic sequencing to map out COVID-19 outbreaks down to the very person that hosted a new variant.

But the vast majority of genetic testing happens in high-income countries such as those in Europe and North America, leaving a large slice of the population untested. This is dangerous: Any research or patterns derived from a Europe-heavy dataset skews what treatment looks like for everyone.

Genomic sequencing technology is what allowed scientists to create a vaccine against COVID-19 without ever having a sample of it. The technology partially led genomics startups to receive a record $2.3 million in venture funding in 2021, according to Crunchbase data.

Illustration: Dom Guzman

Stay up to date with recent funding rounds, acquisitions, and more with the Crunchbase Daily.

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MedGenome Raises $50M To Map The Human Genome - Crunchbase News

Are you also struggling to conceive after months of unprotected sex? If you are planning to look for fertility treatments, let us tell you two most common treatments which leave people confused. These are In vitro fertilization (IVF) and Intrauterine insemination (IUI). So, how to decide whether to go for IUI or IVF? What are the risks involved with both processes? Come, lets get answers.

IUI is a fairly simple treatment usually carried out in combination with fertility drugs. The procedure begins with monitoring a womans menstrual cycle under ultrasound to rule out the presence of ovarian cysts that could interfere with ovulation. When you are ready to ovulate, highly motile sperm from your partner or donor is washed and concentrated, and placed into your uterus. You might be the right candidate for IUI if you are suffering from unexplained fertility when no cause can be found for your infertility or in the case of male infertility wherein your partner either has a low sperm count or low motility.

IUI being less invasive and less expensive could be your first reasonable option if you have time on your side and are free of any factors that prevent you from trying it. Besides, it requires fewer medications and even none at all in some cases.

It may be useful for people who have ejaculation disorder and are unable to have intercourse either due to stress or psychological issues around the time of formulation.

The IVF process has higher chances of success when doctors can attempt fertilization on a larger number of eggs, for which, a female patient is typically placed on ovary-stimulating medications to make her body produce multiple eggs in one cycle. The eggs are retrieved from the patients ovaries when they are sufficiently mature and combined with the sperm from the semen sample followed by careful observation by an embryologist for about five days.

Also, read: Keep your calm during fertility treatment with these 5 tips

The embryos formed by using this procedure can either be transferred back to the uterus in hopes of conception or frozen for use in a later pregnancy attempt.

IVF may be a good option if you have blocked fallopian tubes, are suffering from endometriosis, unexplained infertility, decreased ovarian reserve, or have male infertility issues. On the other hand, it might not be a viable option for women suffering from ovarian dysfunction, uterine abnormalities, fibroid tumors, or abnormal hormone levels.

Some of the risks associated with IVF include multiple births, especially if more than one embryo is placed into your uterus, premature delivery and low birth weight, ovarian hyperstimulation syndrome, ectopic pregnancy, etc.

Intracytoplasmic sperm injection (ICSI) is one major reason that makes IVF more successful for those with severe male factor disease in comparison to IUI-IntraUterine Insemination. The process makes use of a single sperm injected directly into an egg (as opposed to a normal IVF cycle without ICSI that allows normal mixing in a laboratory dish followed by natural fertilization).

Also, read: You must focus on self-care while undergoing fertility treatment. An expert explains why

IVF in combination with ICSI offers hope to those with very low sperm count, sperm with difficulty moving or penetrating the egg due to its shape or structure or sperm extracted directly from the testicles.

Genetic testing of embryos that are created in the lab is another major benefit of IVF vs IUI. This allows testing of general genetic health of embryos like specific single-gene disorders, such as cystic fibrosis, ensuring they have the proper number of chromosomes and more.

The chance of having multiples such as twins, triplets, and more is considered to be the result of IVF, contrary to the belief, it is more common with a medicated IUI cycle (especially that makes use of injectables), because doctors have less control over how many eggs are released and fertilized.

The chances of success vary for every patient depending on their diagnosis, age, medical history, etc. However, IVF has significantly higher success rates and though it is more expensive, it may be worthwhile for some patients.

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IVF or IUI: Which one to choose for a fertility treatment? - Health shots

Visiongain Reports Ltd

Visiongain has published a new report entitled Molecular Diagnostics Market 2022-2032. It includes profiles of Molecular Diagnostics Market and Forecasts Market Segment by Market Segment by Type (Testing service provider, Diagnostic Manufacturers, OEM & Software Providers), Market Segment by Application (Infectious Disease Diagnostics {COVID-19, Hepatitis, HIV, CT/NG, HAI, HPV, Tuberculosis, Influenza & Others}, Oncology Testing, Genetic Tests and Others), Market Segment by End User (Diagnostic Laboratories, Hospitals and Clinics, Other End Users) plus COVID-19 Impact Analysis and Recovery Pattern Analysis (V-shaped, W-shaped, U-shaped, L-shaped), Profiles of Leading Companies, Region and Country.

The global molecular diagnostics market was valued at US$23,498.2 million in 2022 and is projected to grow at a CAGR of 7.28% during the forecast period 2022-2032.

New Product launches and Enhanced Utilization of BiomarkersIncreasing biomarker applications, new product launches by market players in response to increased government initiatives, increased demand for molecular diagnostic tests, and increased adoption of inorganic growth strategies such as mergers, acquisitions, partnerships, and collaborations by key market players are the major factors expected to drive growth in the U.S., Europe, and Asia Pacific molecular diagnostics markets. The expansion of the molecular diagnostics market is expected to increase research and development for biomarker identification, resulting in the development of new molecular diagnostic tests. For example, the FDA (Food and Drug Administration) granted authorization to Banyan Biomarkers, Inc., a biotech company, in February 2018 for traumatic brain injury, for the first diagnostic blood test. Molecular diagnostics provides precise and effective results and has critical applications in disease diagnosis. However, one of the major factors impeding market growth is the high cost of molecular tests.

Download Exclusive Sample of Report:

Molecular Diagnostics (MDx) Market Report 2022-2032

How has COVID-19 had a significant positive impact on the Molecular Diagnostics Market?

Recent outbreak of COVID-19 impelled the diagnostics industry into quick action, with an emergence to produce novel and rapid diagnostics kits for covid-19 detection. The pandemic led to a spike in the revenue of companies operating in the Software Providers segment. For instance, in April 2021, a 59% rise in revenue was reported by Thermo Fisher Scientific, owing to the diagnostics division that delivered 150% growth. However, with significant number of vaccinations on a global scale, the demand for molecular diagnostics for COVID-19 testing is set to decline in the years to come.

COVID-19 is more common in the elderly population due to decreased immune function, multimorbidity, and physiological changes associated with ageing. The rising geriatric population globally is increasing the risk of getting numerous diseases including obesity, neurological disorders, and diabetes. As per a UN report, in 2020, there were about 727 million people aged 65 years & above globally. Furthermore, the number of people aged 80 and up is expected to double by 2050, reaching more than 1.5 billion. The fact that the global geriatric population is expected to grow over the forecast period is expected to be a significant market driving factor.

How will this Report Benefit you?

Visiongains 236-page report provides 106 tables and 173 charts/graphs. Our new study is suitable for anyone requiring commercial, in-depth analyses for the global vaccine contract manufacturing market, along with detailed segment analysis in the market. Our new study will help you evaluate the overall global and regional market for Molecular Diagnostics Market. Get financial analysis of the overall market and different segments including type, application and end user, and company size and capture higher market share. We believe that there are strong opportunities in this fast-growing vaccine contract manufacturing market. See how to use the existing and upcoming opportunities in this market to gain revenue benefits in the near future. Moreover, the report will help you to improve your strategic decision-making, allowing you to frame growth strategies, reinforce the analysis of other market players, and maximise the productivity of the company.

What are the Current Market Drivers?

Recent Advancements in PCR and real time PCR Molecular DiagnosticsPolymerase chain reaction (PCR) molecular diagnostics have seen a significant increase in popularity in recent years. PCR tests are extremely effective at detecting pathogenic DNA for a variety of infectious diseases. Attempts are being made to broaden the scope of PCR and RT-PCR tests in order to find treatments for life-threatening diseases.

The COVID-19 pandemic has increased the market for PCR and real-time PCR molecular diagnostics. Real-time (qPCR) and digital (dPCR) PCR tests have been used to detect and diagnose potential cases in a variety of healthcare settings. PCR tests have been widely used by healthcare providers due to their high sensitivity. As a result of these trends, the global PCR and real-time PCR molecular diagnostics market is expected to soar to new heights, surpassing an already impressive revenue. Real-time PCR tests are likely to remain profitable due to their higher sensitivity, timely processing of test results, greater precision, and lower proneness to contamination, thereby limiting error margins. The use of RT-PCR tests has increased significantly in the aftermath of the COVID-19 pandemic. Similarly, as smart technology becomes more prevalent in the healthcare sector, digital PCR tests are gaining traction. Calibration against standards is not required for digital PCR tests, which is important for RT-PCR tests. Furthermore, dPCR tests can detect more samples than traditional PCR tests.

Because of the high prevalence of sexually transmitted infections, respiratory infections, and hepatitis C and B, testing for infectious diseases is expected to grow rapidly. Following the COVID-19 pandemic, the PCR and real-time PCR molecular diagnostics market is expected to gain tremendous traction

Rising Outbreaks of Viral and Bacterial Pandemic Globally

The molecular diagnostics market is currently gaining traction due to the fact that molecular tests are routinely used for the diagnosis of cancer and other infectious diseases. The rise in demand for Molecular Diagnostics is primarily due to the increasing prevalence of infectious diseases, such as the recent COVID-19 outbreak and the rising global burden of cancers, Lyme diseases, and others. Furthermore, other factors such as technological advancements and rapid product approvals in the Molecular Diagnostics product arena are expected to drive the Molecular Diagnostics market. Furthermore, product approval for the detection and differentiation of HIV infection for personalised HIV management will boost the molecular diagnostics market.

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Molecular Diagnostics (MDx) Market Report 2022-2032

Where are the Market Opportunities?

Expanding Technological Advancements in Precision MedicineOn a global scale, medicine is understood differently, and this scenario is changing dramatically as healthcare moves toward precision medicine; it will no longer take a one-size-fits-all approach, but rather one that is more targeted and based on each patient's individual clinical, molecular, and lifestyle data. Key players are widely collaborating with the precision medicine community to advance in molecular diagnosis and treatment by leveraging the global infrastructure and knowledge to deliver industry-leading capabilities ranging from population profiling to targeted therapeutics.

The widespread use of precision medicine will usher in a new era in healthcare and diagnostics in which patients will receive the care they require, particularly for life-threatening conditions. Precision oncology, which makes use of next-generation sequencing (NGS) technology to speed up the selection process.

Competitive LandscapeThe major players operating in the molecular diagnostics market are Abbott Laboratories Inc, F. Hoffmann-La Roche Ltd., Hologic Inc., Qiagen N.V., Becton, Dickinson and Company, Cepheid, Siemens Medical Solutions Inc., Danaher Corp., Agilent Technologies Inc., Exact Sciences Corp, Abacus Diagnostica Oy [Uniogen], PerkinElmer, Inc., bioMrieux SA, Thermo Fisher Scientific. These major players operating in this market have adopted various strategies comprising M&A, investment in R&D, collaborations, partnerships, regional business expansion, and new product launch.

Recent Developments

In May 2021, Roche acquired GenMark Diagnostics for a sum of USD 1.8 billion. This acquisition will aid in the expansion of Roche's molecular diagnostics portfolio. Furthermore, the company completed the acquisition of TIB Molbiol Group in December 2021. TIB Molbiol Group has approximately 45 CE-IVD approved assays for infectious disease diagnosis, inherited genetic testing, transplant medicine, and haematology testing.

In June 2021, Hologic, Inc. (US) completed the acquisition of Mobidiag Oy (Finland) which is an innovator in acute care molecular diagnostic testing. This strategy will help the company in expanding its molecular diagnostics product portfolio.

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About Visiongain

Visiongain is one of the fastest-growing and most innovative independent market intelligence providers around, the company publishes hundreds of market research reports which it adds to its extensive portfolio each year. These reports offer in-depth analysis across 18 industries worldwide. The reports, which cover 10-year forecasts, are hundreds of pages long, with in-depth market analysis and valuable competitive intelligence data. Visiongain works across a range of vertical markets with a lot of synergies. These markets include automotive, aviation, chemicals, cyber, defence, energy, food & drink, materials, packaging, pharmaceutical and utilities sectors. Our customised and syndicatedmarket research reportsoffer a bespoke piece of market intelligence customised to your very own business needs.

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Global Molecular Diagnostics Market is projected to grow at a CAGR of 7.28% by 2032: Visiongain Reports Ltd - Yahoo Finance