Archive for the ‘Genetic Testing’ Category

Courtesy Jen B.

In 2012, Bev Michel found a large lump in her breast. This discovery started a medical odyssey that led to a cancer diagnosis and ultimately unraveled the mystery of a variety of health issues that had plagued her for more than eight years.

Following up on the lump with a mammogram and biopsy, Michel got the startling news that she had cancer. The West Chester, Pennsylvania resident immediately jumped into a chemotherapy regimen, undergoing six sessions of chemo and two lumpectomiesonly to find later after genetic testing that her type of cancer, lobular breast cancer, doesn't respond to chemotherapy. She then requested and underwent a double mastectomy, hoping to ensure the cancer was gone for good. But the cancer recurred in 2016near the nodes. So she again had surgery, this time to remove lymph nodes that she later learned were benign.

Michel felt there had to be more to her troubles, and she went to her general practitioner for guidance. "I told her how I was always tired, and how much my joints ached," Michel recalls. "She ran a couple of blood tests, and when she received the results she didn't believe them. She said my iron levels were sky-high, so she retested them. They were even higher." Michel's doctor diagnosed her with hemochromatosis, a metabolic disorder that leads to abnormally high iron levels in the body.

The mineral deposits itself into organs like the heart, liver, and pancreas, and in the joints; it can raise the risk of cancer and other diseases. A normal human absorbs about 8 to 10 percent of the iron they get from their diet; people with hemochromatosis absorb four times as much. The condition is inherited, and people with northern European ancestry have an elevated risk, according to the Genetics Home Reference. Experts estimate that 16 million Americans have elevated iron levels. Michel's diagnosis helped shed light on her family's medical history. "My mom died of breast cancer, had macular degeneration, and heart issueswhich are all signs of the disorder. When I had genetic testing, my results showed that both of my parents had the gene mutation, so of course, I would, too." (Here, doctors reveal the rarest conditions they've ever diagnosed.)

About one in 227 of people of Northern European descent have the condition, and about 10% of white people in the U.S. are carriers, according to National Organization for Rare Disorders. That means they have one copy of the gene mutation that causes hemochromatosis. You need to inherit two copies of the gene, one from each parent, to have the condition, although not everyone with both genes develops it. It's most often diagnosed in men after age 40 and in women after 60, in the postmenopausal years. While it's one of the most common genetic diseases in the U.S., it's less common in African Americans, and people who are of Hispanic, Asian, or Native American descent.

Michel was told she would need to donate blood every few weeks for the rest of her life, as giving blood regularly helps reduce iron levels. The prospect of this sent her to the internet to research other possible treatments. "What I found was that high iron is correlated to cancer, and I'm convinced it's what caused cancer for both my mom and me," she says."I found a doctor at the University of Maryland, Abulkalam M. Shamsuddin, MB, BS, PhD, who had studied the use of something called IP6 for treatment of cancer and iron overload." IP6 stands for inositol hexaphosphate: It's basically a carbohydrate substance that behaves like a vitamin, and it binds with extra iron in the body, explains Michael. "Once I began taking it, I haven't had a blood draw in two years, and my cancer has not recurred. My doctors are amazed."

Through her journey, Michel has found a passion for educating others about this relatively common yet underdiagnosed disorder. "I think there needs to be more open-mindedness among the medical community regarding treatments for conditions like this. Instead of treating only symptoms, look for the cause," she says.

If you have suspicious symptoms and you're not finding answers, Michel advises you be direct: "Ask to be tested for hemochromatosis. It's not an expensive test. If you have cancer, look for a possible correlation to your iron levels. If you test positive, then consider genetic testing for your children's sake. If you have it, they might, too."

Don't miss the 50 everyday habits that reduce your risk of breast cancer.

Gallery: 50 everyday habits that can reduce your risk of breast cancer

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My 'Tiredness' Turned Out to Be a Genetic Condition That Raises Cancer Risk - msnNOW

PORTLAND, Maine Kenzie Dickinson is a 5-year-old spitfire. Her favorite things are animals, Minnie Mouse, the Spice Girls, and sports.

She loves baseball. She's a huge Slugger fan Kenzies parents Kevin and Cyndi Dickinson said.

She also loves to make people laugh.

She'll yank her sock off and stick it in her mouth and wait for you to notice and start laughing," Cyndi said.

When Kenzie turned one year old her parents thought something wasnt right. She wasnt hitting her milestones.

We went through a litany of what they thought it was which it wasnt, Rett Syndrome, Cerebral Palsy. They went through round after round trying to eliminate the possibilities until finally it was 'were coming up empty,' Kevin said.

Kenzies parents decided to try genetic testing. They both supplied DNA samples, including Kenzies and doctors were finally able to narrow it down.

"We've isolated this gene that doesn't have a name other than the name of the gene itself, Kevin said.

VPS13D disorder is so rare Kevin says, only 19 people in the world have it.

Because of the disorder, Kenzie has experienced growth delays. She can't walk and struggles with speech and seizures. She also suffers from several conditions, like Spasticity, Dystonia, and Chorea that cause her muscles to contract uncontrollably, leading to extreme tightness in her arms and legs and keeps her entire body in constant motion.

"Her arms are constantly moving so when she tries to do a task she has to really work at it to get it. And those constant movements have been burning calories off," Kevin said.

For two years Kenzie's weight stayed at 25 pounds, but thanks to a feeding tube she is now up to 32 pounds.

She also takes nine different medications and regularly sees a team of six specialists in Boston. Doctors who can provide few answers for Kenzie's parents.

"We don't have an idea of life expectancy. Life span, is it affected? We imagine it is," Kevin said.

Today though, Kenzie is making great strides. She attends Pre-K, can crawl, and is learning sign language.

Like most parents, Kenzie's mom and dad just want their youngest daughter to be happy and to be able to experience as much joy as she can.

"I love her the way she is and I just want to be able to provide for her the best life I can," Kevin said.

"I want her to be able to do as much as possible, get out as much as possible because we don't know," Cyndi said.

This family's priority, after all the hospital visits are done, is simply spending quality time together.

You will literally see her vibrating, her whole body is shaking, she just is so happy and excited," Kevin said.

And Kenzie is all about sharing that love.

Cyndi says, "you have to remind her that not everyone wants a hug because she'll try to hug strangers."

All the trips to Boston Children's Hospital have taken a toll on the family's car. It broke down last week.

As Kenzie continues to grow and gain weight the Dickinsons are hoping to be able to purchase a wheelchair accessible van to make their travels easier.

A fundraiser for Kenzie and her family is being held Friday, Jan. 31 at the Portland Elks Lodge to help raise money for the Dickinson Family. There will be a cash bar, appetizers, and music provided by DJ Jim Fahey. There is no cost to attend, however donations will be accepted at the door.

There is also a Go Fund Me page that has been set up for the family, which has raised $9,570 so far of their $50,000 goal.

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5-year-old Maine girl with a rare disorder is only one of 19 in world who has it - NewsCenterMaine.com WCSH-WLBZ

A Walworth County family is looking for answers after the Milwaukee County Medical Examiner's Office ruled the death of 19-year-old Logan Tomasello as an "undetermined" cause.

Tomasello died on October 31st after vaping THC and nicotine, according to his family.

Toxicology reports found non-lethal amounts of THC and other substances in Logan's body but still could not find a cause of death.

"I just couldn't wrap my head around the fact that they had no clue how a healthy young man could just die," said Logan's mother Monica Tomasello.

Family suspect that some other compound was inside the vaping cartridge that Logan bought on the campus of the University of Wisconsin-Milwaukee.

Dr. Brian Peterson of the Milwaukee County Medical Examiner's Office told TODAY'S TMJ4 that undetermined deaths are very rare.

"We test exhaustively. We are frustrated by undetermined. If you look at last year's data of all the cases that we did, about 2% ended up in the undetermined category at the end of the day if we cant find anything we are thinking it's probably a natural death we just dont have a reason for it," said Peterson.

Logans family will now turn to genetic testing to see if something else could have caused his death.

Im worried about my daughter, I want to make sure she's protected she's safe. There has been no history of sudden cardiac death in either my ex-husbands family or myself ... if they do uncover something that was unknown, Id feel incredibly surprised but Id feel at least a little more comfortable knowing there was some reason behind all this, said Monica.

The family is also hoping to retrieve the vape cartridge from the Milwaukee Police Department to do their own testing on what was inside it.

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'I still feel like it had something to do with THC vaping:' UWM teen's cause of death 'undetermined' - WTMJ-TV

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EDMOND, Okla. (KFOR) - Each member of The Noodle Gang is either vision or hearing impaired, and pretty soon they're going to be up for adoption.

It's a full house at the Turner home in Edmond.

"We have Ravioli. We have Ramen, Linguini, Fettuccini, and Ziti, Moria Turner said.

What makes these furry friends unique is that all of them have hearing or vision issues.

The problem? That pretty merle coat can also become a cause of bad breeding.

If you breed two merle dogs together, so if you're breeding a merle dog with another merle, their puppies have a 25% chance of being blind or deaf, Turner said.

So how do you know if both the parents have the gene?

"If you look at them, you can see the really marbly coat then yes, that's a merle, but also there could be merle hidden in a dog that doesn't even look like a merle, so really any reputable breeder would have to have genetic testing prior to breeding."

It's a problem Moria Turner didn't know about until she fostered Luna about a year ago.

"When she's at home, she'll run around and she's fine. You don't even know that she's vision impaired. When we took her out of here and out to the lake, she kept falling off the dock and she just could not maneuver around as well, Turner said.

Moria and her husband adopted Luna to make sure she could be cared for properly.

Now, Moria is making it her mission to help other animals who are blind or deaf by starting Happy Tails Animal Rescue.

"We are trying to start this rescue really to raise awareness in Oklahoma for this and kinds of show people that these dogs really are adoptable and live really happy lives, Turner said.

The Noodle Gang are all Australian shepherds and will be up for adoption soon.

For more information on adopting the puppies email Moria happytailsrescuesociety@gmail.com.

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Local rescue warns of the dangers of breeding dogs with the merle gene - KFOR Oklahoma City

The market is estimated to grow with a CAGR of 10. 8% from 2018-2025. The growth of the cannabis testing market is primarily attributed to the European government is funding cannabis education for doctors, and increasing demand for research activities for cannabis quality.

New York, Jan. 29, 2020 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Europe Cannabis Testing Market to 2025 - Regional Analysis and Forecasts by Type ; Services ; End User and Country" - https://www.reportlinker.com/p05764200/?utm_source=GNW However, cannabis used as a street drug and trouble with CBD oil are likely to pose a negative impact on the market growth.

On the other hand, cannabinoid testing in Europe is likely to have a positive impact on the growth of the Europe cannabis testing market in the coming years.The growing number of countries are adopting medical cannabis laws but the governmental officials are rare that encouraging healthcare professionals to become educated about cannabis plant medicines.

On the use of cannabis in clinical practice, to instruct local healthcare providers, various cannabis experts were invited to Macedonia, in 2016.The program was held in Skopje and was supported and funded by the Macedonian Ministry of Health.

Cannabis provides the unique opportunities in Macedonia, where the medical system is in a stage of evolution and modernization. Local medical specialists are now able to prescribe cannabis in the country. Considering this, Macedonian cannabis promoters worked with local governments and created the medical cannabis training program in an effort to support doctors and their patients. Currently, the impetus of the Macedonian medical cannabis movement is moving quickly, and the public opinion on cannabis has also changed dramatically in the region. The medical marijuana resolution in the region urges the Commission and member states to address regulatory, financial and cultural barriers which burden scientific research and invite them to fund research. Thus, due to the above advancements, the cannabis testing market is expected to grow at a rapid pace during the forecast period.In 2017, the product segment held a largest market share of 73.7% of the cannabis testing market, by type. This segment is also expected to dominate the market in 2025 owing diverse portfolio of cannabis testing products to the healthcare industry for innovations in the technologies. Moreover, the same segment is also expected to witness the highest CAGR in the market accounting to 11.1% in 2018 to 2015 owing to increasing analytical services and medicinal cannabis services in testing cannabis.Europe cannabis testing market, based on services was segmented into potency testing, microbial analysis, residual solvent screening, heavy metal testing, pesticide screening, terpene profiling, and genetic testing. The potency testing segment is anticipated to grow at a CAGR of 11.8% during the forecast period.The testing laboratory segment held a largest market share of 49.2% of the cannabis testing market, by end user. This segment is also expected to dominate the market in 2025 owing to increasing number of diagnostic testing performed in the reference labs for the numerous diseases.

Some of the major primary and secondary sources for cannabis testing included in the report are Federal Commission for the Protection against Sanitary Risk (COFEPRIS), Defense Advanced Research Projects Agency (DARPA), German Research Foundation (DFG), European Research Area (ERA), Food & Drug Administration (FDA), Indian Institutes of Technology (IITs), Japan Society for the Promotion of Science (JSPS), Laboratory Information Management System (LIMS), Medical Marijuana Regulation and Safety Act (MMRSA), Non-Governmental Organization (NGO), National Science Foundation (NSF) and others.

Reasons to BuySave and reduce time carrying out entry-level research by identifying the growth, size, leading players and segments in the cannabis testing market.

Highlights key business priorities in order to assist companies to realign their business strategies.

The key findings and recommendations highlight crucial progressive industry trends in the global cannabis testing market, thereby allowing players across the value chain to develop effective long-term strategies.

Develop/modify business expansion plans by using substantial growth offering developed and emerging markets.

Scrutinize in-depth global market trends and outlook coupled with the factors driving the market, as well as those hindering it.

Enhance the decision-making process by understanding the strategies that underpin security interest with respect to client products, segmentation, pricing and distribution.Read the full report: https://www.reportlinker.com/p05764200/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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The Europe cannabis testing market is expected to reach US$ 807.9 Mn in 2025 from US$ 361.6 Mn in 2017 - Yahoo Finance

Global Direct-To-Consumer Genetic Testing Market Professional Survey Report 2020This research report provides detailed insight into the global Direct-To-Consumer Genetic Testing Market. The study will help to get a better understanding about the Direct-To-Consumer Genetic Testing Market competitors, a channel for the distribution, Direct-To-Consumer Genetic Testing growth potential, potentially disruptive trends, Direct-To-Consumer Genetic Testing Market product innovations, market size value/volume (regional/country level, Direct-To-Consumer Genetic Testing Market segments) and market share of top players/products.

The insight has been added in the report to provide realistic overview of the industry, consist of Direct-To-Consumer Genetic Testing manufacturers data, i.e. shipment, price, revenue, gross profit, business distribution, etc., SWOT analysis, recent developments and trends, drivers and restrain factors, company profile, investment opportunity, demand gap analysis, forecast market services and product, Porters Forces Analysis. It presents the 360-degree overview of the competitive landscape of the industries. Direct-To-Consumer Genetic Testing Market is showing steady growth and CAGR is expected to improve during the forecast period.

Manufacturer Detail23andMeMyHeritageLabCorpMyriad GeneticsAncestry.comQuest DiagnosticsGene By GeneDNA Diagnostics CenterInvitaeIntelliGeneticsAmbry GeneticsLiving DNAEasyDNAPathway GenomicsCentrillion TechnologyXcodeColor GenomicsAnglia DNA ServicesAfrican AncestryCanadian DNA ServicesDNA Family CheckAlpha BiolaboratoriesTest Me DNA23 MofangGenetic HealthDNA Services of AmericaShuwen Health SciencesMapmygenomeFull Genomes

Product Type SegmentationDiagnostic ScreeningPrenatal, Newborn Screening, and Pre-Implantation DiagnosisRelationship Testing

Industry SegmentationOnlineOffline

Global Direct-To-Consumer Genetic Testing Market report provides you with detailed insights, industry knowledge, market forecasts and analytics. The report on the global Direct-To-Consumer Genetic Testing industry also clarifies economic risks and environmental compliance. Global Direct-To-Consumer Genetic Testing market report assists industry enthusiasts including investors and decision makers to make confident capital investments, develop strategies, optimize their business portfolio, innovate successfully and perform safely and sustainably.

Direct-To-Consumer Genetic Testing Market: Regional Analysis Includes:

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Direct-To-Consumer Genetic Testing Market Analysis And Overview of Global Market In Term Of Size, Share, Growth And Development 2020-2024 - Galus...

LUND, Sweden, January 28, 2020 / B3C newswire / -- SAGA Diagnostics AB, a cancer liquid biopsy and genomic testing company focused on precision oncology and non-invasive ultrasensitive monitoring of cancer patients, today announces it has entered service agreements with the international pharmaceutical company Servier, based in Paris, France.

These deals exemplify the increased demand we are experiencing for our offerings of ultrasensitive cancer analysis services and analysis kits. We are excited to be working with Servier, who continues to choose us for important translational oncology projects. Lao Saal, CEO of SAGA Diagnostics.

The collaboration will be covering a total of three preclinical/clinical studies and is scheduled to run for approximately two years. In the course of these projects, SAGA Diagnostics will be developing assays and performing liquid biopsy tests on patients from multiple Servier clinical studies using the SAGAsafe technology (formerly known as IBSAFE) to identify and quantify circulating tumor DNA (ctDNA).

SAGAsafe technology is a patented improvement of digital PCR that enables approximately 100-fold increased sensitivity compared to competitor methods, and can be used to quantify mutations in tissue samples as well as liquid biopsies such as blood plasma with unprecedented performance to a limit of detection of ~0.001% mutant allele frequency. The analyses will be run in the SAGA Diagnostics central laboratory in Lund, Sweden.

We have been impressed by the service and ultra-sensitivity performance of SAGAsafes analyses and are looking forward to continue working together. Involving the SAGAsafe technology in these studies means that Servier will now be able to monitor effects at an earlier stage ensuring that we do not miss out on any insights. Brian Lockhart, Director of CentEx-Biotechnology, Servier.

SAGAsafe is part of a portfolio of ultrasensitive technologies, which also includes SAGAsign (formerly known as KROMA) for monitoring chromosomal rearrangements, as well as novel technologies in development. SAGA offers both off-the-shelf analysis services and kits as well as custom-tailored solutions to fit customers needs. SAGAs molecular tools are being used in clinical trials and hospitals for detecting actionable mutations, monitoring treatment response, measuring minimal residual disease, and identifying resistance mechanisms to help direct therapy.

About SAGA Diagnostics ABSAGA Diagnostics AB is a personalized cancer genomics and disease monitoring company that offers molecular genetic testing of tissue biopsies and non-invasive liquid biopsies such as blood samples. With SAGAsafe and SAGAsign services and kits, SAGA helps pharmaceutical companies, scientists, and healthcare providers to detect actionable mutations, stratify patient groups, and monitor treatment response more accurately and to an industry-leading lower limit of detection of 0.001%. Analysis of circulating tumor DNA using these proprietary technologies gives SAGA unique ultrasensitivity, and gives patients peace of mind.Follow us on Twitter@SAGAdiagnosticsandLinkedIn.

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ke Nilsson, BD Director This email address is being protected from spambots. You need JavaScript enabled to view it.+46 733 01 72 42

Keywords: Circulating Tumor DNA; Neoplasm, Residual; Limit of Detection; Precision Medicine; Liquid Biopsy; Medical Oncology; Genetic Testing; Pharmaceutical Preparations

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SAGA Diagnostics Extends its Collaboration with Servier to Use Ultrasensitive SAGAsafe Technology in Cancer Clinical Trials - b3c newswire

In October 2011, Amber Broman remembers sitting in the doctors office bawling, screaming and crying out.

Minutes earlier, she had learned that the baby girl she was carrying would likely never have the chance to talk or walk, ride a bike or drive a car or be walked down the aisle on her wedding day.

We had an amniocentesis and had noticed some abnormalities in the ultrasound, Broman noted. So we saw a specialist in Indianapolis and did an amnio there too. On the ultrasound, they initially saw multiple defects within her heart, and they didnt think her esophagus was attached to her stomach. And thats when they told me what it was and that it was in every cell of her body.

The condition was Trisomy 18.

It was five weeks before the Kokomo woman was to deliver, and all she remembers hearing that day were the words incompatible with life.

According to the National Institutes of Health, Trisomy 18 is a chromosomal genetic disorder that includes a combination of birth defects that impact nearly every organ in the body. People born with the disorder, also known as Edwards syndrome, have three copies of the 18th chromosome, and most babies with Trisomy 18 die within the first year of life.

She only lived two days, Broman said, referring to her daughter she named Khloe Nicole. We chose comfort care for her because we did not necessarily want to go through having her on machines and then making those decisions. We chose to just let life take its course, and we had almost 48 full hours with her.

Broman is not alone.

The CDC describes a birth defect as a structural change present at birth that can affect any or all parts of the body. They vary from mild to severe and depending on the type of defect, some infants can go on to live healthy lives.

In the United States, a baby is born with a birth defect every four-and-a-half minutes, according to the Indiana Birth Defects and Problems Registry, which equals roughly 120,000 babies per year.

In the Hoosier state, birth defects are the second leading cause of death for infants, with over 2,500 Indiana babies born each year with some type of congenital abnormality, such as a cardiovascular, chromosomal, central nervous system or musculoskeletal defect.

In 2018 alone, the Indiana State Department of Health concluded that birth defects contributed to 6.8 deaths per 1,000 births, a slight dip from 2017.

The infant mortality rate in Indiana is the lowest its been in six years, the ISDH noted, but the rate is still one of the highest in the nation.

In recent months, Gov. Eric Holcomb has taken the infant mortality plight to the public stage, making it one of the top priorities in his administration to have the lowest infant mortality rate in the Midwest by 2024.

The state has already begun the process of achieving that goal, rolling out programs and committees with the sole focus of lowering the infant mortality rate.

One of those programs, OB Navigator, was signed into law in 2019 and works in collaboration with the ISDH, the Indiana Family and Social Services Administration and the Indiana Department of Child Services.

OB Navigator was established by Indiana House Enrolled Act 1007 and is set in place to build a network of services and support throughout Indiana to wrap our arms around moms and babies to create healthier outcomes for both, its website states.

The program works as a connection tool between women who are early in their pregnancies and individuals who can provide personal guidance for those women through the rest of those pregnancies and at least the first six months of life.

Some of that guidance includes a Moms Helpline, which is a contact center that connects pregnant women throughout Indiana to available resources and a network of prenatal and child healthcare services, the programs website cites.

In a recent press release on the subject, State Health Commissioner Kristina Box noted that OB Navigator will be available to women on Medicaid in the states highest-risk counties, and organizers of the program anticipate enacting it in 20 counties by the end of 2020.

Visit the ISDHs website at in.gov/isdh/ for more information about the program.

While doctors do say that many birth defects cant necessarily be fully prevented, there are ways to lower the risk factor.

We usually dont start doing testing until about the second trimester of pregnancy, said Dr. Andrew Barlow, OBGYN at Trinity Health Network. We start offering blood tests and ultrasounds at that time to determine birth defects. However, there are women that can undergo screening beforehand if theyre at higher risks.

Women that fall into those categories are those over 35 or women with certain medical conditions, Barlow noted.

Because fetal growth, like organ development, takes place in the first few weeks of pregnancy, Barlow said its imperative to see your doctor on a regular basis if youre planning on becoming pregnant.

Review your medical history and make sure youre healthy enough to have children too, Barlow added. And make sure that youre not taking any medication that can contribute to birth defects. Also obviously dont abuse alcohol or drugs during pregnancy either.

Its also important to take a prenatal vitamin with the right amount of folic acid [400 mg], Barlow added, which having a deficiency of can lead to brain and spine defects like spina bifida or anencephaly. Spina bifida is a birth defect in which a developing babys spinal cord fails to develop properly. Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during the development of the embryo.

Dr. Sheila Hockman, OBGYN at Ascension Medical Group and part of a state-wide Maternal Mortality Review Committee enacted to address the issue, agreed with Barlow, while also stressing that, such as in cases like young Khloes, there is really nothing that mothers can do to prevent such a defect.

However, areas like genetic testing can still be a giant help, even if a defect is already in place, she noted.

You can do genetic testing early in the pregnancy, Hockman said. And a lot of people, when we ask them if they want to do genetic testing, theyll say no because theyre going to deliver the baby regardless.

But for us, its not a matter of keeping the pregnancy or terminating it, she continued. Its the more well-prepared we are during the pregnancy, it enables us to care possibly in a different fashion. Do they need to see a maternal fetal medical specialist or can this pregnancy be monitored like a regular uncomplicated pregnancy? Its that sort of thing.

That can sometimes mean the difference between life and death, Hockman added.

The big point I would like to get across is that there are so many of these birth defects that are preventable, especially when you look at things like maternal obesity, she said. Its a national issue, but we can do something about it, and it often just takes a healthier lifestyle.

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'Incompatible with life': Birth defects second leading cause of death for infants in Indiana - Kokomo Tribune

A Senate committee is considering a bill that would make shelter animals and those rescued from shelters the official Florida state pet. That would put adopted cats and dogs alongside the manatee as the official state marine mammal, the alligator as the state reptile, the Florida panther as the state animal and the zebra longwing as the state butterfly.

TALLAHASSEE Sometimes Florida lawmakers fight like cats and dogs. Now they are fighting for cats and dogs.

Lawmakers are entering the third week of their annual 60-day session, and the Senate is taking up an abortion bill that's been divisive. But legislators are also taking up a number of measures that probably won't get "no" votes and likely won't get lawmakers in a lather of opposition.

Among them are animal bills. A Senate committee is considering a bill that would make shelter animals and those rescued from shelters the official Florida state pet. That would put adopted cats and dogs alongside the manatee as the official state marine mammal, the alligator as the state reptile, the Florida panther as the state animal and the zebra longwing as the state butterfly.

Another bill being considered would ban the declawing of cats unless it is medically necessary. The legislative staff analysis of the bill says people usually declaw cats to protect furniture and describes why cats should be able to hang on to their claws.

"A cat's claws play an important role in various aspects of their lives. They use their claws to assist in climbing and maintaining balance, to help them fully stretch, to relieve stress through kneading, and to escape danger," the analysis reads.

Another animal bill being considered would ban the practice of pet leasing. That's essentially when a pet dealer gives a customer a loan to pay for their pet, but then repossesses the pet when the loan can't be repaid.

Another measure that's not expected to generate vocal opposition: A proposed Senate resolution would reject and condemn white supremacy and any other philosophy that espouses one group over another on the basis of race, gender, religion, color or national origin.

The resolution won't become law, but rather send a strong message that the Senate doesn't like hate.

"These philosophies are contradictory to the values, constitutional protections, and moral fiber of the United States of America and the State of Florida," the resolution reads.

A bill that would force girls under the age of 18 to get a parent's permission before getting an abortion will be considered by the full Senate on Wednesday. It's an issue that's divided Democrats who say it's an erosion of abortion rights and Republicans who say parents should be part of the decision if their daughters have a medical procedure that could affect them the rest of their lives.

Senators will be able to ask questions about the bill and Democrats will have a ton of them but won't vote on the measure until the following week. The House is also prepared to vote on a similar bill, but will likely wait to receive the Senate version.

Republican Gov. Ron DeSantis supports the measure.

The full House will take up a bill that would bar insurance companies from using home genetic testing kits in making underwriting decisions. The legislation is sponsored by Rep. Chris Sprowls, who is next in line to become House speaker. He calls the measure a matter of privacy.

The bill seeks to outlaw life, disability and long-term care insurers from denying policies or setting premiums based on markers that might be discovered through DNA home kits.

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Florida Legislature going to the dogs (and cats) - Destin Log

Chronic disease management startup Lark Health rolled out its "Lark Prevention" tool aimed at providing behavioral health coaching to patients at risk for developing chronic conditions,according to MobiHealth News.

Business Insider Intelligence

The AI-enabled program was designed to guide users through behavioral coaching to address health issues including weight management, smoking cessation, and stress users can select an initial health area to address, and once that program is completed, they can select a second area to focus on.

The rollout of the tool is the latest move Lark has taken to expand its scope of services and the launch could expand the size of its addressable market in the digital chronic disease management space.

Lark Health has been bolstering its diabetes and hypertension management services across the last year.The startup focused its early work in the chronic disease management space, aiming to personalize diabetes prevention and management.

Lark expanded on its personalized prevention tools through a January 2019partnershipwith genetic testing giant 23andMe to incorporate genetic test data into Lark's diabetes prevention software enabling Lark's health coaches to give users more personalized health care recommendations. And Lark is seeing impressive results with its chronic disease management endeavors: Larkannouncedin September 2019 that its hypertension management program was able to significantly reduce blood pressure and decrease the risk of stroke for patients following a period of six months.

With a growing number of US citizens at-risk for chronic conditions, the new launch could help Lark widen its addressable market as it branches into new treatment areas.For example, the new tool targets weight management, and obesity is a major health issue in the US: The prevalence of obesity was nearly 40% and affected about 93.3 million US adults in 2015-2016 alone,perthe CDC.

Further, obesity is often associated with chronic conditions like type 2 diabetes, stroke, heart disease, and certain cancers which represent some of the leading causes of preventable, premature death in the US.

The launch of Lark Prevention tool makes the startup an attractive option to payers thanks, in part, to its value-based care (VBC) billing approach.Payers who areincorporatingdigital tools into their benefits packages would likely view future partnerships with Lark Health as an enticing proposition: A whopping90%of US healthcare spending is funneled into managing and treating chronic conditions, and payers are looking for ways to curtail their share of spending on members with chronic disease.

And with Lark Prevention tool targeted to at-risk patients, payers could see the tool as a means to bypass the development or progression of costly chronic conditions, thus reducing spending in the long-term. Further, payers may have little to lose in a tie-up with Lark Health, considering it employs aVBC-basedbilling approach known as "no-risk performance-based billing" in which the startup only charges payers when its members enroll in Lark and achieve improved health outcomes, making it an even more attractive potential partner.

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Lark Health launched its preventative health tool for patients at risk of chronic conditions - Business Insider Nordic

In the largest genetics study of its kind to date, scientists have identified 102 genes associated with the risk for autism spectrum disorder (ASD).

Researchers also gained further insight into which of these genes are associated with both ASD and other disorders that cause intellectual disability and developmental delay.

For the study, an international team of researchers analyzed more than 35,000 participant samples, including almost 12,000 from people with ASD.

Researchers used a genetic technique called exome sequencing, which looks at all the regions of a persons genetic information or genome that are translated into proteins. This testing can pick up rare genetic mutations that might not show up with other methods.

Dr. Lonnie Zwaigenbaum, a professor in the Department of Pediatrics and the Stollery Childrens Hospital Foundation Chair in Autism at the University of Alberta, called this an exciting study, both for the sophisticated methods used and the large sample size.

These enabled researchers to identify a larger number of genes than ever before, which gives insight into how those genes operate and how they might increase the risk of ASD, said Zwaigenbaum, who wasnt involved in the research.

The study results were published January 23 in the journal Cell.

ASD is a group of neurological and developmental conditions that affect communication and behavior. Theres wide variation in the type and severity of symptoms in people with ASD.

Scientists believe that both genes and environment are involved in the development of ASD, with genetics playing a big part.

We know that inherited and unique mutations in the genome are a major source of risk for developing ASD, but specific causes of ASD are not yet well understood, said Lori J. Warner, PhD, director of the Center for Human Development and Ted Lindsay Foundation HOPE Center at Beaumont Childrens Hospital in Royal Oak, Michigan, who wasnt involved in the study.

Although environmental factors play some role in ASD, scientific studies have found that theres no link between receiving vaccines and developing ASD.

The new study marks an important step forward in scientists understanding of the genetic basis of ASD.

Researchers identified both inherited genetic mutations and de novo mutations ones that occur spontaneously when an egg or sperm form.

They also found that the ASD genes identified in the study can affect brain development or brain function. And they showed that two major types of nerve cells can be affected in ASD.

Of the 102 genes identified in the study, 49 were associated with other developmental delays.

Some genes appear connected to the development of ASD, whereas others may increase risk for ASD plus severe neurodevelopmental disorder, said Warner. We dont yet understand fully this process, but differentiating ASD from other disorders is important for effective treatment.

Zwaigenbaum said the overlap between ASD and other neurodevelopmental disorders fits with previous research.

This study reinforces that there are many genes that may have some role in autism vulnerability, but that also have a broader role in early brain development, said Zwaigenbaum.

These genes have a broader expression in terms of developmental abilities and challenges of the affected individual.

While scientists now understand ASD better as a result of this study, this kind of research also points toward better ways to help children with ASD.

The greatest benefit of studies of this type is helping researchers, families, and interventionists better understand how genetic factors actually function in the developing brain and body of the individual, said Warner, so that treatments can be developed to ameliorate or completely block the disruptive changes that lead to disorders such as ASD.

But Zwaigenbaum cautions that the results of the study will not lead to clinical benefits right away.

Theres a lot of translational work that would still need to happen in order to assess whether the findings from this study will directly inform assessment, diagnosis, or treatment, he said.

Still, he said the results provide direction for future research into potential biological treatments, as well as genetic tests that could allow earlier diagnosis of ASD.

Warner said there are medications currently approved for use in children with ASD, but they address symptoms like agitation or anxiety, rather than the core social or behavioral deficits of ASD.

Early diagnosis is another goal of ASD research, because the sooner children are identified and appropriately assessed, the sooner families can receive needed supports, said Warner.

But ASD is a complex condition, so genetic diagnosis isnt always straightforward.

Although studies like this continue to expand our appreciation for the increasing number of genes associated with ASD, the reality is that a genetic cause is seldom identified in most children with ASD even with the most sophisticated genetic testing, said Andrew Adesman, MD, chief of Developmental & Behavioral Pediatrics at Cohen Childrens Medical Center in Queens, New York, who wasnt involved in the study.

But he said theres still value in parents of a child with ASD seeking out genetic testing, especially as genetic technologies advance.

There have been steady gains in terms of the diagnostic yield of genetic testing, said Adesman. For this reason, parents of children with ASD may wish to discuss with their pediatrician whether their child should have the newer genetic tests done.

In the absence of a simple test for ASD, there are still things parents can do for their children.

The single most important things families and healthcare providers can do is to be aware of the risk factors and early signs and symptoms of autism, and get connected with needed services as soon as possible, said Warner.

Continue reading here:
What Causes Autism? Researchers ID 102 Genes Linked to Condition - Healthline

Thursday, January 23, 2020

Florida could be the first state to deny life and long-term care insurers access to genetic test results. Under a new bill titled Genetic Information for Insurance Purposes (HB 1189), life insurers and long-term care insurers are prohibited from canceling, limiting, or denying coverage, or establishing differentials in premium rates based on genetic information. In addition, HB 1189 would prevent life insurers and long-term care insurers from requiring or soliciting genetic information, using genetic test results, or considering a person's decisions or actions relating to genetic testing in any manner for any insurance purposes.

On Jan. 16, the Florida House Health & Human Services Committee passed HB 1189 without any debate. The bill is now being reviewed by the Commerce Committee, which will have to clear the bill before it would be ready to go to the full House.

HB 1189 is sponsored by Representative Chris Sprowls, the incoming Speaker-designate. It is the only bill he has filed this year. In the Senate, the bill is sponsored by Kelli Stargel, who is part of Senate leadership. Given HB 1189s sponsors, the issue will likely be a high profile one, and will have a good chance of passing in the next year or two.

Existing federal law, the Genetic Information Nondiscrimination Act (GINA), protects Americans from discrimination in health insurance, employment decisions, and employee benefit decisions on the basis of genetic information. Under GINA, U.S. insurance companies and health plans (including both group and individual insurers, as well as federally regulated plans) are prohibited from:

looking at predictive genetic information or genetic services before enrollment;

requesting or requiring that individuals or their family members take a genetic test;

restricting enrollment based on genetic information;

changing premiums based on genetic information.

GINA, however, does not cover life, long-term care, or disability insurance providers. As a result, those companies can ask about health, family history of disease, or genetic information, and reject those that are deemed too risky.

2020 Greenberg Traurig, LLP. All rights reserved.

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Genetic Non-Discrimination Bill Advances in Florida - The National Law Review

As the threats of cyberattacks now loom large in the aftermath of recent U.S. tensions in the Middle East, caution is needed with recreational use of genetic testing.

Just a month ago, on Dec. 20, a memorandum advising U.S. military personnel to refrain from the purchase or use of direct-to-consumer (DTC) genetic testing services was sent to a wide Defense Department distribution list. This memo came from the U.S. Under Secretary of Defense for Intelligence Joseph D. Kernan and Assistant Secretary of Defense for Manpower and Reserve Affairs James N. Stewart. This was a wise move, as Kernan and Stewart reminded their audience that this largely unregulated DTC genetic testing industry poses potential risks to individual privacy and to national security that could affect military operational readiness.

Privacy considerations and readiness issues are raised by DTC genetic testing of military service members, and major security concerns are at hand.

We already know that foreign governments are exploiting various surveillance methods, including DNA-typing, for monitoring individuals without their consent. There are well-known national security concerns that biological weapons can target specific groups or individuals who are genetically vulnerable to the effects of weaponized pathogens or other diseases. Besides these concerns, large-scale DNA typing affords use of genetic data for individualized identification, permits identification of unexpected parentage and family relationships, and exploits the ability to estimate bio-geographic ancestry.

While some of these genetic data generated are useful for various recreational purposes and for certain forensic investigations, unauthorized hacking of the data on military members could compromise national security for covert operators and for unit cohesion and mission readiness.

Two facts about genetic testing in military health settings are not well-appreciated.

First, protections of the Genetic Information Nondiscrimination Act (aka GINA), signed into law by President George W. Bush, do not apply to the military. While there are some policies in place to deal with genetic health information for service members, some genetic testing results, for example the finding of sickle cell trait, can place restrictions on some members with aviation specialties.

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Second, U.S. DoD policies (i.e., DodI 6025.19) require service members to report (any) medical and health issues that may affect their individual readiness to deploy to serve on active status and to report any significant health information up the chain-of-command.

These realities present conundrums for those serving on active status in the military. This is due to the large amount of genetic data that are assessed by the DNA companies, often then shared electronically with other companies from the saliva or cheek swab samples they collect.

Depending on the testing kit and service requested by the consumer, genetic disease carrier state and health risk information is often communicated, but not necessarily confirmed or validated by another method, nor are new tests necessarily even reviewed by the FDA before being offered. Such testing results, if affecting a large fraction of those serving in a military unit be it a squad, platoon or company could easily interfere with critical missions if the purported results require verification by followup testing or clinical evaluation of the service member.

These matters concern all of us. Our passion for freedom requires us to walk the long and winding road to digital freedom. We must more carefully examine the commercial interests of DTC companies and the security of the genetic data they control as we balance interests in privacy of our service members and our national security, too often threatened and those of privacy rights, too often denied.

Frederick R. Bieber, Ph.D., is a forensic DNA-expert and member of the faculty of medicine at Harvard University. He served as a U.S. Army Reserve officer at the U.S. DoD DNA-Identification Laboratory (AFDIL) in Rockville, Maryland, the Dover AFB Mortuary, and at the U.S. Army Criminal Investigation Laboratory (USACIL) at Fort Gillem, Georgia.

Editors note: This is an Op-Ed and as such, the opinions expressed are those of the author. If you would like to respond, or have an editorial of your own you would like to submit, please contact Military Times managing editor Howard Altman, haltman@militarytimes.com.

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Digital freedom and DNA: Caution advised on the road ahead - Military Times

Lets say, for the holidays, you got a kit from Ancestry.com, 23andMe or a similar company to send in your DNA (aka your spit) and discover your roots as well as your personalized health report.

You spit, you send it off, and youre starting to get the results back.

And in that personalized health report, theres an indication for an increased cancer risk, or theres no indication of an increased cancer risk ... now what? Can these reports be believed? Should you go running to find the nearest doctor to prevent your impending death?

Gayle Patel, a certified genetic counselor and the director of the Genetic Risk Evaluation and Testing Program at Texas Oncology, wants people to know these tests arent looking at the whole genome. Theres a limit to what it can do, she says, but they might come up with some interesting health traits, as well as your long-lost ancestors.

Some of the mysteries they can solve, such as whether there is a genetic reason you prefer chocolate or vanilla ice cream, can be fun, she says. But its not telling the whole story.

If results from one of these tests show an increased risk for something, she recommends bringing that information to your doctor at your next appointment. Its not that you have a disease but that you may have an increased risk, she says.

Your doctor will want to assess what the risk is, how accurate it is and what preventative steps you might want to take, she says.

These boxed ancestry/DNA tests dont have the experts who can personalize the test for you based on your medical and family histories. They also dont have a person explain it to you and make a plan for you.

It can be difficult and scary, she says, to get these results. None of this is destiny or fate. Its talking to you about personalizing your medical care.

Her bigger concern is not that these tests are going to find a risk; its that they wont find a risk and you will think you are fine and not do the usual preventative treatments or recommended screenings.

For example, about a year ago, 23andMe added some of the BRCA mutations to what it looks for. BRCA mutations indicate a risk for breast cancer and ovarian cancer. Patel says this test now is looking at only three of the mutations when there are thousands. Weve had patients who think they have tested negative for that type of cancer when its not true.

Instead, based on personal medical history and family history, shell recommend doing a medical-grade test in an office that specializes in genetic testing to get a comprehensive look at all types of cancer risks.

Were either going to confirm or make sure were not missing something else that can be just as important, Patel says.

Medical testing has gone down in price, and this kind of genetic testing now can be done for about $250, she says, which is about the price of the 23andMe or Ancestry.com kit that includes health DNA. Often, based on medical history, insurance will cover the medical tests.

Patel also wants folks to realize that only about 5% to 10% of all cancers have a known genetic component. Of course, it depends on the type of cancer. Ovarian cancer has about a 23% genetic link, she says, but lung and cervical cancer tend to be more environmental and less likely to be genetic.

New gene mutations are being discovered all the time as more and more data is collected, and what genetics counselors can test for changes all the time, too.

Patel also recommends reading the fine print of where your DNA data is being stored by these companies. Who owns the data, and how is the data being shared? It might be going to a database accessed by pharmaceutical companies for research on new cancer treatments, or it might be on an open database accessible to anyone. As long as they are informed and educated, she says, then these tests are OK. Learn before they spit.

As well, be prepared for the results you might get, such as a long-lost brother or that your father isnt your biological father. It could be one of these surprises that could change how you think about your family, she says.

More:
What 23andMe, Ancestry.com kits arent telling you about your health risks - austin360

Researchers have identifiedmore than 100 genes associated with autism in the largest genetic-sequencing study to date that could help shed light on the causes of the condition.

In a study published Thursday in the peer-reviewed journal Cell, a team of researchers identified 102 genes associated with the risk of autism spectrum disorder (ASD), using samples from more than 35,000 participants, 12,000 of which had autism. They were able to study genes that were inheritedas well as those that occurred spontaneously when the egg or sperm is formed.

The study shows progress toward teasing apart genes associated with ASD from those associated with intellectual disability and developmental delay, conditions that often overlap.

Of the 102 genes associated with ASD risk, 49 were also associated with other developmental delays.

With these identified genes we can begin to understand what brain changes underlie ASD and begin to consider novel treatment approaches, Joseph Buxbaum, the director of the Seaver Autism Center for Research and Treatment at Mount Sinai, said in a statement.

ASDis a developmental disorder that affects communication and behavior, and although autism can be diagnosed at any age, it is said to be a developmental disorder because symptoms generally appear in the first two years of life.

The Centers for Disease Control and Preventionestimates that about 1 in 59 children has been identified with ASD.

Researchers said the results were encouraging as genetic testing could increase the likelihood of figuring out the cause of some childrens autism.

Through our genetic analyses, we discovered that its not just one major class of cells implicated in autism, but rather that many disruptions in brain development and in neuronal function can lead to autism, Buxbaum said. We now have specific, powerful tools that help us understand those underpinnings, and new drugs will be developed based on our newfound understanding of the molecular bases of autism.

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Researchers identify more than 100 genes associated with autism - The Hill

Chicago, United States, Jan 22, 2020 Report Hive Research adds Breast Cancer Predictive Genetic Testing market report to its market research database. This report is a detailed study of core market elements which represents concise analysis of the growth factors impacting the business scenario in the next five years to come. Breast Cancer Predictive Genetic Testing Market covers major assorted regions across the globe along with providing in depth regional analysis for every region ranging from North America, Europe, South America, MEA and Asia-Pacific depending on the report specifications mentioned in the table of content.

Breast Cancer Predictive Genetic Testing market report provides substantial information on the industry size, share, trends and applications; further offering vital statistics to market players and investors. Such information poses a high level of accuracy as the data is sourced from reliable entities and figures denoted are summed after extensive market analysis. The data obtained from the report eases of predicting upcoming market opportunities.

In this report, our team research the global Breast Cancer Predictive Genetic Testing market by type, application, region and manufacturer 2014-2020 and forcast 2021-2026. For the region, type and application, the sales, revenue and their market share, growth rate are key research objects; we can research the manufacturers sales, price, revenue, cost and gross profit and their changes. Whats more, we will display the main consumers, raw material manufacturers, distributors, etc.

Download PDF Sample of this Report @ https://www.reporthive.com/request_sample/2144051

Furthermore, the brief competitive analysis included in the study illustrates the current status of major market players along with their expansion strategies and portfolio developments. Breast Cancer Predictive Genetic Testing market is bound to witness significant gains and is predicted to register a substantial CAGR in the years to come. The statistical graphs and figures included in this report displays global market share in term of sales and revenue.

Encompassing a comprehensive overview on market size, share and growth opportunities, Breast Cancer Predictive Genetic Testing market report allows to garner detailed insights on segmental growth which is propelled by specific applications in the key regions and countries as per denoted in the table of content. For this, the report considers market volumes and numbers generated from the segmental analysis.

Such segmentation uncovers various hidden trends and market statistics that may highly influence the decisions of various participants, including investors and new market entrants. The report also presents detailed analysis of the major vendors and manufacturers in the market further proving helpful to the start-ups looking to set up their business portfolios in the Breast Cancer Predictive Genetic Testing market.

Get Detailed Overview of this Report: https://www.reporthive.com/Report/2144051/Breast-Cancer-Predictive-Genetic-Testing-Market

Finally, the report decisively elaborates on key drivers which are set to augment Breast Cancer Predictive Genetic Testing market growth during the forecast timeframe. Along with this, it briefs on both the opportunities and challenges that likely to impact the business growth and the market as a whole. Pointing toward key emerging trends and their impacts on present and future prospects this comprehensive study helps sustaining the extremely competitive landscape by enabling to plan accordingly as per the market conditions.

Leading players of Breast Cancer Predictive Genetic Testing including:

RocheThermo Fisher ScientificPerkinElmerQuest DiagnosticsMyriad GeneticsIverson GeneticsCancer GeneticsOncoCyte CorporationNeoGenomicsInvitae

Market split by Type, can be divided into:

High Penetrant GenesIntermediate Penetrant GenesLow Penetrant Genes

Market split by Application, can be divided into:

HospitalsClinicsOther

If you have any special requirements, please let us know and we will offer you the report as you want.

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Breast Cancer Predictive Genetic Testing Market Product and Application Segmentation till 2020 Dagoretti News - Dagoretti News

Growing up, cancer for me was something that old people got. I lost my maternal grandmother before I even got a chance to meet her, my paternal grandfather by the time I was six and my paternal grandmother at 13.

It wasn't until my mother was diagnosed with brain cancer at the age of 48 that it became real: this disease doesn't just hit elderly people.

My mother's cancer was a rare one: hemangiopericytoma, a type that can be dormant for long periods of time. She went through brain surgery, radiation andlost the vision in her left eye. She ultimately kicked that cancer in the butt.

But it wasn't long after that my mother's cousins were diagnosed with cancers of their own all three before turning 55. All of their mothers had died from cancers similar to the ones they were now diagnosed with.

The similarities were too much for one of my cousins who worked in the healthcare field. With the help of her doctor, they figured out that Lynch Syndrome runs in my family.

Join CBC Saskatchewan's Sam Maciag for the January edition of The Novel Idea Society book club. This month, we'll be readingDaughter of Family G: A Memoir of Cancer Genes, Love and Fateby Ami McKay, which deals with the topic of Lynch Syndrome.

Lynch Syndrome gives the carrier a genetic predisposition to a laundry list of different cancers, meaning there's a mutation in their genes that makes them more likely to become ill. And it's hereditary.

Lynch Syndrome can be identified through the same genetic testing process as the breast cancer BRCA gene test, which has surged in popularity since Angelina Jolie came out about her genetic history.

It wasn'thelpful that my entire family is in Ontario, where the high population causes more roadblocks to testing.

Here in Saskatchewan, it starts with your family doctor, then testing in Saskatoon. When you start genetic testing, you have a counselling session to prepare you for the information you could find out. I feel like my attitude of "it's not 'if,' it's 'when'" prepared me for this meeting. Since my mom was diagnosed the first time I truly believed that it was an "I will get cancer in my lifetime" situation.

I also had made the decision early in my life that children were not for me, so having a hysterectomy or mastectomy wasn't a major concern. These are preventative surgeries that you can have if you are positive about your genetic makeup, to help you with your chances of avoiding the cancers that affect these organs.

I've taken a different approach, though.

At the same time my cousins and motherwere going through their genetic testing, I stumbled into an online test group with a health and fitness professional, which led me to understand more about how diet could play a role in my health and my fight against cancer.

My mother was diagnosed with HER2+ breast cancer during this time of discovery. This was a hard one. The accessibility to information that the Internet provided wasn't always a benefit to her mentally during this fight. It provided her with a black hole of information, very little of which waspositive.

I was also an adult this time around, which gave me more insight into what was going on. Seeing her struggle through the fight the second time really pushed me to start researching ways to make my body somewhere cancer doesn't want to grow.

Knowing what is in my family history has given me two options: either cause me to live in fear or push me to educate myself on what I can do to give me the best chance to live a long life. I personally have chosen option two and used it as a way to help others succeed in their lives.

This column is part of CBC'sOpinionsection. For more information about this section, please read thiseditor's blogand ourFAQ.

Interested in writing for us? We accept pitches for opinion and point-of-view pieces from Saskatchewan residents who want to share their thoughts on the news of the day, issues affecting their community or who have a compelling personal story to share. No need to be a professional writer!

Read more about what we're looking for here, then emailsask-opinion-grp@cbc.cawith your idea.

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My genes are stacked against me; it's made me a fighter - CBC.ca

What exactly is biotechnology, and how could it change our approach to human health?

As the age of big data transforms the potential of this emerging field, members of the World Economic Forum's Global Future Council on Biotechnology tell you everything you need to know.

Elizabeth Baca, Specialist Leader, Deloitte Consulting, and former Deputy Director, California Governors Office of Planning and Research & Elizabeth ODay, Founder, Olaris, Inc

What if your doctor could predict your heart attack before you had it and prevent it? Or what if we could cure a childs cancer by exploiting the bacteria in their gut?

These types of biotechnology solutions aimed at improving human health are already being explored. As more and more data (so called big data") is available across disparate domains such as electronic health records, genomics, metabolomics, and even life-style information, further insights and opportunities for biotechnology will become apparent. However, to achieve the maximal potential both technical and ethical issues will need to be addressed.

As we look to the future, lets first revisit previous examples of where combining data with scientific understanding has led to new health solutions.

Biotechnology is a rapidly changing field that continues to transform both in scope and impact. Karl Ereky first coined the term biotechnology in 1919. However, biotechnologys roots trace back to as early as the 1600s when a Prussian physician, Georg Ernst Stahl, pioneered a new fermentation technology referred to as zymotechnology.

Over the next few centuries, biotechnology was primarily focused on improving fermentation processes to make alcohol and later food production. With the discovery of penicillin, new applications emerged for human health. In 1981, the Organization for Economic Cooperation and Development (OECD) defined biotechnology as, the application of scientific and engineering principles to the processing of materials by biological agents to provide the goods and services.

Today, the Biotechnology Innovation Organization (BIO) defines biotechnology as technology based on biology - biotechnology harnesses cellular and biomolecular processes to develop technologies and products that help improve our lives and the health of our planet.

In the Fourth Industrial Revolution, biotechnology is poised for its next transformation. It is estimated that between 2010 and 2020 there will be a 50-fold growth of data.

Just a decade ago, many did not even see a need for a smart phone, whereas today, each click, step we take, meal we eat, and more is documented, logged and analyzed on a level of granularity not possible a decade ago.

Concurrent with the collection of personal data, we are also amassing a mountain of biological data (such as genomics, microbiome, proteomics, exposome, transcriptome, and metabolome). This biological-big-data coupled with advanced analytical tools has led to a deeper understanding about fundamental human biology. Further, digitization is revolutionizing health care, allowing for patient reported symptoms, feelings, health outcomes and records such as radiographs and pathology images to be captured as mineable data.

As these datasets grow and have the opportunity to be combined, what is the potential impact to biotechnology and human health? And better still, what is the impact on individual privacy?

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Image: Infographic developed by the California Biotechnology Foundation: A special thank you to Patricia Cooper, Executive Director, California Biotechnology Foundation

Daniel Heath, Senior Lecturer in the University of Melbourne's Department of Biomedical Engineering & Elizabeth Baca & Elizabeth ODay

One of the most fundamental and powerful data sets for human health is the human genome. DNA is our biological instruction set composed of billions of repeating chemical groups (thymine, adenine, guanine, and cytosine) that are connected to form a code. A persons genome is the complete set of his or her DNA code, ie the complete instructions to make that individual.

DNA acts as a template to produce a separate molecule called RNA through the process of transcription. Many RNA molecules in turn act as a template for the production of proteins, a process referred to as translation. These proteins then go on to carry out many of the fundamental cellular tasks required for life. Therefore any unwanted changes in DNA can have downstream effects on RNA and proteins. This can have little to no effect or result in a wide range of diseases such as Huntingtons disease, cystic fibrosis, sickle cell anaemia, and many more.

Genomic sequencing involves mapping the complete set, or part of individuals DNA code. Being able to detect unwanted changes in DNA not only provides powerful insight to understand disease but can also lead to new diagnostic and therapeutic interventions.

The first human genome sequence was finished in 2003, took 13 years to complete, and cost billions of dollars. Today due to biotech and computational advancements, sequencing a persons genome costs approximately $1,000 and can be completed in about a day.

Important milestones in the history of genomics

1869 - DNA was first identified

1953 - Structure of DNA established

1977 - DNA Sequencing by chemical degradation

1986 - The first semi-automated DNA sequencing machine produced

2003 - Human genome project sequenced first entire genome at the cost of $3 billion

2005 - Canada launches personal genome project

2007 - 23andMe markets first direct to consumer genetic testing for ancestry of autosomal DNA

2008 - First personal genome sequenced

2012 - England launched (and finished in 2018) 100K genome project

2013 - Saudi Arabia launched the Saudi Human Genome Program

2015 - US launched plan to sequence one million genomes

2015 - Korea launched plan to sequence 10K genomes

2016 - US launched All of Us Research cohort to enroll one million or more participants to collect lifestyle, environment, genetic, and biologic data

2016 - China launched the Precision Medicine initiative with 60 billion RMB

2016 - France started Genomic Medicine 2025 Project

Treatments available today due to DNA technology

Knowing the structure and function of DNA has also enabled us to develop breakthrough biotechnology solutions that have greatly improved the quality of life of countless individuals. A few examples include:

Genetic screenings for diseases. An individual can scan his or her DNA code to look for known mutations linked to disease. Newborns are often screened at birth to identify treatable genetic disorders. For instance, all newborns in the US are screened for a disease called severe combined immunodeficiency (SCID). Individuals with this genetic disease lack a fully functional immune system and usually die within a year, if not treated. However, due to regular screenings, these newborns can receive a bone marrow transplant, which has a more than 90% of success rate to treat SCID. A well-known example in adults is screening women for mutations in the BRCA1 and BRCA2 genes as risk factor for developing breast cancer or ovarian cancer.

Recombinant protein production. This technology allows scientists to introduce human genes into microorganisms to produce human proteins that can be introduced back to patients to carry out vital functions. In 1978, the company Genentech developed a process to recombinantly produce human insulin, a protein needed to regulate blood glucose. Recombinant insulin is still used to treat diabetes.

CAR T cells. CAR T cell therapy is a technique to help your immune system recognize and kill cancer cells. Immune cells, called T-cells, from a cancer patient are isolated and genetically engineered to express receptors that allow them to identify cancer cells. When these modified T cells are put back into the patient they can help find and kill the cancer cells. Kymriah, used to treat a type of leukemia, and Yescarta, used to treat a type of lymphoma are examples of FDA approved CAR T cell treatments.

Gene therapy. The goal of gene therapy is to replace a missing or defective gene with a normal one to correct the disorder. The first in vivo gene therapy drug, Luxterna, was approved by the FDA in 2017 to treat an inherited degenerative eye disease called Lebers congenital amaurosis.

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Frontiers in DNA technology

Our understanding of genetic data continues to lead to new and exciting technologies with the potential to revolutionize and improve our health outcomes. A few examples being developed are described below.

Organoids for drug screening. Organoids are miniature and simplified organs that can be developed outside the body with a defined genome. Organoid systems may one day be used to discover new drugs, tailor treatments to a particular persons disease or even as treatments themselves.

CRISPR-Cas9. This is a form of gene therapy - also known as genetic engineering - where the genome is cut at a desired location and existing genes can either be turned off or modified. Animal models have shown that this technique has great promise in the treatment of many hereditary diseases such as sickle cell disease, haemophilia, Huntingtons disease, and more.

We believe sequencing will become a mainstay in the future of human health.

While genomic data is incredibly insightful, it is important to realize, genomics rarely tells the complete story.

Except for rare cases, just because an individual has a particular genetic mutation does not mean they will develop a disease. Genomics provides information on what could happen to an individual. Additional datasets such the microbiome, metabolome, lifestyle data and others are needed to answer what will happen.

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Elizabeth ODay & Elizabeth Baca

The microbiome is sometimes referred to as the 'essential organ', the'forgotten organ', our 'second genome' or even our 'second brain'. It includes the catalog of approximately 10-100 trillion microbial cells (bacteria, archea, fungi, virus and eukaryotic microbes) and their genes that reside in each of us. Estimates suggest we have 150 times more microbial DNA from more than 10,000 different species of known bacteria than human DNA.

Microbes reside everywhere (mouth, stomach, intestinal tract, colon, skin, genitals, and possibly even the placenta). The function of the microbiome differs according to different locations in the body and with different ages, sexes, races and diets of the host. Bacteria in the gut digest foods, absorb nutrients, and produce beneficial products that would otherwise not be accessible. In the skin, microbes provide a physical barrier protecting against foreign pathogens through competitive exclusion, and production of antimicrobial substances. In addition, microbes help regulate and influence the immune system. When there is an imbalance in the microbiome, known as dysbiosis, disease can develop. Chronic diseases such as obesity, inflammatory bowel disease, diabetes mellitus, metabolic syndrome, atherosclerosis, alcoholic liver disease (ALD), nonalcoholic fatty liver disease (NAFLD), cirrhosis, hepatocellular carcinoma and other conditions are linked to improper microbiome functioning.

Milestones in our understanding of the microbiome

1680s - Dutch scientist Antonie van Leeuwenhoek compared his oral and fecal microbiota. He noted striking differences in microbes between these two habitats and also between samples from individuals in different states of health.

1885 - Theodor Escherich first describes and isolates Escherichia coli (E. coli) from the feces of newborns in Germany

1908 - Elie Metchnikoff, Russian zoologist, theorized health could be enhanced and senility delayed by bacteria found in yogurt

1959 - Germ-free animals (mice, rats, rabbits, guinea pigs, and chicks) reared in stainless steel in plastic housing to study the effects of health in microbe-free environments

1970 - Dr. Thomas D. Luckey estimates 100 billion colonies of microbes in one gram of human intestinal fluid or feces.

1995 - Craig Venter and a team of researchers sequence the genome of bacterium Haemophilus influenza, making it the first organism to have its genome completely sequenced.

1996 - The first human fecal sample is sequenced using 16S rRNA sequencing.

2001- Scientist Joshua Lederberg credited with coining term microbiome.

2005 - Researchers identify bacteria in amniotic fluid of babies born via C-section

2006- First metagenomic analysis of the human gut microbiome is conducted

2007- NIH sponsored Human Microbiome Project (HMP) launches a study to define how the microbial species affect humans and their relationships to health

2009- First microbiome study showing an association between gut microbiome in lean and obese adults

2011- German researchers identify 3 enterotypes in the human gut microbiome: Baceroids, Prevotella, and Ruminococcus

2011- Gosalbes performed the first metatransciptomic analysis of healthy human gut microbiota

2012 - HMP unveils first map of microbes inhabiting healthy humans. Results generated from 80 collaborating scientific institutions found more than 10,000 microbial species occupy the human ecosystem, comprising trillions of cells and making up 1-3% of the bodys mass.

2012 - American Gut Project founded, providing an open-to-the-public platform for citizen scientists seeking to analyze their microbiome and compare it to the microbiomes of others.

2014 - The Integrative Human Microbiome Project (iHMP), begins with goal of studying 3 microbiome-associated conditions.

2016 - The Flemish Gut Flora Project, one of the worlds largest population-wide studies on variations in gut microbiota publishes analysis on more than 1,100 human stool samples.

2018 - The American Gut Project publishes the largest study to date on the microbiome. The results include microbial sequence data from 15,096 samples provided by11,336 participants across the US, UK, Australia and 42 other countries.

What solutions are already (or could be) derived from this dataset?

Biotechnology solutions based off microbiome data have already been developed or are in the process of development. A few key examples are highlighted below:

Probiotics. Probiotics are beneficial bacteria that may prevent or treat certain disease. They were first theorized in 1908 and are now a common food additive. From yogurts to supplements, various probiotics are available for purchase in grocery stores and pharmacies, claiming various benefits. For example probiotic VSL#3 has been shown to reduce liver disease severity and hospitalization in patients with cirrhosis.

Diagnostics. Changes in composition of particular microbes are noted as potential biomarkers. An example includes the ratio of Bifidobacterium to Enterobacteriaceae know as the B/E ratio. A B/E greater than 1 suggests a healthy microbiome and a B/E less than 1 could suggest cirrhosis or particular types of infection.

Fecal Microbiome transplantation (FMT). Although not FDA-approved, fecal microbiome transplantation (FMT) is a widely used method where a fecal preparation from a healthy stool donor is transplanted into the colon of patient via colonoscopy, naso-enteric tube, or capsules. FMT has been used to treat Clostridium difficile infections with 80-90% cure rates (far better efficacy than antibiotics).

Therapeutics. The microbiome dataset is also producing several innovative therapies. Development of bacteria consortia and single strains (both natural and engineered) are in clinical development. Efforts are also underway to identify and isolate microbiome metabolites with important function, such as the methicillin-resistant antibiotics that were identified by primary sequencing of the human gut microbiome.

By continuing to build the microbiome dataset and expand our knowledge of host-microbiome interactions, we may be able correct various states of disease and improve human health.

Disclaimer: The authors above do not necessarily reflect the policies or positions of the organizations with which they are affiliated.

Pam Randhawa, CEO and founder of Empiriko Corporation, Andrew Steinberg, Watson Institute for International and Public Affairs, Brown University, Elizabeth Baca & Elizabeth ODay

For centuries, physicians were limited by the data they were able to obtain via external examination of an individual patient or an autopsy.

More recently, technological advancements have enabled clinicians to identify and monitor internal processes which were previously hidden within living patients.

One of the earliest examples of applied technology occurred in the 1890s when German physicist Wilhelm Rntgen discovered the potential medical applications of X-rays.

Since that time, new technologies have expanded clinical knowledge in imaging, genomics, biomarkers, response to medications, and the microbiome. Collectively, this extended database of high quality, granular information has enhanced the physicians diagnostic capabilities and has translated into improved clinical outcomes.

Todays clinicians increasingly rely on medical imaging and other technology- based diagnostic tools to non-invasively look below the surface to monitor treatment efficacy and screen for pathologic processes, often before clinical symptoms appear.

In addition, the clinicians senses can be extended by electronic data capture systems, IVRS, wearable devices, remote monitoring systems, sensors and iPhone applications. Despite access to this new technology, physicians continue to obtain a patients history in real-time followed by a hands-on assessment of physical findings, an approach which can be limited by communication barriers, time, and the physicians ability to gather or collate data.

One of the largest examples of clinical data collection, integration and analysis occurred in the 1940s with the National Heart Act which created the National Heart Institute and the Framingham Heart Study. The Framingham Original Cohort was started in 1948 with 5,209 men and women between the ages of 30-62 with no history of heart attack or stroke.

Over the next 71 years, the study evolved to gather clinical data for cardiovascular and other medical conditions over several generations. Prior to that time the concepts of preventive medicine and risk factors (a term coined by the Framingham study) were not part of the medical lexicon. The Framingham study enabled physicians to harness observations gathered from individuals physical examination findings, biomarkers, imaging and other physiologic data on a scale which was unparalleled.

The adoption of electronic medical records helped improve data access, but in their earliest iterations only partially addressed the challenges of data compartmentalization and interoperability (silos).

Recent advances in AI applications, EMR data structure and interoperability have enabled clinicians and researchers to improve their clinical decision making. However, accessibility, cost and delays in implementing global interoperability standards have limited data accessibility from disparate systems and have delayed introduction of EMRs in some segments of the medical community.

To this day, limited interoperability, the learning curve and costs associated with implementation are cited as major contributors to physician frustration, burnout and providers retiring early from patient care settings.

However, an interoperability platform known as Fast Healthcare Interoperability Resources (FHIR, pronounced "FIRE") is being developed to exchange electronic health records and unlock silos. The objective of FHIR is to facilitate interoperability between legacy health care systems. The platform facilitates easier access to health data on a variety of devices (e.g., computers, tablets, cell phones), and allows developers to provide medical applications which can be easily integrated into existing systems.

As the capacity to gather information becomes more meaningful, the collection, integration, analysis and format of clinical data submission requires standardization. In the late 1990s, the Clinical Data Interchange Standards Consortium (CDISC) was formed to develop and support global, platform-independent data standards which enable information system interoperability to improve medical research. Over the past several years, CDISC has developed several models to support the organization of clinical trial data.

Milestones in the discovery/development of clinical data and technologies

500BC - The world's first clinical trial recorded in the Book of Daniel in The Bible

1747 - Linds Scurvy trial which contained most characteristics of a controlled trial

1928 - American College of Surgeons sought to improve record standards in clinical settings

Read the rest here:
6 expert essays on the future of biotech - World Economic Forum

Incoming House Speaker Chris Sprowls had little trouble Thursday convincing members of a House health-care panel to approve legislation that would prohibit life-insurance, long-term care insurance and disability-insurance companies from using customers genetic information in changing, denying or canceling policies.

Florida would become the first state to have such a law if Sprowls proposal is ultimately passed by the Legislature and signed by Gov. Ron DeSantis.

Members of the House Health & Human Services Committee passed Sprowls bill (HB 1189) without any debate, and committee Chairman Ray Rodrigues, R-Estero, praised Sprowls for introducing the bill.

I think our privacy is important. And I think its equally important to be a visionary, to look forward and I'm happy that Florida is going to be the state that leads the way on this issue, Rodrigues said.

Insurance industry lobbyists, who opposed the measure, sat quietly, agreeing to waive their speaking time.

Curt Leonard, regional vice president for state relations for the American Council of Life Insurers, said his association had expressed concerns on the issue for the past two years.

Weve expressed our concerns with Speaker Sprowls and other interested parties on this issue going back to 2018. So theres no point in repeating the same things over and over again, in the interest of the committee's time, Leonard said. That being said, we do share the speaker-designates (Sprowls) concerns about privacy. I think it's a concern for everybody.

Hours before the committee considered the bill, supporters launched a website dubbed Protecting Our DNA and a Facebook page.

The website also includes a petition and animated digital video helping to explain the issue.

Sprowls told reporters after the meeting that the social media campaign was launched to educate the public.

I think most people, myself included up until a couple years ago, (werent) aware that if you had gotten a genetic test, that was something that your insurance company could get. I think when you tell people whove said they have 23andMe or who have had a genetic test in a clinical setting, whatever the reason, they had no idea that they have this massive liability by giving it to their insurance companies, he said. So its part about raising the awareness for people that its a danger and that this bill will help close the loophole and garner support. We want them to know about the bill. We want them to be educated on the topic.

In addition to preventing insurers from using the information in making policy decisions, Sprowls bill also would block the companies from requiring or soliciting genetic information from applicants.

Sprowls said insurance companies have for years been able to sell policies without having access to the genetic data.

Insurance carriers have been successful without access to genetic information. They have been able to provide affordable coverage to consumers without genetic information. Insurance is about spreading risk, not guaranteeing the outcomes or rewards to the (carriers). And affordable life, disability, and health insurance should not be available simply to the genetic elite, Sprowls said.

Florida Chief Financial Officer Jimmy Patronis, who helps oversee the insurance industry, also backs efforts to pass legislation. In a statement issued after the vote, Patronis, said "As DNA testing becomes more popular through companies like 23andMe and AncestryDNA, we must ensure that your genetic code is not used against you."

Federal law already prevents health insurers from using genetic information in underwriting policies and in setting premiums. But the prohibition doesnt apply to life insurance or long-term care coverage, which Sprowls described as a massive loophole.

Florida isnt the only state to look at the issue. California, New Jersey, and New York require insurers to get informed consent when requesting genetic testing for life or disability insurance, according to a Florida legislative staff analysis.

Also, Massachusetts prohibits unfair discrimination on the basis of genetic information or tests and prevents requiring applicants or existing policyholders to undergo genetic testing. In Arizona, life and disability insurance carriers are prohibited from using genetic information for underwriting or ratemaking unless supported by an applicants medical condition, medical history and either claims experience or actuarial projections.

Its unusual for incoming House speakers and Senate presidents to file bills under their names. But Sprowls, a cancer survivor, said its an honor to do so.

While Sprowls influence looms large in the House, he must convince the Florida Senate to go along. For that, Sprowls said he will look to Sen. Kelli Stargel, R-Lakeland, to spearhead the issue.

I leave the Senate in her capable hands, Sprowls said.

Senate President Bill Galvano, though, told The News Service of Florida that he supports a potential compromise on the issue.

Leonard said a compromise would authorize consumers to use their private information any way they want to. And that might include them wanting to share their genetic science or genetic testing information, he said. So we dont like the idea that consumers will be handcuffed in how they use that information.

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Bill to withhold genetic test information from insurance companies gains momentum in Florida - Orlando Weekly

Increasing public awareness and increasing amount of companies delivering Direct-To-Consumer Genetic Testing is expected to drive the market growth.Data Bridge Market Researchhas recently announced publishing of a report, titledGlobal Direct-to-Consumer (DTC) Genetic Testing Market Industry Trends and Forecast to 2026As per the report, Global direct-to-consumer (DTC) genetic testing market is set to witness a healthyCAGR of 18%in the forecast period of 2019-2026. The report contains data of the base year 2018 and historic year 2017. This research report covers the present scenario and the growth prospects of the global Direct-to-Consumer (DTC) Genetic Testing industry. The report also enlists several important factors share, size, growth, trends, global statistics, key manufacturers and 2026 forecast analysis.

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The report Global Direct-to-Consumer (DTC) Genetic Testing Market intends to provide cutting-edge market intelligence and help decision makers take sound investment evaluation. Also identifies and analyses the emerging trends along with major drivers, challenges, opportunities and entry strategies for various companies in the global Direct-to-Consumer (DTC) Genetic Testing Industry.

The report profiles some of the Leading Players in the global Direct-to-Consumer (DTC) Genetic Testing Market. These include:EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics, Inc., Quest Diagnostics Incorporated, Abacus Diagnostica Oy among others.

The report focusses on weaknesses and strengths of the global Direct-to-Consumer (DTC) Genetic Testing market with a competitive landscape that includes information on some market vendors. Information presented in the report is gathered from primary and secondary research methods. The report also presents recent trends and opportunities of the market helping players strive for the lions share in the market.

Explore Key Industry Insights In 60 Tables And 220 Figures From The 350 Pages Of Report,Global Direct-to-Consumer (DTC) Genetic Testing Market

The global Direct-to-Consumer (DTC) Genetic Testing market report covers scope and product overview to define key terms and offers detailed information about market dynamics to the readers. This is followed by a regional outlook and segmental analysis. The report also consists of the facts and key values of the global Direct-to-Consumer (DTC) Genetic Testing market, in terms of sales and volume, revenue and its growth rate.

One of the important factors in the global Direct-to-Consumer (DTC) Genetic Testing market report is competitive analysis. The report covers all of the key parameters, such as product innovation, market strategies of the key players, market share, revenue generation, the latest research and development and market experts views.

Segmentation: Global Direct-to-Consumer (DTC) Genetic Testing Market

By Service:Diagnostic Screening ,Prenatal ,Newborn Screening, Pre-Implantation Diagnosis, Relationship Testing.

By Test type:Carrier Testing ,Predictive Testing ,Ancestry & relationship Testing ,Nutrigenomics Testing ,Others.

By Technology:Targeted Analysis ,Single Nucleotide Polymorphism (SNP) Chips, Whole Genome Sequencing (WGS) ,By Product type, Ancestry, Health and Wellness, Entertainment,

By End User:Laboratories, Blood Banks, Nursing Homes, Hospitals, Imaging Centers, Home Care, Cosmetics, Others, By Sales Channel, Online Channel, Over the Counter Channel, Doctors Office

By Business Model

Competitive Analysis: Global Direct-to-Consumer (DTC) Genetic Testing Market

The global Direct-to-Consumer (DTC) Genetic Testing market is highly fragmented and the major players have used various strategies such as product (software) launches, agreements, joint ventures, partnerships, acquisitions, and others to increase their footprints in this market. The report includes market shares of Direct-to-Consumer (DTC) Genetic Testing market for global, Europe, North America, Asia Pacific and South America.

Primary Respondents

Demand Side: Doctors, Surgeons, Medical Consultants, Nurses, Hospital Buyers, Group Purchasing Organizations, Associations, Insurers, Medical Payers, Healthcare Authorities, Universities, Technological Writers, Scientists, Promoters, and Investors among others.

Supply Side: Product Managers, Marketing Managers, C-Level Executives, Distributors, Market Intelligence, and Regulatory Affairs Managers among others.

Key Developments in the Market:

In May 2019, MyHeritage Ltd. pronounce the launch of the MyHeritage DNA Health+Ancestry test, which gives new scopes of genetic awareness to enhance the life, enlighten the health further assists in leading a better life. It will also help the company to strengthen their genetic testing, clinical trial, and consulting capabilities in the areas of R&D providing accurate information about their genes.

In October 2018, 23andme, Inc. received the U.S. FDA approval for de novo technology, which is being operated in pharmacogenetics tests. Representing how consumers genetics may impact the way they break down certain medications. This approval will permit the company to introduce innovative and advanced products, thereby fostering companys growth.

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Research Methodology: Global Direct-to-Consumer (DTC) Genetic Testing Market

Data collection and base year analysis is done using data collection modules with large sample sizes. The market data is analysed and forecasted using market statistical and coherent models. Also market share analysis and key trend analysis are the major success factors in the market report. To know more please request an analyst call or can drop down your enquiry.

The key research methodology used by DBMR research team is data triangulation which involves data mining, analysis of the impact of data variables on the market, and primary (industry expert) validation. Apart from this, other data models include Vendor Positioning Grid, Market Time Line Analysis, Market Overview and Guide, Company Positioning Grid, Company Market Share Analysis, Standards of Measurement, Top to Bottom Analysis and Vendor Share Analysis. To know more about the research methodology, drop in an inquiry to speak to our industry experts.

Customization of the Report

All segmentation provided above in this report is represented at country level.

All products covered in the market, product volume and average selling prices will be included as customizable options which may incur no or minimal additional cost (depends on customization)

Table of Content:Global Direct-to-Consumer (DTC) Genetic Testing Market

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Original post:
Direct-to-Consumer (DTC) Genetic Testing Market 2020 Share Growing Rapidly with Recent Trends, Revenue, Top Players, Development, Demand and Forecast...

Cancer Research UK has announced that a new type of scan involving magnetising molecules could allow doctors to see in real-time which regions of a breast tumour are active.

According to research, which was funded by the UK organisation, carbon-13 hyperpolarised imaging can be used to monitor breast cancer.

Published in Proceedings of the National Academy of Sciences, the report shows that researchers tested the technique in seven patients from Adenbrookes Hospital with various types and grades of breast cancer before they had received any treatment.

They used the scan to measure how fast the patients tumours were metabolising a naturally occurring molecule called pyruvate, and were able to detect differences in the size, type and grade of tumours a measure of how fast growing, or aggressive the cancer is.

Professor Kevin Brindle, lead researcher from the Cancer Research UK Cambridge Institute, said that the results show one of the most detailed pictures of the metabolism of a patients breast cancer that weve ever been able to achieve. Its like we can see the tumour breathing.

He continued, Combining this with advances in genetic testing, this scan could in the future allow doctors to better tailor treatments to each individual, and detect whether patients are responding to treatments, like chemotherapy, earlier than is currently possible.

Breast cancer is the most common type of cancer in the UK, with around 55,000 new cases each year. 80% of people with breast cancer survive for 10 years or more, however for some subtypes, survival is much lower.

See the original post:
New scan could see active breast tumour regions in 'real-time' - PharmaTimes

About 150,000 new cases of epilepsy are confirmed in the U.S. each year. But the cause of epilepsy a neurological condition that causes seizures remains unknown for 6 out of 10 people.

Scientists suspect unidentified genetic factors are likely behind the epilepsy cases with unknown causes,according to theEpilepsy Foundation. Because the relationship between genes and seizures is complex, genetic testing is unavailable for many forms of epilepsy.

Additionally, the identified causes of epilepsy can vary by a person's age.For some, structural brain abnormalities including congenital conditions and injury-based changes spark seizures. For others, metabolic disorders, brain infections or immune-related changes cause epilepsy.

Despite the unknowns surrounding epilepsy's cause,scientists have identified ways to reduce the risk of developing it.

Anyone at any age can develop epilepsy. The marked characteristic of the disorder is the frequency of seizures. A person is diagnosed with epilepsy after they have had two or more of them.

A seizure occurs when there is a surge of electrical activity in the brain that can affect how a person looks or acts. The appearance of a seizure depend on the parts of the brain that are affected. Sometimes, a personwon't experience any noticeable symptoms during an episode.

There are generally three stages of a seizure, but not every victims experiences all three.

For some, the first symptom is an aura sensory or visual impairment. The heart of the electrical activity occurs during the middle, or ictal, phase. During this phase a person may have trouble talking or moving and experience tremors, muscle spasms or convulsions. Some people even have out of body sensations.

The third phase, known as the postictal phase, is the recovery period. It can take anywhere from a few minutes to a few hours to bounce back from a seizure.

The most common types of seizures that affect both sides of the brain are petit mal and grand mal seizures.

During a petit mal seizure, a person experiences more minor symptoms, like rapid blinking or spacing out for a few moments. But during a grand mal, the victim may lose consciousness and collapse to the ground.

People with epilepsy may be diagnosed with a particular syndrome based on certain features, like the type of seizure, cause and their age at initial onset. For example, Doose Syndrome occurs mostly in boys and has an initial onset in early childhood. It can be difficult to control with medication.

There is no cure for epilepsy, but medication can help control the seizures. Most people living with epilepsy can engage in their normal activities as long as their seizures remain under control.In the case of more severe, uncontrollable seizures, a doctor may recommend surgery.

Uncontrollable seizures can cause development issues in children and prevent adults from being able to drive and maintain a job.

Epileptic seizures also can be fatal.The Centers for Disease Control and Prevention reports that there are approximately 1.16 cases of sudden unexpected death per 1,000 people withepilepsy each year.

Though there are a lot unknowns regarding the causes of epilepsy, the CDC and the Mayo Clinic suggest various recommendations toreduce risk:

The rest is here:
The causes of epilepsy are not always clear, but there are ways to treat and prevent it - PhillyVoice.com

20 January 2020

Researchers testing a new way to harvest embryosfor genetic screening have been criticised for payingwomen in Mexico to be inseminated.

The study, published online in Human Reproduction, involved 81 women at a hospital near Puerto Vallarta, Mexico. Each participant was paid about $1400 to be artificially inseminated and subsequentlyto undergo a procedure where the embryos were flushed from the womb and analysed for research.

Lead investigator Dr Santiago Munnsuggests the new method could offer a simpler, less expensive way to assure a healthy child for couples with high risk for passing on genetic disease, such as beta-thalassemia or cystic fibrosis.

'The advantage is that these embryos are conceived naturally, so you don't need in vitro fertilisation (IVF) to do the genetic testing of the embryos. In theory, it should be much cheaper,' Dr Munn said.

As a first step, the participants received hormone injections to stimulate their ovaries' eggproduction a standard way to increase the number ofeggs obtained in fertility treatments.

Unlike IVF, the eggs weren't extracted before fertilisation in the lab, instead fertilisation was achieved in vivo by means of insemination with donor sperm. Four to six days later, the resulting embryos were flushed out using a mechanical procedure called 'lavage' and analysed,comparing them to embryos produced via IVF.

Theresearch has been calledunethical by critics.

'What this essentially does is use a woman's body as a petri dish, and there's something about that that seems so profoundly disturbing,' Dr Laurie Zoloth,a bioethicist from the University of Chicago, told NPR.

Other issues include the payment participants received, equal to more than two month's average salary in the area, which might become coercive to participants living on the poverty line.

The study also posedhealth risks to the participating women, who received intensive hormone stimulation. In some cases the lavage did not remove all the embryos, making terminations necessary.

Editor-in-chief of Human Reproduction, Professor Lambalk, told NPR that after verifying that the research had been thoroughly reviewed, they decided to publish the study along with an editorial and a commentary to draw attention to the ethical issues it raised.

In response to the criticism, Dr Munn referred to the extensive review and subsequent approval by the Ministry of Health of the State of Nayarit, Mexico, and the Western Institutional Review Board in the United States. Furthermore, he noted that the women were fully informed ofrisks associated with participation.

Embryos produced in the study have been frozen to be used by couples experiencing infertility and have been used to produce at least five pregnancies and three, thus far, healthy babies.

More here:
Embryo research to reduce the need for in vitro fertilization raises ethical concerns - BioNews

The Global Direct-to-Consumer (DTC) Genetic Testing Market study with 100+ market data Tables, Pie Chat, Graphs & Figures is now released by Data Bridge Market Research. The report presents a complete assessment of the Market covering future trend, current growth factors, attentive opinions, facts, and industry validated market data forecast till 2026. Delivering the key insights pertaining to this industry, the report provides an in-depth analysis of the latest trends, present and future business scenario, market size and share of Major Players such as EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics.

Global direct-to-consumer (DTC) genetic testing market is set to witness a healthy CAGR of 18% in the forecast period of 2019-2026.

Avail 20% Discount on Buying This Report: Get a Free Sample Copy of the Report @ (Use Corporate email ID to Get Higher Priority): https://www.databridgemarketresearch.com/request-a-sample/?dbmr=global-direct-to-consumer-dtc-genetic-testing-market&BloomBerg

Market Dynamics:

Set of qualitative information that includes PESTEL Analysis, PORTER Five Forces Model, Value Chain Analysis and Macro Economic factors, Regulatory Framework along with Industry Background and Overview.

Global Direct-to-Consumer (DTC) Genetic Testing Research Methodology

Data Bridge Market Research presents a detailed picture of the market by way of study, synthesis, and summation of data from multiple sources. The data thus presented is comprehensive, reliable, and the result of extensive research, both primary and secondary. The analysts have presented the various facets of the market with a particular focus on identifying the key industry influencers.

Major Drivers and Restraints of the Direct-to-Consumer (DTC) Genetic Testing Industry

Market Drivers

High ageing population and growing prevalence of genetic diseases will boost this market growth

Growing customer awareness about the DTC genetic testing acts as a market driver

Tests are effortlessly accessible to the customers around the world; this factor acts as a major market driver

Market Restraints

High charges of DTC genetic testing kits can hamper the growth of this market

Lack of skilled and trained professional is another factor restraining the growth of the market

Scientific, technical and clinical issues along with fidelity to facts and truth-in-advertising can also act as restraining factor for the growth of this market

Complete report is available @ https://www.databridgemarketresearch.com/toc/?dbmr=global-direct-to-consumer-dtc-genetic-testing-market&BloomBerg

For an excellent outcome of Direct-to-Consumer (DTC) Genetic Testing report, qualitative and transparent research studies are carried out devotedly for the specific niche. Being a global market research report, it also identifies, analyses, and estimates the emerging trends along with major drivers, challenges and opportunities in the industry and analysis of vendors, geographical regions, types, and applications. An idea about competitive landscape plays very important role in deciding about the improvements required in the product and more. As businesses can achieve thorough insights with this report, they can confidently take decisions about their production and marketing strategies.

The titled segments and sub-section of the market are illuminated below:

Region Included are: United States, Europe, China, Japan, Southeast Asia, India & Central & South America

By Service: Diagnostic Screening, Prenatal, Newborn Screening, Pre-Implantation Diagnosis

By Product Type: Ancestry, Health and Wellness, Entertainment

By Business Model: Genome Data Bank Material Model, Individual Health Planning Model

Top Players in the Market are: EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics.

How will the report help new companies to plan their investments in the Direct-to-Consumer (DTC) Genetic Testing market?

The Direct-to-Consumer (DTC) Genetic Testing market research report classifies the competitive spectrum of this industry in elaborate detail. The study claims that the competitive reach spans the companies of .

The report also mentions about the details such as the overall remuneration, product sales figures, pricing trends, gross margins, etc.

Information about the sales & distribution area alongside the details of the company, such as company overview, buyer portfolio, product specifications, etc., are provided in the study.

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Some of the Major Highlights of TOC covers:

Chapter 1: Methodology & Scope

Definition and forecast parameters

Methodology and forecast parameters

Data Sources

Chapter 2: Executive Summary

Business trends

Regional trends

Product trends

End-use trends

Chapter 3: Direct-to-Consumer (DTC) Genetic Testing Industry Insights

Industry segmentation

Industry landscape

Vendor matrix

Technological and innovation landscape

Chapter 4: Direct-to-Consumer (DTC) Genetic Testing Market, By Region

Chapter 5: Company Profile

Business Overview

Financial Data

Product Landscape

Strategic Outlook

SWOT Analysis

Thanks for reading this article, you can also get individual chapter wise section or region wise report version like North America, Europe or Asia.

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Direct-to-Consumer (DTC) Genetic Testing Market Astonishing Growth| EasyDNA, Ancestry, 23andMe, Gene by Gene - Fusion Science Academy

Health technology and precision genomics company Color has raised $75 million in a series D funding round led by T. Rowe Funds andViking Global Investors.

TheBurlingame, California-based company counts Apple, Verily, Northshore University HealthSystem,the Teamsters Health and Welfare Fund of Philadelphia and Vicinity, and now Sanford Health among its partners.

Color has raised $150 million in financing to date, according to Color spokesman Ben Kobren. Kobren said the value of the company's contracts has grown significantly in the past year,and the company has expanded its margins. The recently raised funds will help Colorscale its infrastructure.

Color was recently named one of FierceHealthcare's Fierce 15 2020 award winners.

In 2019 alone, Color announced a slew of new partnerships, including withthe Teamsters Health and Welfare Fund of Philadelphia and Vicinityto provide access to Color's clinical-grade genomic services to about 14,000 members of their regional unions.

Color also is teaming up with Ochsner Health System on a first-of-its-kind, fully digital population health pilot program that integrates clinical genomics intostandard care.

The company is expanding its partnerships with healthcare systems looking to integrate genetic testing into the primary care setting. This week, the company announced that it had met its goal of enrolling 10,000 patients into the DNA-10K programa year after launching itwith NorthShore University Health System.

RELATED:Ochsner Health System teaming up with Color to integrate genetic information into preventive care

At the38th J.P.Morgan Healthcare Conference in San Francisco this week, Color also announced that it is working with Sanford Health, the nations largest rural not-for-profit healthcare system,to build on its Imagenetics genomics program. The Imagenetics program, which began in 2014, allows Sanford Health to embed genetic medicine directly into primary care.

Through that partnership, Sanford Healthphysicians willhave further access insights to enhance clinical decision-making. Sanford also will implement Colors digital tools to engage patients, increase adoption and streamline clinical reporting across Sanford Health's locations in North Dakota, South Dakota and Minnesota, the organizations said.

The NIH All of Us Research Program awardedColora $4.6 million grant to act as the initiatives nationwide genetic counseling service. It expanded onColors existing genotyping of patient samples as part of the program.

"In the last 18 months, we saw a huge acceleration with institutions around the world and across every type of player in the health ecosystemwhether its hospitals or health systems, large-scale research programs, payers, care delivery, employerswho want to change the care delivery model for their population by understanding genetics across the population,"Caroline Savello, vice president of commercial for Color,told FierceHealthcare.

More here:
JPM20: Health technology company Color scores $75M funding round to scale its infrastructure - FierceHealthcare