Sekar Kathiresan, MD Credit: Verve Therapeutics

Verve Therapeutics announced it would be halting enrollment in its Heart-1 trial following an adverse event in the trials 6th patient dosed with VERVE-101 0.45 mg/kg dose and subsequent consultation with the independent data safety and monitoring Board.

Announced by Verve Therapeutics on April 2, 2024, the press release indicates the patient experienced a Grade 3 drug-induced transient increase in ALT a d a Grade 3 drug-induced thrombocytopenia within the first 4 days after dosing with the 0.45 mg/kg dose of VERVE-101. A decision that comes less than 5 months after the phase 1b trial stole headlines alongside SELECT and other late-breakers at the American Heart Associations Scientific Sessions 2023, the company now intends to prioritize the development of VERVE-102 and the initiation of the Heart-2 clinical trial.1,2

The Heart-1 study continues to support proof-of-concept forin vivobase editing of thePCSK9gene in the liver, with a meaningful and durable lowering of LDL-C, said Sekar Kathiresan, MD, co-founder and chief executive officer of Verve Therapeutics.1 However, at potentially therapeutic dose levels of VERVE-101, we have observed certain asymptomatic laboratory abnormalities, which we believe are attributable to the LNP delivery system. The safety of patients in our clinical trials is of the utmost importance. We plan to further investigate the laboratory abnormalities observed in the Heart-1 study in order to inform the next steps for VERVE-101.

At AHA 2023, Andrew Bellinger, MD, PhD, chief scientific officer of Verve Therapeutics, presented interim data from the heart-1 trial. A first-in-human trial of patients with heterozygous familial hypercholesterolemia (HeFH), Bellinger presented data from 10 participants across 4 dose cohorts: 0.1 mg/kg (n = 3), 0.3 mg/kg (n = 3), 0.45 mg/kg (n = 3), and 0.6 mg/kg (n = 1). With a data cutoff of October 16, 2023, results of the trial pointed to an LDL-C reduction of 55% with just a single treatment at the greatest dose.2

In their April 02, 2024 announcement, Verve Therapeutics underlined all safety events were reported to regulatory agencies in the US, New Zealand, and the UK. The company pointed out theInvestigational New Drug Application and other CTAs for VERVE-101 remain active at this time.1

Of note, the patient did not experience any bleeding or other symptoms related to the aforementioned abnormalities and the abnormalities full resolved within a few days.1

Like VERVE-101, VERVE-102 leverages a the same base editor and guide RNA for PCSK9, but uses a different lipid nanoparticle delivery system. Verve Therapeutics highlighted 2 key differences in the therapies in their release:1

Verve Therapeutics highlighted receipt of regulatory clearances for the Heart-2 trial, which will include patients with HeFH or premature coronary artery disease, in the UK and Canada, with plans to launch the trial in Q2 2024.1

At this time, we are prioritizing the initiation of the Heart-2 clinical trial of VERVE-102 due to its proximity to the clinic and its use of a different LNP that incorporates an ionizable lipid which has been well-tolerated in third-party clinical trials, Kathiresan said.1 We are grateful to our study participants and to our investigators, who share our belief in the promise of single-course gene editing medicines for the treatment of cardiovascular disease. We look forward to initiating the Heart-2 trial in the second quarter of this year.

References:

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Verve Therapeutics Halts Enrollment of Heart-1 PCSK9 Gene Therapy Trial - MD Magazine

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Researchers have shown that dangerous cysts, which form over time in polycystic kidney disease (PKD), can be prevented by a single normal copy of a defective gene. This means the potential exists that scientists could one day tailor a gene therapy to treat the disease. They also discovered that a type of drug, known as a glycoside, can sidestep the effects of the defective gene in PKD. The discoveries could set the stage for new therapeutic approaches to treating PKD, which affects millions worldwide. The study, partially funded by the National Institutes of Health (NIH), is published in Cell Stem Cell.

Scientists used gene editing and 3-D human cell models known as organoids to study the genetics of PKD, which is a life-threatening, inherited kidney disorder in which a gene defect causes microscopic tubes in the kidneys to expand like water balloons, forming cysts over decades. The cysts can crowd out healthy tissue, leading to kidney function problems and kidney failure. Most people with PKD are born with one healthy gene copy and one defective gene copy in their cells.

Human PKD has been so difficult to study because cysts take years and decades to form. This new platform finally gives us a model to study the genetics of the disease and hopefully start to provide answers to the millions affected by this disease."

Benjamin Freedman, Ph.D., senior study authorat the University of Washington, Seattle

To better understand the genetic reasons cysts form in PKD, Freedman and his colleagues sought to determine if 3-D human mini-kidney organoids with one normal gene copy and one defective copy would form cysts. They grew organoids, which can mimic features of an organ's structure and function, from induced pluripotent stem cells, which can become any kind of cell in the body.

To generate organoids containing clinically relevant mutations, the researchers used a gene editing technique called base editing to create mutations in certain locations on the PKD1 and PKD2 genes in human stem cells. They focused on four types of mutations in these genes that are known to cause PKD by disrupting the production of polycystin protein. Disruptions in two types of the protein polycystin-1 and polycystin-2 are associated with the most severe forms of PKD.

They then compared cells with two gene copy mutations in organoids to cells with only one gene copy mutation. In some cases, they also used gene editing to correct mutations in one of the two gene copies to see how this affected cyst formation. They found organoids with two defective gene copies always produced cysts and those that carried one good gene copy and one bad copy did not form cysts.

"We didn't know if having a gene mutation in only one gene copy is enough to cause PKD, or if a second factor, such as another mutation or acute kidney injury was necessary," Freedman said. "It's unclear what such a trigger would look like, and until now, we haven't had a good experimental model for human PKD."

According to Freedman, the cells with one healthy gene copy make only half the normal amount of polycystin-1 or polycystin-2, but that was sufficient to prevent cysts from developing. He added that the results suggest the need for a second trigger and that preventing that second hit might be able to prevent the disease.

The organoid models also provided the first opportunity to study the effectiveness of a class of drugs known as eukaryotic ribosomal selective glycoside on PKD cyst formation.

"These compounds will only work on single base pair mutations, which are commonly seen in PKD patients," explained Freedman. "They wouldn't be expected to work on any mouse models and didn't work in our previous organoid models of PKD. We needed to create that type of mutation in an experimental model to test the drugs."

Freedman's team found that the drugs could restore the ability of genes to make polycystin, increasing the levels of polycystin-1 to 50% and preventing cysts from forming. Even after cysts had formed, adding the drugs slowed their growth.

Freedman suggested that a next step would be to test existing glycoside drugs in patients. Researchers also could explore the use of gene therapy as a treatment for PKD.

The research was supported by NIH's Nation Center for Advancing Translational Sciences, National Institute of Diabetes and Digestive and Kidney Diseases, and National Institute of General Medical Sciences through awards R01DK117914, UH3TR002158, UH3TR003288, U01DK127553, U01AI176460, U2CTR004867, UC2DK126006, P30DK089507, R21DK128638, and R35GM142902; an Eloxx Pharmaceuticals Award; the Lara Nowak-Macklin Research Fund; and a Washington Research Foundation fellowship.

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Journal reference:

Vishy, C. E.,et al.(2024) Genetics of cystogenesis in base-edited human organoids reveal therapeutic strategies for polycystic kidney disease. Cell Stem Cell. doi.org/10.1016/j.stem.2024.03.005.

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Menopause is a natural part of aging that marks the end of the female reproductive years but many people dont know what to expect until theyre in the midst of it. Did you know, for example, that you could experience symptoms up to a decade before menopause actually begins?

Menopause specialistPelin Batur, MD, walks us through the stages of menopause and what you may be able to expect during each one.

The menopause process is all about hormones. Your body begins to produce less of the hormone calledestrogen, which regulates your menstrual cycle, and your ovaries start running low on eggs. But it doesnt happen all at once.

Heres a quick overview of the three stages of menopause:

Dr. Batur explains each stage in greater detail, including the symptoms you might experience andhow to find relief.

You can think about perimenopause as the runway to the big event. It can start as early as a decade before menopause, though the average amount of time spent in perimenopause is four years.

During this time, your body is, little by little, winding down its naturalovulation process. The most common sign of perimenopause isirregular periods and menstrual cycles.

As your estrogen levels start to decrease, your periods and menstrual cycles may start getting a little wonky sometimes, closer together, sometimes skipping cycles, Dr. Batur explains. You may also have some of the typical menopausal symptoms.

Not everyone experiences noticeable symptoms during perimenopause, but they can include:

There are two stages to perimenopause early menopause transition and late menopause transition though theyre not always cut-and-dry and distinguishable from one another.

This first stage of perimenopause is the very beginning when your body is just starting to experience hormonal changes. During this time, your periods and menstrual cycles are still coming regularly, but you may notice other symptoms:

This is a natural phase of life, so if your symptoms are mild, you may be able to make do with lifestyle changes like getting more sleep and upping your cardio, Dr. Batur says. But if theyre really bothersome, speak to your healthcare provider, even if youre still having regular menstrual cycles.

The late menopause transition is when youre gettinga little closer to menopause. Youre more likely to start experiencing irregular periods and menstrual cycles.

During perimenopause, youre not ovulating as regularly, Dr. Batur says. You have up-and-down levels of estrogen, and you may not make progesterone as consistently, so you may skip a menstrual cycle and then have heavy bleeding during the next period because your uterine lining has thickened up from the impact of the estrogen.

Eventually, as you get closer and closer to menopause, you start skipping periods for months at a time, she continues.

If this happens, bring it up with your healthcare provider especially if youre in your early 40s or younger, which can be a sign ofpremature menopauseor a condition calledprimary ovarian insufficiency.

When youve gone a full 12 months without having your period, youve entered menopause (assuming you havent stopped bleeding because of another medical condition or a medication).

That typically happens around age 52, Dr. Batur shares, and then, you live the rest of your life in menopause, where youre no longer ovulating and you no longer have the ability to bear children.

Menopause symptoms typically last for seven to 10 years (though your timeframe may vary), and they can range from mild to severe. If youre in the latter camp, experiencing bothersome symptoms that you just cant shake, dont feel like you have to soldier on in silence.

Just saying, grin and bear it and eat healthier and lose some weight doesnt cut it for people who are really suffering during this time in their lives, Dr. Batur states. Your healthcare provider will also want to make sure that your symptoms arent related to other medical conditions.

Once you enter menopause, youre in menopause for the rest of your life; this is also called the postmenopause stage.

But now, youre at a higher risk for other health concerns. A decrease in estrogen is a risk factor in conditions like:

The older you get, the more tuned in your healthcare provider should be to menopauses impact on your health. But if theyre not bringing it up, you definitely should even if youre feeling fine, but especially if youre not.

The stages of menopause shouldnt make you feel miserable. If your symptoms are especially bothersome and having an impact on your quality of life, its time to ask for help.

Tell your Ob/Gyn or your primary care doctor, Hey listen, I think my hormones are going haywire, Dr. Batur advises. They can talk you through the options, which may include any of the following (or a combination of them):

Just remember: Theres no quick fix for the symptoms of menopause. If you raise concerns about themduring an annual visit, your healthcare provider may ask you to come back for another appointment so the two of you can go more in-depth about what youre experiencing and thats OK.

This is a very individual thing, and it can be very complicated, especially depending on your medical history, Dr. Batur says. Schedule another appointment, if you need it, and make sure your concerns are being addressed during dedicated time with your provider.

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The GenderGP Appraisal Pathway

This is a pathway designed by GenderGP which allows you to be in charge of your gender journey.

We believe that you are the expert in your gender, and by offering our expertise in healthcare, we can make sure that your medical transition is suited to what you need and is delivered in the safest way possible.

By going through this process you will be able to provide us with information about you and your health and your gender feelings. This will allow us to come to a joint agreement on the best treatment for you.

If you are in the UK or the EU, we can use our private prescription service. If you are outside the EU then we will carry out any necessary assessments and then issue you with a Treatment Summary for your provider so they can do blood testing and prescribe under our direct supervision.

We will make all the decisions on medication and blood results to keep you safe.

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Hoxa9 and b-catenin molecules are a rare population of self-renewing HSCs found in bone marrow

Researchers from Kings College Londons (KCL) Comprehensive Cancer Centre have identified a key mechanism that governs how bone marrow stem cells work, which could potentially lead to new therapeutic pathways.

The findings from the study will help researchers further understand the key principles involved in stem cell biology and could provide new avenues for the development of efficient stem cell therapeutics.

Researchers identified two molecules, Hoxa9 and b-catenin, that control when bone marrow stem cells rest and recover, as well as when they act and replicate.

Both molecules work together to control a rare population of self-renewing stem cells that are predominantly found in bone marrow, known as haematopoietic stem cells (HSCs).

HSCs are protected from environmental stressors and prevent exhaustion by resting, while inactive HSCs must become active again, replicating themselves by turning into different blood cells, including red blood cells, white blood cells and platelets, to replenish the blood system and respond to problems including infections, blood loss and other complications.

Researchers discovered that this active/inactive characteristic of HSCs plays a key role in bone marrow transplantation, a vital procedure for several diseases, including cancer, as it is critical for cancer stem cells, which sustain the disease and cause relapse.

Researchers suggest that understanding this process will be vital when designing better treatments.

In addition, the team identified a critical enzyme known as PRMT1, which mediates the functions of the two molecules, offering a potential new avenue for the development of efficient stem cell therapeutics.

Eric So, professor and chair in Leukaemia Biology, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, KCL and study lead, commented: Given the critical functions of stem cells in bone marrow transplant and cancer biology, [the] identification of a new druggable pathway not only will help to better understand the stem cell biology but also facilitates the development of more effective therapeutics in the future.

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A new study found that Alzheimers could potentially be accelerated by bone marrow transplants from donors with the disease.

On Thursday, a group of researchers from the University of British Columbia in Canada published a study in the scientific journal Stem Cell Reports that found that lab mice that received bone marrow transplants from other mice that had a protein associated with Alzheimer's experienced rapid cognitive decline.

The study, researchers said, could help scientists start to pinpoint what exactly contributes to Alzheimer's and other types of cognitive decline especially because so much is unknown about Alzheimer's, including whether it's caused by the brain or by genetic or environmental factors.

"This supports the idea that Alzheimers is a systemic disease where amyloids that are expressed outside of the brain contribute to central nervous system pathology," Wilfred Jefferies, an immunologist and an author on the study, told Neuroscience News.

As we continue to explore this mechanism, Alzheimers disease may be the tip of the iceberg and we need to have far better controls and screening of the donors used in blood, organ and tissue transplants as well as in the transfers of human-derived stem cells or blood products," Jefferies added.

In the study, the researchers used both healthy mice and mice showing signs of Alzheimer's disease, and transplanted bone marrow to them from mice with a hereditary form of Alzheimer's. The healthy mice began developing signs of Alzheimer's at 9 months old, and the mice that already had the Alzheimer's protein began to experience cognitive decline at 6 months old.

"The fact that we could see significant behavioral differences and cognitive decline in the APP-knockouts at 6 months was surprising but also intriguing because it just showed the appearance of the disease that was being accelerated after being transferred," the study's first author, Chaahat Singh, told Neuroscience News.

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The University of British Columbia researchers wrote that bone marrow and other medical donors should be screened for Alzheimer's before they are able to give a transfusion.

However, several other scientists who spoke with Medscape warned that the risk of a human receiving Alzheimer's via a bone marrow or stem cell transfer is very low.

Paul Morgan, a dementia researcher at Cardiff University in the United Kingdom, told the scientific outlet that the study involved a "very specific experimental situation," and that it is a "gargantuan leap" to say that there is a significant risk in humans for spreading Alzheimer's through transplants.

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Adam Christman, DVM, MBA: Once we have the Embark DNA testing going on, what does that look like from a CSR perspective, a technician, and a generalist?

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: Absolutely, so we have a couple of different options with our Embark clinic testing. So the first option is you can carry the tests in clinic. You can buy them in bulk packs, do the swab right there in the exam room, and send it off. The results will go back to the veterinarian first so they have a chance to review those results and then those can be released to the client. That's option one.

Option two, for folks who maybe don't have a lot of inventory space, would be our recommend and review program. Essentially, the client orders through our website through a special QR code. They get a little bit of a discount on their test purchase and then once that results comes back, they go to the veterinarian and the client at the same time. The veterinarian's experience as far as the very detailed reporting and the support with me is not different, but the client will get the result at the same time. So just two different options for the testing.

As far as how we've seen this work best in clinics is it is very, very, very helpful to assign a genetics champion to be the one to have that initial conversation about the benefits of genetic testing with your clients. And typically that is a technician or another interested staff member. Embark will absolutely support training that person. We offer lunch and learns to get all the clinic staff kind of up to speed on what the testing looks like, how to have those initial conversations.

Adam Christman, DVM, MBA: I wanna talk about our educational school and that school with genetics. I'm curious to get your thoughts on where we should be going in the next five to 10 years with genetic counseling and understanding for the new graduates that are coming out of school.

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: Typically we don't get much genetics education in either vet or tech schools. So typically whenever I speak, I always tell people, hey, you're gonna be reaching back to your high school biology. We're gonna be talking about Mendel's peas today. So I think that there is definitely an opportunity. I would say just doing like a brief review of the modes of inheritance, which is the way that a variant is passed on to the next generation, would be really, really helpful if we had that kind of again in vet school. Then, using some examples with either breeding dogs and how to smartly pair them, or with personalized medicine and individual dogs who may be at risk for genetic diseases.

Adam Christman, DVM, MBA: I think the new graduates know about this. They're excited about it, but I think they're just learning so much through mentorship and trying to get their communication under control. But I do think that this is a great opportunity for a mentorship opportunity for hospitals to teach the new grads. This is what we should do moving forward, right?

Lindsey Kock, DVM: Yeah, absolutely. I think one thing to maybe be cautious of not getting too bogged down in is, there's over 350 some odd different variants that we know of in the world of dogs. So I think if you come at it from the perspective of like, "Oh my gosh, I got to know all of the details about all of these disorders, there's a new one coming out every week, right, that may only affect a certain subpopulation or a certain breed of dog.

And so I think the recommendation to really focus on inheritance, is huge because it helps you interpret the results for the pet parent. And then making sure that when you do testing, you do it from a reputable lab that lets you know what the inheritance is as well, right? And it tells you what actual marker they're looking at, because that is also important in the interpretation of those results.

Adam Christman, DVM, MBA: The fact that you can talk to somebody at Embark to go over these results, I was just going to mention that. Because I know that you feel inundated if you get these results, but it's almost as if going through a ClinPath case when you're calling your reference lab, you want to walk through some of the differentials. So it's important. I'm sure you must get quite a few phone calls with that.

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: Absolutely. I talk to veterinarians all day long helping them interpret their results and then again as a theriogenologist, I'm definitely able to help with the breeder clients as well.

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Behind the science - DVM 360

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Chinas genetic testing market is growing quickly, as are the claims being made by companies operating in the industry.

While vendors tout the technologys ability to save lives and help us understand risk, experts say that greater regulation is needed to protect the public.

Before 2014, Chinas genetic testing services were unregulated. That year, related laws and regulations were introduced and the sector was included in the 13th Five-Year Plan.

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Weekend Long Read: Debunking the Genetic Testing Hype - Caixin Global

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Breed is a surprisingly complicated question, says Halie Rando, an assistant professor of computer science at Smith College who led the research. A dogs genetics may point to one breed, she says. But widely accepted breed definitions were defined in a time before DNA analysis, and Rando says that genetic testing can sometimes clash with pet owners preconceived notions about their dogs.

Even experienced humans, it turns out, are terrible at identifying breed by sight: In a recent study of 459 shelter dogs at two humane societies in Arizona and California, DNA analysis pinpointed found 125 distinct breeds, including five percent that were purebred. Nonetheless, neither the scientists nor the experienced shelter workers were able to reliably identify mixed-breed dogs, which made up nearly 90 percent of the canine cohort.

Mixed breeds can prove tricky even with DNA dataand since genetic testing relies on information about the genes of dogs with identifiable breeds, a DNA test is only as good as its genetic dataset.

As a consumer, you might value a company that is more transparent and has a diverse [DNA] panel, says Greene. He encourages consumers to do their research before submitting a sampleand double-check that the panel used by the testing company includes the breeds you suspect might be in the mix.

Even if you do get accurate information about your dogs breed, it might not be as linked to its behavior as you might think. A 2022 genetic analysis of more than 2,000 purebred and mixed-breed dogs found behavior was linked more closely to individual dogs than breeds, concluding that dog breed is generally a poor predictor of individual behavior.

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Dog DNA tests are on the risebut are they reliable? - National Geographic

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SAN DIEGO, April 3, 2024 /PRNewswire/ -- Leading commercial organizations and patient advocacy groups in the field of cancer genetics today announced the founding of the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT), a coalition whose mission is to increase evidence-based access to genetic testing for people with or at risk of hereditary cancers.

Founding laboratory members include organizer Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, and Quest Diagnostics. Volpara Health has also recently joined the coalition. Founding patient advocacy organization members include AliveAndKickn and FORCE. The coalition seeks to provide a collective voice in support of the progression of medical professional and industry guidelines for genetic testing for inherited mutations that increase cancer risk.

With growing insight into the role of genetic testing in cancer risk management and treatment, the population of individuals who benefit from knowing their genetic mutation status continues to increase. As leaders in the genetic testing and hereditary cancer field, the founding members believe it is their responsibility to help drive awareness and inform changes that will equalize access for those whose outcomes could benefit most from testing.

One of the primary objectives of INTERACT is to ensure policy and guidelines keep pace with the growing body of evidence surrounding inherited cancer risk.

Hereditary cancer genetic testing has been shown to improve outcomes by identifying those most at risk and informing management strategies. For instance, patients who test positive for a BRCA1 or BRCA2 mutation have up to 87% lifetime risk for breast cancer, and up to 40% lifetime risk for ovarian cancer.1,2 In addition, there are numerous other genes that increase risk for various forms of cancer. Armed with this information, patients and physicians can improve management through increased surveillance, chemoprevention, targeted therapeutics or risk-reducing surgical measures. As an example, studies have shown that prophylactic mastectomy in BRCA1/2 mutation carriers results in up to a 97% reduction in the risk for contralateral breast cancer, while salpingo-oophorectomy reduced ovarian cancer incidence by 69-100%.1,2

Despite the benefits of a patient and their provider knowing mutation status, disparities in access and uptake of cancer genetics services are well documented.3 INTERACT intends to improve access to genetic testing, with the goal of reaching vulnerable populations who may not currently be aware of their risk or their need for increased screening or other interventions.

"With Lynch syndrome, one of the most common hereditary cancer syndromes, patients have up to 80% lifetime risk for colorectal cancer4, but an estimated 95% of at-risk individuals have not been identified5," said Robin Dubin, Executive Director of AliveAndKickn. "To really improve survival rates with informed screening strategies, we need to help drive education and policies that support genetic testing for all those at risk."

Among the challenges to broadening access to genetic testing for hereditary cancer risk is a time lag in updating guidelines and medical policies after the publication of new medical literature. INTERACT will work to bring these differences to the attention of guideline committees and medical professional societies in an effort to bridge the gaps and reduce disparities in access to appropriate testing nationwide.

About INTERACT The mission of INTERACT is to bring together specialized genetic testing laboratories and patient advocacy groups to support the progression and evolution of medical policy and industry guidelines for cancer genetic testing. Our members are recognized institutions in the field of cancer genetics. Current commercial members include Ambry Genetics, a subsidiary of REALM IDx, Illumina, Myriad Genetics, Quest Diagnostics, and Volpara Health. Advocacy members include AliveAndKickn and FORCE: Facing Our Risk of Cancer Empowered. We seek to develop the evidence base and rationale to inform changes in cancer-related genetic testing policies to expand patient access to evidence-based testing.

For more information, visit: https://interactcoalition.org/

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Contact: [emailprotected]

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INTERACT COALITION FORMED TO ADVANCE PATIENT ACCESS TO GENETIC TESTING FOR HEREDITARY ... - PR Newswire

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Jansen Jones wasnt using her hands or legs.

She lacked muscle tone and was too weak to bear weight using her extremities.

The baby could lift and move her head, but she didnt seem as strong as a 5-month-old should be, her mother believed.

"She is my third child," Suzanne Jones said, which means she's witnessed developmental milestones twice previously.

Doctors at Childrens Healthcare of Atlanta diagnosed Jansen with a nonspecific, global developmental delay.

We were just told, She's behind. No big deal. Do some physical therapy, Jones said.

But a lot of babies seem really strong, and it was clear to Jones that Jansen was not.She would curl up in a sort of ball, and sat looking sweet and happy, but did not engage with her environment.

A neurologist said a muscle biopsy might explain the deficiency, but there are false positives with muscle biopsies.

"That is invasive and leaves a scar and scared us," Jones said. "You know, you're basically cutting on her arm or leg."

When Jansen didn't babble as expected, they started speech therapy. Then, they added occupational therapy.

"We just did hours and hours of therapies nonstop for years," Jones said.

A neuro-psychological exam led doctors to say Jansen was intellectually disabled.

This happened about the same time as rare, fleeting seizures caused Jansen to space out for a second or two.

An electroencephalogram (EEG) test confirmed abnormal electrical activity in her brain.

"Well, they just said she has epilepsy," Jones said.

But Jones said the family continually witnessed symptoms that suggested that Jansen was struggling in different ways.

The idea of genetic testing came up by the time Jansen was 3 years old.

"In my opinion, if it's genetics, that's the underlying cause of everything and so that should show us what is going on," Jones said.

Jones doctors described the 46 chromosomes in the body as chapters in a book. Whole exome sequencing was like scanning the book to see whether any chapters were missing or duplicated.

For example,the characteristic features and developmental problems of a person with Down Syndrome is caused by an extra chromosome 21.

Think of that as Chapter 21.

But after having Jansen's whole exome sequenced, they still had no solid answers.

"And so we got results back when she was 3 and it did not show us what was going on," Jones said.

All the Joneses could do was treat Jansen's symptoms, which included behavior problems.

Despite managing Jansen through applied behavior therapy and medication, Jansen acted out and shecouldn't control it. Nightmares made her want to sleep in bed with her parents.

"It's not clear to me why the whole exome sequencing didn't catch it," Jones said. But it's not an infallible test.

An exome is a collection of 180,000 exons responsible for protein coding, but the human exome only comprises about 1% of the human genome.

Now, whole genome sequencing is available.

"And that is what ended up catching it," Jones said.

Jansen was diagnosed just before her 11th birthday with a disorder caused by a single gene mutation: SYNGAP1.

"This mutation was discovered only a year before Jansen was born."

Jansen's frustration stemmed from an inability to reason and communicate.

She turned 13 in October 2023.

"It's not easy," Jones said. "They have a SYNGAP snap. Sometimes their brain just [goes] haywire. And you can't you can't reason with somebody who can't reason. So behaviors can be really difficult."

"Compared to other single-gene mutations that cause epilepsy, SYNGAP1 children have a lot of problems with behavior," Jones said. "And luckily with that being a spectrum, my child has those issues, but it's not constant; it's not as prevalent."

If you have a rare disease, there is an 80% chance that its genetic. That doesnt mean the cause has been identified yet.

Karen Grinzaid with Emory University School of Medicine said she believes everyone planning a family should conduct genetic testing.

"The reason is there are genetic diseases that can happen that haven't shown up in your family yet," she said.

We all carry a number of recessive genes, but we don't know what those genes are unless either we have an affected child, or we do genetic testing.

But a whole genome test like Jansens might make would-be parents more nervous than is necessary.

"When you do broader testing like that, it may turn up problems where it's not clear what the implications are," Grinzaid said. "So, I just can't overemphasize the importance of genetic counseling to help people through this journey."

Suzanne Jones said even though her daughters diagnosis hasnt changed her daughters developmental issues, the genomic sequencing was worth it.

"It's an answer," she said. "We can finally say we understand what all these different symptoms are caused by."

And that, Jones said, makes it a lot less scary to be a parent.

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80% of rare diseases are genetic. That's why whole genome sequencing can help with diagnoses - GPB News

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Adam Christman, DVM, MBA: We're chatting so much in this day and age about customized care, individualized care, and what does that mean now that we have in Embarks DNA testing kit available? What does that look like to the pet parent's perspective and to the veterinarian that we have now, like a customizable care program?

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: So I think we've kind of evolved as a profession over time. You know, initially we practice medicine, and then we practice species-based care, as in cats are not small dogs. Then we started to practice breed-based medicine. Perhaps these things are more breed-associated than others. This is really the next frontier, so personalized medicine.

In addition to MDR1, there are other things that are on our genetic test that could offer some personalized care. One that comes to mind for me is a variant in the POMC gene that interferes with satiety. So if you have a fat lab who comes in, which we see every day, you're doing thyroid testing, the owner swears up and down, you know, they're not feeding the dog anything extra, but he's always hungry.

So this POMC gene really can interfere with satiety and just give a reason for why that pet might be constantly hungry and potentially, maybe overweight. I find it's very helpful to point to something to say, "Hey, this is why your dog maybe has trouble with feeling full." So he's not actually starving, you know? So we can follow this weight management plan.

Adam Christman, DVM, MBA: Yeah, I love that.

Lindsey Kock, DVM: That is one of my favorite studies because if you dig into it, they used assistant dogs in that study and they found that dogs who were really trainable had that POMC mutation, but it makes sense, right? They were food motivated. And so, a lot of dogs that end up in assistance programs tend to be food motivated, tend to be easier to train. It tells us about satiety, and it tells us, you know, things that we wanna know about weight management.

But the other thing it tells us is making some training recommendations, right? So a dog who has the POMC variant might be more likely to be really trainable with food. But we may be able to talk to pet owners who have dogs that don't have that mutation about some other tactics that they can use for training too when they might be having a tough time at home. So it's interesting how when we learn about genetics, sometimes there's the second layer of other ways that that we can apply that information in practice, which is really cool.

Adam Christman, DVM, MBA: There's a practice that has this wonderful thought philosophy that says everyone is a VIP and it's very individualized for the pet and pet parent. And what they do is for every dog whether it be a rescue dog, from a breeder, a puppy, it's included in the initial visit that they already have the Embark DNA test there. What are your thoughts on that?

Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: I think that's a great way to, again, build trust between the client and the practice because everybody feels like the plan is really made together. This is individual for my dog specifically. It's not just the breed or the presumed breed mix. This is my dog so I think that's a great tactic.

Adam Christman, DVM, MBA: Yeah and because they get so excited when they see right and I, to your point, where we're just talking about the human animal bond and we want to bond with our clients in the exam room like that. You want to be excited for them and so having that discussion about genetic testing and being a proactive approach to care I think is so powerful. What are your thoughts on that?

Lindsey Kock, DVM: One thing I think about, too, is we tend to see trends carrying over from human medicine. So I think about how people's animals are parts of the family, right? And they expect them to get the same sort of personalized treatment that a family member may have gotten or that they may have gotten. And so I think, as human medicine becomes more personalized, and we start to use genomic testing in different areas of human medicine, it's important to understand how that is going to impact clients' expectation of us as veterinarians too.

For me, this plays into expectations for personalized care based on things that those clients may seek out if they've done a consumer DNA test. If they've looked at their microbiome, if someone in their family has gone through treatment for cancer and they've done personalized care. So I think the more we start thinking about this type of technology and how we can apply it, I think it's fair to think about the big picture too and client expectations.

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Aim to demonstrate whole genome sequencing can replace the standard diagnostic cascade, for potentially faster diagnosis and lower costs

SECAUCUS, N.J., April 2, 2024 /PRNewswire/ --Quest Diagnostics (NYSE: DGX), a leader in diagnostic information services, and Broad Clinical Labs, the world expert in whole genome sequencing (WGS), today announced a research collaboration designed to demonstrate the clinical value of WGS as a first-line genetic test for postnatal diagnosis of developmental delay disorders.

The parties expect to demonstrate that WGS can provide insightsfrom a single blood testthat are at least as clinically accurate as the multiple conventional tests providers typically use to diagnose a patient.

"We are delighted to bring the experience and expertise of Broad Clinical Labs to this innovative collaboration with Quest. We believe that the genome is a platform upon which many research, screening, and diagnostic tests can be built resulting in benefits for patients and providers alike," said Niall J. Lennon, Ph.D., Chief Scientific Officer of Broad Clinical Labs and Senior Director of Genomics at the Broad Institute of MIT and Harvard.

"WGS has the power to enable a new diagnostic paradigm, where a physician can access genetic insights faster on the patient's diagnostic journey--without multiple doctor visits and lab tests," said Mark Gardner, Senior Vice President, Molecular Genomics and Oncology at Quest Diagnostics. "Broad is the leader in genomic science and Quest is the leader in laboratory testing at scale, so together we have the right combination of skills to explore the potential of WGS to replace the conventional model."

"This research initiative by Broad and Quest involves both phenotypic and genotypic data sharing in an effort to further enhance interpretation of genomic tests and the understanding of development delay," said Heidi Rehm, Ph.D., FACMG, Medical Director of Broad Clinical Labs, and Chief Genomics Officer of Massachusetts General Hospital. "This type of collaboration between commercial laboratories and research institutions is vital to advance the field of genetic testing and increase utility and economic value."

Creating a New Testing Model to Simplify and Speed Diagnosis

Nearly 2% of children manifest intellectual disability. Yet, it can take weeks, months, or even years to identify the underlying cause of intellectual disability or developmental delay, causing a "diagnostic odyssey" for patients and their families. Identification of an underlying diagnosis can lead to changes in management that "will influence mortality, morbidity, and reduce the burden on patients and families searching for answers," according to the American College of Medical Genetics and Genomics.

While the ACMG recommends WGS for first-line genetic testing for intellectual disability and developmental delay, some providers continue to follow prior guidelines that recommend chromosomal microarray (CMA) as a first-line test. CMA is less informative than WGS, and patients whose findings are negative by CMA can require additional rounds of testing, such as with narrow gene tests or genetic panels or exome sequencing, until a cause is found.

"Now that the $100 genome is moving closer to reality, it's time to reconsider the way genetic testing is utilized and reimbursed and, ultimately, end the diagnostic odyssey for children and their families," Mr. Gardner added.

Through the collaboration, Quest will provide de-identified data, including phenotypic (a person's observable traits), and blood, saliva, and buccal swab specimens it has tested for developmental delays using CMA and other tests. Broad will then perform WGS on the de-identified specimens to determine concordance between the methods.

The collaboration will also explore the potential of WGS to provide answers for Fragile X syndrome. Unlike CMA or exome sequencing, WGS can rule out Fragile X as a cause of developmental delay and signal the need for additional confirmatory testing in those whose results suggest it as a possible cause of developmental delay.

Broad Clinical Laboratories, previously known as Clinical research sequencing platform, was founded in 2013 as a non-profit subsidiary of Broad Institute of MIT and Harvard to accelerate the genomics community and the world toward a better understanding, diagnosis, and treatment of disease by pursuing projects, developing products, and driving adoption of cutting edge -omics technologies and novel molecular assays.

Broad Clinical Labs is a leader in human whole genome sequencing, having sequenced over 600,000 genomes in service of its mission to accelerate the understanding and diagnosis of human disease. http://www.broadclinicallabs.org

About Quest DiagnosticsQuest Diagnostics works across the healthcare ecosystem to create a healthier world, one life at a time. We provide diagnostic insights from the results of our laboratory testing to empower people, physicians and organizations to take action to improve health outcomes. Derived from one of the world's largest databases of deidentified clinical lab results, Quest's diagnostic insights reveal new avenues to identify and treat disease, inspire healthy behaviors and improve healthcare management. Quest Diagnostics annually serves one in three adult Americans and half the physicians and hospitals in the United States, and our nearly 50,000 employees understand that, in the right hands and with the right context, our diagnostic insights can inspire actions that transform lives and create a healthier world. http://www.QuestDiagnostics.com.

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Quest Diagnostics and Broad Clinical Labs to Evaluate Whole Genome Sequencing as First-Line Genetic Test for ... - PR Newswire

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Patients in England and Wales who have recently had an ischaemic stroke or transient ischaemic attack could be offered genetic testing to help inform their treatment, following backing from the National Institute for Health and Care Excellence (NICE).

The agency has launched a second consultation on recommendations that clinicians should offer CYP2C19 genotype testing when considering treatment with clopidogrel, an anti-platelet therapy currently recommended as a treatment option for patients at risk of a secondary stroke.

Approximately 35,850 people in England, Wales and Northern Ireland have a non-minor stroke every year.

An estimated 32% of people in the UK have at least one of the highlighted CYP2C19 gene variants, and evidence has suggested that those with these variants have an increased risk of another stroke when taking clopidogrel.

If the genotype test discovers that patients have one of the CYP2C19 gene variants, alternative stroke-prevention treatments would be offered.

Professor Jonathan Benger, chief medical officer at NICE, said: Recommending a genetic test that can offer personalised care to thousands of people who have a stroke each year will be a step forward in ensuring people receive the best possible treatment.

People who are currently taking clopidogrel will not receive retrospective testing and should continue with the treatment until they and their NHS clinician consider it appropriate to stop, NICE outlined.

It added that laboratory-based CYP2C19 genotype testing is its preferred option, followed by the Genedrive CYP2C19 ID Kit point-of-care test and, if neither of the first two options are available, the Genomadix Cube point-of-care test would be used.

The agencys committee has suggested that a phased rollout could be implemented when introducing laboratory-based testing, with testing set to initially be offered to people with a higher risk of stroke recurrence.

Juliet Bouverie, from the Stroke Association, said: Stroke devastates lives and leaves people with life-long disability.

We know that many stroke survivors spend the rest of their lives fearing another stroke, so its great to see that more people could be given appropriate help to significantly cut their risk of recurrent stroke.

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NICE backs post-stroke genetic testing to identify most suitable treatment options - PMLiVE

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A second consultation on recommendations that clinicians should offer CYP2C19 genotype testing when considering treatment with clopidogrel after an ischaemic stroke or Transient Ischaemic Attack (a mini stroke) has begun today, Wednesday 3 April 2024.

NICE currently recommends clopidogrel as a treatment option for people at risk of a secondary stroke. For some people with certain variations in a gene called CYP2C19 other treatments could work better. The genotype test would identify people who have the gene variants so they can be offered an alternative treatment.

The draft guidance recommends testing only for people who have very recently had a stroke or TIA. This is because the risk of another event is higher at this time and therefore so is the potential benefit of testing. As the risk of a recurrent stroke or a mini stroke reduces over time, so does the benefit of testing.

For this reason, those people already taking clopidogrel will not be offered retrospective testing.

People who are currently taking clopidogrel should continue with the treatment until they and their NHS clinician consider it appropriate to stop.

Laboratory-based CYP2C19 genotype testing was the committees preferred option followed by the Genedrive CYP2C19 ID Kit point-of-care test. If neither of the first two options are available, the Genomadix Cube point-of-care test can be used.

The NICE committee suggested that a phased rollout could be used when introducing laboratory-based testing with testing initially offered to people with a higher risk of stroke recurrence who would benefit most from it, such as people who have had a non-minor stroke. The committee recognised that it will take time to build up the testing capacity as no testing is currently undertaken to find out if clopidogrel is a suitable treatment.

Around 35,850 people in England, Wales and Northern Ireland have a non-minor stroke each year.

An estimated 32% of people in the UK have at least one of the highlighted CYP2C19 gene variants. They are more common in people with an Asian family background but can be found in people of any ethnicity. Evidence has suggested that people with these variants have an increased risk of another stroke when taking clopidogrel compared to those without them.

If the test discovers they have one of the CYP2C19 gene variants, the person can be treated with another medicine to prevent future strokes.

Around 11 million items of clopidogrel are dispensed each year at a cost of around 16 million to the NHS.

Professor Jonathan Benger, chief medical officer at NICE, said:Recommending a genetic test that can offer personalised care to thousands of people who have a stroke each year will be a step forward in ensuring people receive the best possible treatment.

We recognise that capacity within laboratories will need to increase before everyone who has had a new stroke or mini-stroke can receive testing. While point of care testing is an alternative, our committee has identified that initially those people who could benefit most from laboratory-based testing are those who have had a non-minor stroke.

Anyone who is currently being treated with clopidogrel should continue with the treatment. They should only stop after discussing the options with their clinician.

Juliet Bouverie, from the Stroke Association, said:"Stroke devastates lives and leaves people with life-long disability. We know that many stroke survivors spend the rest of their lives fearing another stroke, so it's great to see that more people could be given appropriate help to significantly cut their risk of recurrent stroke.

"Getting on the right medication and taking it as advised can really go far to prevent further strokes. If you have been prescribed clopidogrel, you need to keep taking it. If you're worried about your risk of another stroke, you should speak to your doctor."

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NICE launches second consultation on genetic testing to guide treatment after a stroke - NICE

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CRISPR technology offers the promise to cure human genetic diseases with gene editing. This promise became a reality when the worlds first CRISPR therapy was approved by regulators to treat patients with sickle cell disease and beta-thalassemia last year.

American biopharma Vertex Pharmaceuticals CASGEVY works by turning on the BCL11A gene, which codes for fetal hemoglobin. While this form of hemoglobin is produced before a baby is born, the body begins to deactivate the gene after birth. As both sickle cell disease and beta-thalassemia are blood disorders that affect hemoglobin, by switching on the gene responsible for fetal hemoglobin production, CASGEVY presents a curative, one-time treatment for patients.

As CASGEVYs clearance is a significant milestone, the technology has come a long way. CRISPR/Cas9 was first used as a gene-editing tool in 2012. Over the years, the technology exploded in popularity thanks to its potential for making gene editing faster, cheaper, and easier than ever before.

CRISPR is short for clustered regularly interspaced short palindromic repeats. The term makes reference to a series of repetitive patterns found in the DNA of bacteria that form the basis of a primitive immune system, defending them from viral invaders by cutting their DNA.

Using this natural process as a basis, scientists developed a gene-editing tool called CRISPR/Cas that can cut a specific DNA sequence by simply providing it with an RNA template of the target sequence. This allows scientists to add, delete, or replace elements within the target DNA sequence. Slicing a specific part of a genes DNA sequence with the help of the Cas9 enzyme, aids in DNA repair.

This system represented a big leap from previous gene-editing technologies, which required designing and making a custom DNA-cutting enzyme for each target sequence rather than simply providing an RNA guide, which is much simpler to synthesize.

CRISPR gene editing has already changed the way scientists do research, allowing a wide range of applications across multiple fields. Here are some of the diseases that scientists aim to tackle using CRISPR/Cas technology, testing its possibilities and limits as a medical tool.

Cancer is a complex, multifactorial disease, and a cure remains elusive. There are hundreds of different types of cancer, each with a unique mutation signature. CRISPR technology is a game-changer for cancer research and treatment as it can be used for many things, including screening for cancer drivers, identifying genes and proteins that can be targeted by cancer drugs, cancer diagnostics, and as a treatment.

China spearheaded the first in-human clinical trials using CRISPR/Cas9 as a cancer treatment. The study tested the use of CRISPR to modify immune T cells extracted from a patient with late-stage lung cancer. The gene-editing technology was used to remove the gene that encodes for a protein called PD-1 that some tumor cells can bind to to block the immune response against cancer. This protein found on the surface of immune cells is the target of some cancer drugs termed checkpoint inhibitors.

CRISPR technology has also been applied to improve the efficacy and safety profiles of cancer immunotherapy, such as CAR-T cell and natural killer cell therapies. In the U.S., CRISPR Therapeutics is one of the leading companies in this space, developing off-the-shelf, gene-edited T cell therapies using CRISPR, with two candidates targeting CD19 and CD70 proteins in clinical trials.

In 2022, the FDA granted Orphan Drug designation to Intellia Therapeutics CRISPR/Cas9-gene-edited T cell therapy for acute myeloid leukemia (AML). Currently, Vor BioPharmas VOR33 is undergoing phase 2 trials to treat AML, and the CRISPR trial is one to watch, according to a report published by Clinical Trials Arena earlier this year.

However, CRISPR technology still has limitations, including variable efficiency in the genome-editing process and off-target effects. Some experts have recommended that the long-term safety of the approach remain under review. Others have suggested using more precise gene-editing approaches such as base editing, an offshoot of CRISPR that hit the clinic in the U.S. last year.

There are several ways CRISPR could help us in the fight against AIDS. One is using CRISPR to cut the viral DNA that the HIV virus inserts within the DNA of immune cells. This approach could be used to attack the virus in its hidden, inactive form, which is what makes it impossible for most therapies to completely get rid of the virus.

The first ever patient with HIV was dosed with a CRISPR-based gene-editing therapy in a phase 1/2 trial led by Excision Biotherapeutics and researchers at the Lewis Katz School of Medicine at Temple University in Philadelphia back in 2022.

The decision to move the therapy to the clinic was bolstered by the success of an analog of the drug EBT-101 called EBT-001 in rhesus macaques infected with simian immunodeficiency virus (SIV). In a phase 1/2 study, EBT-101 was found to be safe.

Another approach could make us resistant to HIV infections. A small percentage of the worlds population is born with a natural resistance to HIV, thanks to a mutation in a gene known as CCR5, which encodes for a protein on the surface of immune cells that HIV uses as an entry point to infect the cells. The mutation changes the structure of the protein so that the virus is no longer able to bind to it.

This approach was used in a highly controversial case in China in 2018, where human embryos were genetically edited to make them resistant to HIV infections. The experiment caused outrage among the scientific community, with some studies pointing out that the CRISPR babies might be at a higher risk of dying younger.

The general consensus seems to be that more research is needed before this approach can be used in humans, especially as recent studies have pointed out this practice can have a high risk of unintended genetic edits in embryos.

Cystic fibrosis is a genetic disease that causes severe respiratory problems. Cystic fibrosis can be caused by multiple different mutations in the target gene CFTR more than 700 of which have been identified making it difficult to develop a drug for each mutation. With CRISPR technology, mutations that cause cystic fibrosis can be individually edited.

In 2020, researchers in the Netherlands used base editing to repair CFTR mutations in vitro in the cells of people with cystic fibrosis without creating damage elsewhere in their genetic code. Moreover, aiming to strike again with yet another win is the duo Vertex Pharmaceuticals and CRISPR Therapeutics, which have collaborated to develop a CRISPR-based medicine for cystic fibrosis. However, it might be a while until it enters the clinic as it is currently in the research phase.

Duchenne muscular dystrophy is caused by mutations in the DMD gene, which encodes for a protein necessary for the contraction of muscles. Children born with this disease experience progressive muscle degeneration, and existing treatments are limited to a fraction of patients with the condition.

Research in mice has shown CRISPR technology could be used to fix the multiple genetic mutations behind the disease. In 2018, a group of researchers in the U.S. used CRISPR to cut at 12 strategic mutation hotspots covering the majority of the estimated 3,000 different mutations that cause this muscular disease. Following this study, Exonics Therapeutics was spun out to further develop this approach, which was then acquired by Vertex Pharmaceuticals for approximately $1 billion to accelerate drug development for the disorder. Currently, Vertex is in the research stage, and is on a mission to restore dystrophin protein expression by targeting mutations in the dystrophin gene.

However, a CRISPR trial run by the Boston non-profit Cure Rare Disease targeting a rare DMD mutation resulted in the death of a patient owing to toxicity back in November 2022. Further research is needed to ensure the safety of the drug to treat the disease.

Huntingtons disease is a neurodegenerative condition with a strong genetic component. The disease is caused by an abnormal repetition of a certain DNA sequence within the huntingtin gene. The higher the number of copies, the earlier the disease will manifest itself.

Treating Huntingtons can be tricky, as any off-target effects of CRISPR in the brain could have very dangerous consequences. To reduce the risk, scientists are looking at ways to tweak the genome-editing tool to make it safer.

In 2018, researchers at the Childrens Hospital of Philadelphia revealed a version of CRISPR/Cas9 that includes a self-destruct button. A group of Polish researchers opted instead for pairing CRISPR/Cas9 with an enzyme called nickase to make the gene editing more precise.

More recently, researchers at the University of Illinois Urbana-Champaign used CRISPR/Cas13, instead of Cas9, to target and cut mRNA that codes for the mutant proteins responsible for Huntingtons disease. This technique silences mutant genes while avoiding changes to the cells DNA, thereby minimizing permanent off-target mutations because RNA molecules are transient and degrade after a few hours.

In addition, a 2023 study published in Nature went on to prove that treatment of Huntingtons disease in mice delayed disease progression and that it protected certain neurons from cell death in the mice.

With CASGEVYs go-ahead to treat transfusion-dependent beta-thalassemia and sickle cell disease in patients aged 12 and older, this hints that CRISPR-based medicines could even be a curative therapy to treat other blood disorders like hemophilia.

Hemophilia is caused by mutations that impair the activity of proteins that are required for blood clotting. Although Intellia severed its partnership with multinational biopharma Regeneron to advance its CRISPR candidate for hemophilia B a drug that was recently cleared by the FDA to enter the clinic the latter will take the drug ahead on its own.

As hemophilia B is caused by mutations in the F9 gene, which encodes a clotting protein called factor IX (FIX), Regenerons drug candidate uses CRISPR/Cas9 gene editing to place a copy of the F9 gene in cells in order to get the taps running for FIX production.

The two biopharmas will continue their collaboration in developing their CRISPR candidate to treat hemophilia A, which manifests as excessive bleeding because of a deficit of factor VIII. The therapy is currently in the research phase.

While healthcare companies were creating polymerase chain reaction (PCR) tests to screen for COVID-19 in the wake of the pandemic, CRISPR was also being put to use for speedy screening. A study conducted by researchers in China in 2023, found that the CRISPR-SARS-CoV-2 test had a comparable performance with RT-PCR, but it did have several advantages like short assay time, low cost, and no requirement for expensive equipment, over RT-PCRs.

To add to that, the gene editing tool could fight COVID-19 and other viral infections.

For instance, scientists at Stanford University developed a method to program a version of the gene editing technology known as CRISPR/Cas13a to cut and destroy the genetic material of the virus behind COVID-19 to stop it from infecting lung cells. This approach, termed PAC-MAN, helped reduce the amount of virus in solution by more than 90 percent.

Another research group at the Georgia Institute of Technology used a similar approach to destroy the virus before it enters the cell. The method was tested in live animals, improving the symptoms of hamsters infected with COVID-19. The treatment also worked on mice infected with influenza, and the researchers believe it could be effective against 99 percent of all existing influenza strains.

As European, U.S., and U.K. regulators have given their stamp of approval for the first-ever CRISPR-based drug to treat patients, who is to say we wont see another CRISPR-drug hitting this milestone in the near future.

And apart from the diseases mentioned, CRISPR is also being studied to treat other conditions like vision and hearing loss. In blindness caused by mutations, CRISPR gene editing could eliminate mutated genes in the DNA and replace them with normal versions of the genes. Researchers have also demonstrated how getting rid of the mutations in the Atp2b2 and Tmc1 genes helped partially restore hearing.

However, one of the biggest challenges to turn CRISPR research into real cures is the many unknowns regarding the potential risks of CRISPR therapy. Some scientists are concerned about possible off-target effects as well as immune reactions to the gene-editing tool. But as research progresses, scientists are proposing and testing a wide range of approaches to tweak and improve CRISPR in order to increase its efficacy and safety.

Hopes are high that CRISPR technology will soon provide a way to address complex diseases such as cancer and AIDS, and even target genes associated with mental health disorders.

New technologies related to CRISPR research:

This article was originally published in June 2018, and has since been updated by Roohi Mariam Peter.

Read more here:
Seven diseases that CRISPR technology could cure - Labiotech.eu

Recommendation and review posted by Bethany Smith

ZUG, Switzerland and BOSTON, April 01, 2024 (GLOBE NEWSWIRE) -- CRISPR Therapeutics(Nasdaq: CRSP), a biopharmaceutical company focused on creating transformative gene-based medicines for serious diseases, today announced an oral presentation at the American Society of Gene & Cell Therapy (ASGCT) 2024 Annual Meeting, taking place May 7 11, 2024, in Baltimore, MD and virtually.

Title: Development of an In Vivo Non-Viral Ocular Editing Platform and Application to Potential Treatments for Glaucoma Session Type: In-Person Oral Presentation Session Title: Ophthalmic and Auditory: Delivery Innovations Abstract Number:87 Location: Room 318 323 Session Date and Time: Wednesday, May 8, 2024, 1:30 p.m. 3:15 p.m. ET

Abstracts will be released to the public on April 22, 2024, at 4:30 p.m. ET at https://annualmeeting.asgct.org/. The data are embargoed until 6:00 a.m. ET on the presentation day, Wednesday May 8, 2024. A copy of the presentation will be available at http://www.crisprtx.com once the presentation concludes.

About CRISPR Therapeutics Since its inception over a decade ago, CRISPR Therapeutics has transformed from a research-stage company advancing programs in the field of gene editing, to a company with a diverse portfolio of product candidates across a broad range of disease areas including hemoglobinopathies, oncology, regenerative medicine, cardiovascular and rare diseases. The Nobel Prize-winning CRISPR science has revolutionized biomedical research and represents a powerful, clinically validated approach with the potential to create a new class of potentially transformative medicines. To accelerate and expand its efforts, CRISPR Therapeutics has established strategic partnerships with leading companies including Bayer and Vertex Pharmaceuticals. CRISPR Therapeutics AG is headquartered in Zug, Switzerland, with its wholly-owned U.S. subsidiary, CRISPR Therapeutics, Inc., and R&D operations based in Boston, Massachusetts and San Francisco, California, and business offices in London, United Kingdom. To learn more, visit http://www.crisprtx.com.

Investor Contact: Susan Kim +1-617-307-7503 susan.kim@crisprtx.com

Media Contact: Rachel Eides +1-617-315-4493 rachel.eides@crisprtx.com

Read more:
CRISPR Therapeutics to Present at the American Society of Gene & Cell Therapy (ASGCT) 2024 Annual Meeting - GlobeNewswire

Recommendation and review posted by Bethany Smith

image:

Surgery team ICREC-IGTP

Credit: IGTP

The promising results obtained in a clinical trial with a pioneering advanced therapy drug named PeriCord, which aims to repair the heart of patients who have suffered a heart attack, confirm the feasibility of new therapies based on the application of stem cells and tissue engineering to promote the regeneration of damaged tissues.

This new medicine, derived from umbilical cord and pericardium stem cells from tissue donors, is a world-first tissue engineering product (a type of advanced therapy combining cells and tissues optimised in the laboratory). The drug is applied in patients undergoing coronary bypass, utilising the procedure to repair the scar in the heart area affected by the infarction, which has lost the ability to beat when blood flow stopped.

Thefirst interventionof this new therapy was almost 4 years ago, resulting from a collaboration between the ICREC Group (Heart Failure and Cardiac Regeneration) at Germans Trias i Pujol Research Institute (IGTP) and Banc de Sang i Teixits (BST). Following its success, a study was initiated to demonstrate its clinical safety. The study included 12 coronary bypass candidates, 7 treated with bioimplants and 5 without, to compare the outcomes.

Dr Antoni Bays, ICREC researcher and first author of the article:"This pioneering human clinical trial comes after many years of research in tissue engineering, representing a very innovative and hopeful treatment for patients with a heart scar resulting from a heart attack", referring to PeriCord.

While the current study aimed to demonstrate the safety of this new drug in the context of myocardial infarction, its positive outcomes have shown that PeriCord possesses other exceptional properties. It has proven to be a medicine with excellent biocompatibility, drastically minimising the risk of rejection and ensuring perfect tolerance by the body. Additionally, it has anti-inflammatory properties, paving the way for broader applications in pathologies involving inflammation."Its potential could be much wider; we believe it can be a valuable tool for modulating inflammatory processes", explains Dr Sergi Querol, head of the Cellular and Advanced Therapies Service at BST.

Severe but stable patients

The patients included in the therapy are individuals who have suffered a heart attack and have reduced quality and life expectancy. The bypass ensures blood circulation in the area, and the bioimplant goes a step further to stimulate the scar, initiating cellular mechanisms involved in tissue repair.

"Voluntarily provided substances of human origin are used, both in terms of multi-tissue donor pericardial tissue and mesenchymal stem cells from umbilical cord donors at the birth of a baby", explains Querol. It is very gratifying to think that"thanks to this and the donors, we provide a new therapeutic tool that can improve a patient's quality of life", he adds.

PeriCord consists of a membrane that comes from the pericardium of a tissue donor, which BST has decellularised and lyophilised. It has then been recellularised with these umbilical cord stem cells.

Once in the operating theatre, surgeons attach the laboratory-generated bioimplant to the affected area of the patient's heart. After a year, the implanted tissue adheres and adapts perfectly to the structure of the heart, covering the scar left by the heart attack.

Randomized controlled/clinical trial

People

Implantation of a double allogeneic human engineered tissue graft on damaged heart: insights from the PERISCOPE phase I clinical trial

14-Mar-2024

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

Original post:
First cardiac bioimplants for the treatment of patients with myocardial infarction using umbilical cord stem cells - EurekAlert

Recommendation and review posted by Bethany Smith

Sign up for CNNs Stress, But Less newsletter.Our six-part mindfulness guide will inform and inspire you to reduce stress while learning how to harness it.

There is no doubt that stress is a part of everyday life, but too much can have detrimental impacts on peoples physical and mental health.

I wanted to delve more into depth about the health impacts of stress during National Stress Awareness Month. What does stress do to the body? When does it become a problem, and what are some ways to cope with it? And what can people do with stressors such as a hard job or caregiving responsibilities that cant just go away?

To help us answer these questions, I had a conversation with CNN wellness expert Dr. Leana Wen. Wen is an emergency physician and adjunct associate professor at George Washington University. She previously served as Baltimores health commissioner.

CNN: What does stress do to a persons body?

Dr. Leana Wen: When people experience a perceived threat, a variety of hormones are released that make the heart beat faster and increase blood pressure and blood sugar. These hormones also divert energy away from other parts of the body, such as the immune system and digestive system. These are evolutionary adaptations that once helped people to respond to situations such as predators chasing after them. Such fight or flight responses are normal and may be helpful in modern-day life. For instance, they could help an athlete with a faster performance or a student with staying up to study for an exam.

The problem arises when the bodys stress response is continuous. A perpetual state of fight or flight could lead to many chronic problems. Individuals could experience anxiety and depression, and other mental health ailments. They could also have headaches, muscle tension, abdominal pain, sleep disturbances, decreased immunity to infections, and problems with memory and concentration. Chronic stress has also been linked to increased likelihoods of high blood pressure, diabetes, heart attack and stroke.

Story continues

CNN: Everyone experiences stress, so when does it become a problem?

Wen: Its natural for people to experience stress to discrete stressful events (those that have a clear onset such as the birth of a child, starting of a new job, a divorce or the death of a loved one) that happen in their lives. The problem is when stress becomes a chronic state of being.

Warning signs to look out for include signs or symptoms of mental health concerns or physical manifestations of stressfor instance, if someone starts having new heart palpitations, abdominal pain or headaches. In addition, some people may attempt to cope with stress by using alcohol or drugs. A change in substance use could be a red flag to look for underlying stressors.

People should also ask themselves if stress is negatively affecting their function at home, at work and with their friends. Someone who finds themselves unusually irritable and is lashing out at loved ones and colleagues may also be doing so because of excessive stress.

CNN: Why should we be aware of excessive stress and try to reduce it as a health priority?

Wen: We can think of stress as something in our lives that is modifiable, just like high blood pressure or high blood sugar. The stressor itself may not be able to be changed, just as we cannot change our genetic predisposition to hypertension or diabetes. However, our reaction to it is within our control. And its our reaction to the stressor that determines our health outcomes. If stress has detrimental effects on our health, just as high blood pressure and diabetes do, then we can and should look for ways to reduce these effects.

CNN: What are some ways we can cope with stress?

Wen: First, its important to clarify that there are good and bad ways to cope with stress. Some people may turn to these not-so-good ways because it may help them feel better in the short-term, but there are real risks. I mentioned drinking alcohol and using drugsobviously, these are not healthy coping strategies. Neither are binge-eating or smoking.

I think its really important to be self-aware. Be honest with yourself: When you have faced stressful situations in the past, have you turned to these unhealthy ways to cope? If so, be on the lookout and work to prevent these behaviors during stressful times.

Also, try to anticipate when there will be stressful situations. Is there a big deadline at work coming up? A family gathering that is likely to elicit negative emotions? A difficult conversation with a loved one? Knowing that a stressful event may occur can help you anticipate your reaction and plan accordingly.

I advise, too, that people make a list of stress relief techniques that have worked for them in the past. And try new techniques. Deep breathing exercises are something everyone can try and help both in the moment of the stressful encounter and after, for example, as is mindfulness meditation.

Im also a big fan of exercise. There is excellent scientific evidence that exercise is very effective at managing stress. Exercise reduces stress hormones and increases endorphins, which are feel-good neurotransmitters that can relax the body and improve mood.

CNN: What is your advice for people who have stressors in their livessuch as a hard job or caregiving responsibilitiesthat cant easily go away?

Wen: This is really hard, because of course it would be ideal to address the stressors themselves. But many people have stressful situations that they cant change.

It helps to be up front about that and acknowledge that changing the situation is not in your control. What is in your control, though, is your reaction to the situation.

Here is where self-awareness and self-care are so important. Learn to recognize when you are feeling especially stressed. Perhaps you feel tension in your neck and back muscles, or you have abdominal cramps or jitters. These are the times to practice deep breathing, meditation and other exercises that help you in the short-term.

For both short- and long-term benefit, its essential to make time for self-care. By that, I mean activities that you enjoy and that can take your mind off the stressful life situations. These could include taking a walk with a good friend, working in the garden, playing with your pets, reading a good book or otherwise participating in activities you enjoy. Think of the time you are putting aside for yourself as a kind of therapy; stress can make you unhealthy, so this is your way of giving yourself treatment to offset that stress.

Along those lines, knowing that stress is one factor that can impact your well-being, work to maximize the other aspects that contribute to overall health. Try to get adequate, restful sleep. Aim to eat healthy, whole foods and reduce your consumption of ultra-processed products. Make sure other chronic medical conditions, such as high blood pressure, are being treated. And do not wait to seek help from your mental health or primary care provider if the stress you are experiencing is leading to continuing mental health or physical distress.

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Go here to see the original:
What people should know about stress, according to a doctor - Yahoo Singapore News

Recommendation and review posted by Bethany Smith

Pharmac Te Ptaka Whaioranga has issued a request for proposals (RFP) asking suppliers to bid for the supply of oestradiol gel in New Zealand.

Pharmac is looking to fund a new type of oestradiol treatment without restrictions, says Dr David Hughes, Pharmacs Director Advice and Assessment/Chief Medical Officer.

In the past three years, the supply issues for oestradiol patches has caused stress and frustration for New Zealanders. Demand has more than doubled - growing from 1.2 million patches dispensed in 2020/21 to over 3 million patches in 2022/23.

Our clinical advisors have told us that funding another oestradiol product would be useful because demand is increasing, and we are continuing to experience global supply issues for oestradiol patches. We know that some people would use the gel if its funded, and this could relieve some of the stress on the supply of patches.

Oestradiol is used by 85,000 people each year for the treatment of a range of conditions including, menopause, osteoporosis, and gender affirming health care. It is most often used as a patch placed on the skin, but it is also available as a tablet.

We want to make sure people get the treatment they need, and which can be funded from Pharmacs fixed budget, so were keen to hear from suppliers about what they can offer, says Dr Hughes.

Dr Linda Dear, a menopause specialist says, Its wonderful to hear that another step is being taken towards giving perimenopausal and menopausal New Zealanders fully funded access to oestradiol (estrogen) gels.

This will provide a much-needed alternative, so people are no longer solely reliant on the patches as the only funded transdermal option available. Having gels as an alternative will ease the pressure of the supply issue which has had an impact on New Zealanders using the treatments, pharmacists, and prescribing doctors alike. My hope is that we dont have to wait too much longer to access this important therapy.

Pharmacs job is to assess and prioritise which treatments will deliver the best possible health outcomes for New Zealanders from the available budget, says Dr Hughes.

"Once this RFP closes, an evaluation committee will meet to consider the bids received. We will also seek advice from our clinical advisors. As this activity progresses, well share more information with the public.

Read the original here:
Pharmac seeking bids from suppliers to fund another type of hormone replacement therapy - New Zealand Doctor Online

Recommendation and review posted by Bethany Smith

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder resulting from germline mutations in the APC gene. The APC gene, comprising 15 exons and encoding a protein with 2843 amino acids, is implicated in ~80% of FAP cases1. Extensive genetic analysis has revealed germline variants in FAP patients, and most APC mutations are found in the 5 half of the coding region. Genotypephenotype correlations have been reported for small-nucleotide alterations, including frameshift and nonsense mutations2,3. Large genomic deletions and duplications have been identified using multiplex ligation-dependent probe amplification (MLPA)4. Whole-genome array comparative genomic hybridization (aCGH) was used to identify a large deletion involving the middle portion of the long arm of chromosome 55. Here, we report a case of an FAP patient with intellectual disability that was attributed to a large deletion involving 5q22.2.

The proband was a 28-year-old female who was referred to the emergency hospital with acute abdominal pain. Computed tomography (CT) demonstrated perforation of the descending colon, multiple colorectal polyps, multiple liver metastases and lymph node swelling. She underwent left hemicolectomy, and the subsequent histological diagnosis was moderately differentiated adenocarcinoma (pT4a, pStage IVa). Chemotherapy was selected for treatment of the residual metastasis. Colonoscopy revealed advanced colon cancer with multiple adenomatous polyps (>100). Head CT revealed an osteoma in her skull, and the phenotype was subsequently defined as Gardners syndrome.

The patient had slight intellectual disability without developmental delay or neurogenic abnormalities. She and her mother requested comprehensive genomic panel (CGP) analysis (OncoGuideTM NCC oncopanel, Sysmex, Hyogo, Japan) of surgically resected colon cancer tissue after providing informed consent. This test can detect mutations in 124 genes and differentiate between germline and somatic mutations. The pathogenic mutations detected were KRAS G13D, PIC3CA H1047R, and TP53 M169fs*2, but no targeted therapy was recommended by the expert panel. No germline findings were reported, but whole APC gene deletion was suspected due to the low amplicon depth of the APC gene in both the tumor tissue and blood samples (Fig. S1).

According to her familial history (Fig. 1), her mother (II-3) was treated for sporadic colon cancer. She refused genetic testing due to receiving cancer chemotherapy. Her son (IV-1), whose intelligence was slightly low, had a single-parent history because his father was not identified.

The arrow indicates the patients who underwent genetic counseling. A closed circle indicates an individual with colorectal cancer. Colorectal polyposis was observed in the proband (III-1) but not in her ancestors.

After genetic counseling, aCGH (GenetiSure Dx Postnatal Assay, Agilent, Tokyo, Japan) was performed for further genetic testing. Notably, aCGH revealed the loss of chromosome 5 (chr5) q22.1-q22.2 (Fig. 2), the loss of chr3 p24.1-p23, and the gain of chr15 q15.3. The chr5 deletion included the entire APC gene (chr5:112043195-112181936 in GRCh37) located at 5q22.2 (Fig. S2), according to the Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources (DECIPHER, https://www.deciphergenomics.org).

A heterozygous 5q22 deletion was detected. The minimal and maximal deletion positions in GRCh37 (start_stop) were 111143360_112213143 and 111118900_112239978, respectively.

This case in which the entire APC gene was deleted, as determined by aCGH, is rare. Chromosome 5p22.1-22.2 deletion causes 1Mb of heterozygous loss, including the APC gene, which was reported as a cytogenetically detected deletion in previous reports. Previously, karyotyping and fluorescence in situ hybridization were used to detect large submicroscopic genomic deletions, and aCGH was used to detect high-resolution copy number variants in whole chromosomes6. aCGH is sensitive and comprehensive, allowing detection of multiple variations, and annotations by specialists are needed. DECIPHER catalogs common copy number changes, enabling the identification of potentially pathogenic variants. aCGH can also be used for sequencing targeted genes. For FAP patients, germline APC variants are identified by direct sequencing using next-generation sequencing (NGS) and MLPA5. Sequencing has been used to detect APC gene variants, but ~20% of FAP patients do not carry these variants. MLPA is useful for detecting whole or large APC gene copy number variants in mutation-negative FAP patients. There are several case reports in which germline variants of FAP were examined via aCGH7,8,9,10.

Our young patient with advanced colon cancer derived from multiple colorectal polyposis was diagnosed with FAP according to the clinical features. A CGP was performed using NGS for cancer precision medicine in this patient. Because metastatic colon cancer is treated by chemotherapy, somatic genomic analysis with CGP was also conducted to determine the optimal chemotherapy regimen. Next, we used NGS to determine the sequence of 100bp amplicons of 124 cancer-related genes from cancer tissue and peripheral blood. A large APC deletion was not detected by this targeted sequence, although both the somatic and germline amplicon depths of the APC gene were slightly low. A large number of APC variants have already been deposited in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/). For several FAP patients in which germline APC variants were not found, investigations of copy number variations have been performed. The genotypephenotype correlation of patients with chromosome 5q deletions has been discussed10. A classical FAP phenotype is associated with a mutation in codons 1681250 or codons 14001580. A severe phenotype is caused by a mutation in codons 12501464. A more attenuated form is associated with mutations in three regions: the 5 region of the APC gene, the alternative splicing region in exon 9, and the extreme 3 end of the gene11.

Whole or partial APC gene deletions can be detected with recently developed genetic techniques9,10,12. MLPA and aCGH are candidates for confirming large deletions or duplications, and the latter genetic test was chosen for our patient. In our patient, two chromosomal losses and one gain were detected. The advantage of chromosomal analysis is that it can reveal unexpected genetic changes even in separate chromosomes. The CGH database includes some patients with large deletions in chromosomal region 5q22, including the APC gene. In a very recent case report, aCGH was utilized to identify a large 19.85Mb deletion12. A case series with a literature review described a patient with intellectual disability and a colon neoplasm with an interstitial deletion of 5q identified by aCGH. Colorectal cancers are observed in some patients with 5q deletions, yet examination of colorectal polyposis in this context is limited. Among the primary dysmorphisms and symptoms linked to 5q deletions, the predominant manifestation identified in the analysis of 12 patients was mental retardation12. The cases documented in both the literature and the DECIPHER database are characterized by common clinical features, including predisposition to cancer, intellectual disability, and neurodevelopmental delay. Patients with these congenital changes should undergo genetic testing, including G-band, fluorescence in situ hybridization (FISH), and aCGH. aCGH offers high resolution, allowing for the detection of changes at the chromosomal level. This high sensitivity is particularly valuable when conventional methods, such as karyotyping or FISH, may not provide detailed information about genomic alterations. Moreover, this approach allows researchers and clinicians to explore potential genetic factors beyond the well-known APC genes. In the near future, long-read sequencing of large deletions may enable us to obtain detailed genomic information13. Additional clinical information is needed to establish the genotypephenotype correlations associated with the 5q22.2 deletion that includes the whole APC gene. The published cases have raised the question of whether whole APC deletion induces colorectal polyposis. Casper et al. reported a case of Gardner syndrome attributable to a substantial interstitial deletion of chromosome 5q, offering a comprehensive review of published cases9. Until 2014, 16 patients with FAP resulting from chromosome 5q deletions were documented, with all but one patient presenting with classic adenomatous polyposis rather than the profuse form. Most of these deletions were de novo alterations, consistent with our reported case in which the patients mother (II-3) exhibited sporadic colon cancer without polyposis. In the familial lineage (Fig. 1), our patients son (IV-1) carried a deletion in the 5q22.1-22.2 region, mirroring the genomic alteration of his mother (III-1). However, the genetic inheritance pattern of this large deletion is unclear. Meticulous follow-up of the young boy is important for addressing this issue.

In conclusion, this study describes a rare FAP patient characterized by a large deletion of chromosome 5q22.1-22.2 identified through comprehensive genomic analysis. The genetic variant was suspected by CGP and eventually identified by aCGH. These findings emphasize the importance of advanced genetic techniques in identifying complex genomic variations and suggest a need for additional research to elucidate the specific features associated with whole-APC gene deletions.

Link:
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and ... - Nature.com

Recommendation and review posted by Bethany Smith

The global genetic analysis market was evaluated at USD 10.55 billion in 2023 and is expected to attain around USD 23.60 billion by 2033, growing at a CAGR of 8.39% from 2024 to 2033. The increasing demand for genetic testing services is driving growth within the genetic analysis market.

Market Overview

The genetic analysis market is experiencing significant transformation due to advances in genetic technology, which are fundamentally changing perceptions and practices within the healthcare industry. At the heart of this transformation lies the process of genetic analysis, which involves the examination of DNA samples to identify mutations that may influence disease susceptibility or treatment response. This analysis is pivotal for understanding the structure and function of genes, with techniques such as gene cloning playing a crucial role in isolating and replicating specific genes for detailed examination.

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One notable aspect of genetic analysis is its diverse clinical applications. It serves as a diagnostic tool, aiding in the confirmation of diagnoses in symptomatic individuals, while also facilitating the monitoring of disease prognosis and treatment response. Additionally, genetic analysis enables predictive or predisposition testing, allowing for the identification of individuals at risk of developing certain diseases before symptoms manifest.

The emergence of predictive genetic testing is creating new market opportunities, as it enables proactive disease prevention strategies and early interventions. As perceptions regarding genetic testing continue to evolve, the market for genetic analysis is expected to witness sustained growth, driven by its potential to revolutionize patient care and improve health outcomes.

Key Insights

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North America to sustain its position in the upcoming years with the U.S. being largest contributor

In 2023, North America emerged as the dominant force in the genetic analysis market, particularly in the United States. The US showcased a robust infrastructure with 200 laboratories actively conducting 37,124 clinical tests, underscoring the region's significant investment and adoption of genetic analysis technologies. Notably, 29 laboratories specialized in whole exome sequencing (WES), while 17 laboratories focused on whole genome sequencing (WGS), indicating a wide array of genetic testing capabilities available within the country.

The United States exhibits a proactive approach towards healthcare, as evidenced by mandatory newborn screening programs targeting a specific set of genetic diseases. Although the exact set of diseases screened may vary from state to state, the emphasis remains on conditions where early diagnosis is crucial for effective treatment or prevention strategies. This regulatory framework underscores the importance placed on leveraging genetic analysis for proactive healthcare management and disease prevention initiatives.

Beyond clinical applications, genetic analysis in North America extends to ecological and environmental contexts. The presence of invasive species such as Phragmites australis subsp. australis poses ecological challenges across multiple regions. The co-occurrence of this invasive subspecies with native counterparts and instances of hybridization necessitates precise differentiation methods for effective management strategies. Genetic analysis plays a pivotal role in distinguishing between phragmites subspecies or haplotypes, facilitating targeted management efforts to mitigate ecological harm and preserve native ecosystems.

Asia Pacific to witness lucrative opportunities in the upcoming years

Asia Pacific emerges as a pivotal region poised for substantial growth in the genetic analysis sector, driven by dynamic developments in genetic counselling and genome mapping initiatives. Forecasts indicate that Asia Pacific will experience the fastest growth rate in the genetic analysis market during the forecast period, underscoring the region's significance in shaping the future of genetic healthcare services.

A recent milestone in the region's genetic counselling landscape is the establishment of the Professional Society of Genetic Counsellors in Asia (PSGCA). Formed as a special interest group of the Asia Pacific Society of Human Genetics, PSGCA aims to spearhead the advancement and integration of the genetic counselling profession across Asia. With a vision to become the premier organization driving genetic counselling mainstream adoption in the region, PSGCA endeavors to ensure equitable access to genetic counselling services for individuals. Its mission centers on elevating standards of practice, curriculum, research, and continuing education to promote quality genetic counselling services throughout Asia.

The rapid evolution of genetic and genomic technologies has significantly transformed healthcare services in low- and middle-income countries (LMICs) across the Asia-Pacific region. Initially focused on population-based disease prevention strategies, genetic services have transitioned towards clinic-based and therapeutics-oriented approaches. Notably, the region's genetic diversity, exemplified by populous and genetically varied countries such as China, India, Japan, and Indonesia, positions them as prime candidates for genome mapping research endeavors.

How the genetic analysis market in Asia Pacific

Report Highlights

By Product

The reagents & kits segment asserted dominance in the genetic analysis market in 2023. DNA reagents play a pivotal role in various DNA-related processes and techniques, including sequencing, synthesis, cloning, and mutagenesis. These products encompass a diverse range, such as plasmids, buffers, labeling technology, columns, and comprehensive test kits utilized in DNA testing, including direct-to-consumer (DTC) genetic tests. While offering accessible information about the scientific basis of tests, the usage of DTC genetic tests carries inherent risks due to the absence of personalized guidance concerning the results.

The instruments segment emerged as the fastest-growing sector within the genetic analysis market. Core laboratory instruments constitute essential tools in genetic engineering research, facilitating precise and reliable experimentation. Polymerase Chain Reaction (PCR) machines, also known as thermal cyclers, stand as indispensable equipment in genetic engineering labs, enabling the amplification of specific DNA segments crucial for detailed analysis.

By Test

In 2023, the disease diagnostic testing segment emerged as the dominant force in the genetic analysis market. This segment specializes in identifying whether individuals harbor specific genetic diseases by detecting alterations in particular genes. While these tests excel at pinpointing gene mutations, they often fall short in determining disease severity or age of onset. Thousands of diseases stem from mutations in a single gene, making diagnostic testing pivotal in confirming or ruling out genetic diseases and chromosomal abnormalities. Frequently utilized during pregnancy or when symptomatic, diagnostic genetic testing offers crucial insights for accurate diagnosis and timely intervention.

The prenatal and newborn testing segment emerged as the fastest-growing sector in the genetic analysis market during the forecast period. Prenatal genetic testing provides prospective parents with vital information regarding potential genetic disorders in the fetus. Prenatal screening tests assess the likelihood of fetal aneuploidy and select disorders, while prenatal diagnostic tests definitively ascertain the presence of specific disorders. These tests, conducted on fetal or placental cells obtained through procedures like amniocentesis or chorionic villus sampling (CVS), play a pivotal role in informed decision-making during pregnancy.

Newborn screening, a subset of prenatal and newborn testing, comprises a set of laboratory tests performed on newborns to detect known genetic diseases. Typically conducted via a heel prick within the first few days of life, newborn screening enables early identification and intervention for treatable genetic conditions, thereby improving health outcomes. As the demand for early detection and preventive measures rises, the prenatal and newborn testing segment is poised for continued growth, bolstering the comprehensive landscape of genetic analysis.

By Technology

In 2023, the real-time PCR system segment emerged as the dominant force in the genetic analysis market. Real-time PCR (RT-PCR) systems offer unparalleled capabilities for quantitative genotyping and detection of single nucleotide polymorphisms (SNPs), allelic discrimination, and genetic variations even in samples with minimal mutation carriers. Multiplex PCR systems, a subset of RT-PCR, are gaining prominence, particularly in plant/microbe associations, where standard PCR methods prove inadequate. Multiplex RT-PCR facilitates the identification of multiple genes through the utilization of fluorochromes and analysis of melting curves, providing enhanced accuracy and efficiency in genetic analysis.

The next-generation sequencing (NGS) segment emerged as the fastest-growing sector in the genetic analysis market. NGS technology revolutionizes DNA sequencing and RNA sequencing and variant/mutation detection by enabling high-throughput sequencing of hundreds to thousands of genes or whole genomes within a short timeframe. The sequence variants/mutations detected by NGS hold profound implications for disease diagnosis, prognosis, therapeutic decision-making, and patient follow-up, paving the way for personalized precision medicine initiatives.

By Application

In 2023, the infectious diseases segment asserted dominance in the genetic analysis market, offering molecular genetic tests capable of identifying common viruses or bacteria responsible for respiratory infections and infectious diarrhea. These tests, conducted on samples collected from the nose and throat or a single stool sample, facilitate rapid and accurate diagnosis, enabling timely treatment and containment of infectious outbreaks.

The genetic diseases segment emerged as the fastest-growing sector in the genetic analysis market during the forecast period. The extent to which genes contribute to diseases varies, presenting opportunities for advancements in understanding genetic mechanisms underlying various conditions. This progress facilitates the development of early diagnostic tests, novel treatments, and preventive interventions to mitigate disease onset or severity.

By End Use

In 2023, the research & development laboratories segment emerged as the dominant force in the genetic analysis market, actively driving advancements in genetic disease study and testing technology. These laboratories are pivotal in enhancing clinical patient care by conducting rigorous research and development activities aimed at improving test strategies and introducing novel genetic tests. Board-certified directors and genetic counsellors collaborate closely with laboratory supervisors and technologists to ensure the delivery of accurate and reliable results within stipulated timelines. With a focus on meeting stringent validation standards, approved tests undergo thorough evaluations of methodology and clinical utility. Research programs within these laboratories leverage collective expertise to propel the field of genetics and genetic testing forward.

The diagnostic centers segment is poised for significant growth in the genetic analysis market during the forecast period. Diagnostic centers offer a comprehensive range of testing services crucial for diagnosing diverse medical conditions. By providing accurate and informed diagnoses, diagnostic centers enable physicians to develop effective treatment plans, ultimately enhancing patient outcomes. Leveraging advanced diagnostic technologies and techniques, these centers play a vital role in identifying underlying causes of diseases, monitoring disease progression, and devising personalized treatment approaches. Collaborating with healthcare providers like primary care physicians, specialists, and hospitals, diagnostic centers ensure accurate and timely diagnoses across a spectrum of medical conditions, reinforcing their indispensable role in modern healthcare delivery.

Market Dynamics

Driver: Advances in Genetic Sequencing and Gene Therapy

Significant strides in genetic sequencing, human genome analysis, and medical genetics have revolutionized disease understanding, diagnostic accuracy, and drug development targets. A pivotal breakthrough in medical genetics is the emergence of gene therapy, which involves modifying or replacing genes to treat or prevent diseases. Already applied successfully in treating conditions like inherited blindness and severe combined immunodeficiency (SCID), gene therapy is poised to expand its impact further.

Future projections indicate that gene therapy will play an increasingly vital role in medical genetics, offering treatments for previously untreatable diseases. This trajectory is expected to fuel the growth of the genetic analysis market, as the demand for advanced genetic testing and analysis escalates to support the development and implementation of gene therapy treatments.

Restraint: Privacy Concerns in Genetic Analysis

Privacy concerns poses a major challenge in the genetic analysis domain due to the inherent uniqueness of genomic data, hindering true anonymization efforts. Additionally, security measures are crucial to restrict access to data based on authorized clearance levels, safeguarding against unauthorized breaches. Confidentiality emerges as a key ethical consideration, dictating the responsible sharing of genetic data. These privacy concerns, among others, including consent and data ownership, serve as significant restraints in the genetic analysis market. Addressing these challenges effectively is essential to ensure ethical practices and foster trust among stakeholders, thereby mitigating the barriers to market growth.

Opportunity: Integration of Artificial Intelligence in Genetic Analysis

The integration of artificial intelligence (AI) is revolutionizing clinical genetics, offering unprecedented opportunities for advancement. AI algorithms possess the capability to analyse vast volumes of genetic data rapidly and accurately, facilitating more precise diagnoses and tailored treatment plans. Furthermore, AI empowers predictive analysis of disease risk, enabling the development of proactive disease prevention strategies. In genetic engineering and gene therapy research, AI serves as a powerful tool, aiding in hypothesis generation and experimental techniques. Leveraging AI, researchers can detect hereditary and gene-related disorders with greater efficiency.

Moreover, AI-driven developments hold immense promise for rational drug discovery and design, ultimately impacting humanity's well-being. As AI and machine learning (ML) technologies continue to drive innovation in drug development, genetics emerges as a prime beneficiary, with AI expected to influence every facet of the human experience. This presents a compelling opportunity for the genetic analysis market to capitalize on AI-driven advancements and propel transformative growth.

Recent Developments

Key Players in the Clinical Trials Market

Segments Covered in the Report

By Product

By Test

By Technology

By Application

By End-use

By Geography

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Genetic Analysis Market Size to Attain Around USD 23.60 BN by 2033 - BioSpace

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Susan G. Komen Commends Bill Introduction; Urges Quick Passage

ST. PAUL, Minn., March 28, 2024 /PRNewswire/ --Susan G. Komen, the world's leading breast cancer organization, applauds Representative Patty Acomb (D-Minnetonka) for introducing legislation that would eliminate financial barriers to clinically appropriate genetic testing, as well as the recommended screenings based on the results of that testing.

In Minnesota, more than 5,480 people will be diagnosed with breast cancer and 630 are expected to die of the disease in 2024 alone. In the U.S., 5-10% of breast cancers are related to a known inherited gene mutation. The lifetime risk of breast cancer increases 20-49% for women with moderate risk inherited gene mutations and 50% or more for women with high-risk inherited gene mutations.

HF 5050, introduced by Rep Acomb, eliminates the patient out-of-pocket costs for multi-gene panel testing for inherited gene mutations and evidence-based screenings, ensuring individuals have access to critical information regarding their lifetime cancer risk and recommended early detection and cancer surveillance.

"Passage of this legislation will allow patients to better understand their lifetime cancer risk and access to needed risk reduction and treatment strategies," said Molly Guthrie, Vice President of Policy and Advocacy at Susan G. Komen. "Individuals should have all information needed to make informed decisions about their healthcare without burdensome financial barriers."

Germline testing is a type of test that looks for inherited mutations that have been present in every cell of the body since birth. These tests are conducted via the collection and analysis of blood, saliva or cheek cells. Identification of inherited cancer risk can help guide decisions regarding recommended screenings for the early detection of cancer, personalized cancer treatments and risk-reducing medical treatments.

Studies have shown an estimated 83 percent of eligible patients that underwent multigene panel testing had changes to their medical management, including modifications in follow-up and chemotherapy strategy.

"This legislation will ensure patients have equitable access to information concerning their lifetime risk of cancer, allowing them to make key decisions regarding risk reducing strategies and recommended screenings for early detection," said Rep. Patty Acomb.

According to a 2020 American Association for Cancer Research Report, 65% of young white women with breast cancer were offered genetic testing, while only 36% of young Black women with breast cancer were offered the same test options. Additional studies show that minority patients were more likely to utilize genetic testing following a cancer diagnosis but less likely following a family history of cancer, resulting in a missed opportunity for mutation detection and cancer prevention for these patients.

About Susan G. KomenSusan G. Komen is the world's leading nonprofit breast cancer organization, working to save lives and end breast cancer forever. Komen has an unmatched, comprehensive 360-degree approach to fighting this disease across all fronts and supporting millions of people in the U.S. and in countries worldwide.We advocate for patients, drive research breakthroughs, improve access to high-quality care, offer direct patient support and empower people with trustworthy information. Founded by Nancy G. Brinker, who promised her sister, Susan G. Komen, that she would end the disease that claimed Suzy's life, Komen remains committed to supporting those affected by breast cancer today, while tirelessly searching for tomorrow's cures. Visit komen.org or call 1-877 GO KOMEN. Connect with us on social at http://www.komen.org/contact-us/follow-us/.

CONTACT: Amanda DeBard Susan G. Komen (972) 701-2131 [emailprotected]

SOURCE Susan G. Komen for the Cure

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Bill Introduced in Minnesota Would Increase Access To Genetic Testing - PR Newswire

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Genes affected by germline structural variation could conceivably influence cancer risk.

Researchers at Baylor College of Medicines Dan L Duncan Comprehensive Cancer Center and Human Genome Sequencing Center investigated the extent to which forms of genetic variation called germline or inherited structural variation (SV) influence gene expression in human cancers.

Structural variation is one type of genomic variation and can be beneficial, neutral or, if it affects functionally relevant regions of the genome, can seriously affect gene function and contribute to disease, including cancer, said corresponding author Dr. Chad Creighton, professor ofmedicineand co-director of cancer bioinformatics at theDan L Duncan Comprehensive Cancer Centerat Baylor.

Structural variations are larger differences in the genome that occur when a piece of DNA is duplicated, deleted, or switched around, which can impact genetic instructions encoded in DNA and affect the expression of nearby genes. Previous studies led by the researchers have shown that structural variations occurring in specific cell types, like breast cells, can strongly influence gene expression in ways that contribute to transforming a healthy breast cell into a cancer cell.

Its known that germline structural variation also can contribute to the molecular profile of cancers, Creighton said. Here we study the extent of its contribution. The study is published in Cell Reports Medicine.

The researchers worked with data developed by the Pan-Cancer Analysis of Whole Genomes consortium, which includes whole genome sequencing data from 2,658 cancers across 38 tumor types involving 20 major tissues of origin. The team integrated these data with RNA data to identify genes whose expression was associated with nearby germline structural variations.

We found most of the genes associated with germline structural variations would not necessarily have specific roles in cancer, but for some genes, the expression variation might be associated with other conditions, Creighton said.

At the same time, several genes affected by germline structural variation could conceivably contribute to cancer, for instance if these genes have an established cancer association or an association with patient survival.

This study shows that germline structural variation would represent a normal class of genetic variation passed down through generations and may play a significant role in cancer development. The researchers propose that the subset of genes with cancer-relevant associations arising in this study would represent strong candidates for further investigation on their value in genetic testing.

Fengju Chen, Yiqun Zhang and Fritz J. Sedlazeck also contributed to this work.

This study was supported by the National Institutes of Health grant P30CA125123.

By Ana Mara Rodrguez, Ph.D.

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Genetic variation passed down through generations may influence cancer development - Baylor College of Medicine | BCM

Recommendation and review posted by Bethany Smith