Archive for the ‘Genetic Testing’ Category

Sponsored by Embark

Adam Christman, DVM, MBA: We talk a lot now about spectrum of care. What happens to the dog parents, unfortunately, who cannot afford the price of DNA testing? We really want to recommend it, but they just dont have the funds. What are your thoughts on that?

Jenna Dockweiler, MS, DVM, DACT, CCRT, CVAT: DNA testing is fairly cost effective and it will only become more so in the future. A dog's DNA is the same from the day it's born to the last day of that pet's life. So really at any point along that journey, it is appropriate to DNA test. Potentially in the future, as costs come down with just the testing technology itself, it will likely become more accessible for those folks.

Adam Christman, DVM, MBA: What about the practice that says, "We don't have the time for this?

Lindsey Kock, DVM: I think it's one of those things that taking the time to do that DNA test enables you to have more time later. By taking the time to do that test, you no longer have a full laundry list of things to cover at that puppy exam, but you have a few individual talking points.

We talked about compliance, but if you have the genetic testing to back up the recommendations, you're spending less time teaching and helping the pet parent to understand those things that come up. Something that really is a pretty quick, minimally invasive test, the results can be a lot, but Embarks done a great job of whittling down those results. You take that and you save yourself time in the long run. So it's a little effort for, I think, a huge increased efficiency and increased payoff in the long run.

Adam Christman, DVM, MBA: Okay, are there specific dog breeds that, I don't want to say they have predispositions, but need DNA testing more than other dog breeds out there?

Jenna Dockweiler, MS, DVM, DACT, CCRT, CVAT: We all know there are certain breeds predisposed to certain genetic conditions. I think that's a known truth at this point in veterinary medicine, but certainly testing is appropriate for every dog at every age. Even conditions that we see or think of as particularly breed-associated may not be as breed-associated as we thought, which the urate stones would be a great example of something like that.

And the dog's DNA is going to be the same from when it's born to the last day of that pet's life. So you can test it anytime during that spectrum. And some of these diseases won't manifest until later in life.

Adam Christman, DVM, MBA: I want to talk a little bit about taking away some of the financial issues or burdens that can happen. I find, personally, when you DNA test these dogs and puppies that are coming in, that the clients are more likely to say, oh, let me get pet insurance, just to help take away some of that financial stress that can happen down the road. Have you experienced that in your neck of the woods?

Lindsey Kock, DVM: Yeah, it'll be interesting to see how genetic results have an impact on health insurance. I think today, genetic results are really giving us more insight into potential issues down the road, right? And I think a lot of insurance coverage to my knowledge is based on actual diagnosed conditions that we're seeing clinical signs for, but using some caution too in that and potentially getting the insurance on board first and then doing the genetic test may not be a bad idea.

But I think too, aside from insurance, just being able to be financially prepared for decisions that you may have to make down the road, right? So we talked about intervertebral disc disease (IVDD) with those at an increased risk. Dogs who have at least one of those mutations tend to be at like 45 fold more increased risk of having an episode, but also out of five to 15 increased risk for needing surgery, right? So being able to prepare early for that financial burden and being able to be prepared for that decision, whether you're saving up or you have insurance is really important.

Adam Christman, DVM, MBA: I know we chatted a few years ago about this and I'll share the story with all of you out here because some of you, probably all of you, know I'm a huge dashchund fan. I did want to do the DNA testing for Clark W. Griswald and Lindsay was the one to say you really should, just so that way you know if there's the marker. Well, lo and behold, he did, and this past summer he did have inner vertebral disc disease. He did fantastic, but I expected it. I had pet insurance for him. Granted, I'm his veterinarian, but I can't do the surgery, but it made me so much more aware as a dog dad, knowing like, okay, I know what's gonna happen as much as I had dog ramps, and anything that you try to do. I didn't have that huge panic feeling especially with IVDD when the dogs go down.

Lindsey Kock, DVM: It is hard. Yes, like I don't care who you are. Getting a dog to keep quiet is hard.

Adam Christman, DVM, MBA: I remember talking to clients in the exam room about this with IVDD just because it could be so scary to see your dog walking all of a sudden just go down. But I tell them to be prepared, just like you were talking about, just to know what to expect in case. And I have noticed in my experience that these clients, they're more responsible with the decision-making. Yes, they're emotional, but not nearly as emotional because we already had that discussion. Have you heard that too exactly?

Jenna Dockweiler, MS, DVM, DACT, CCRT, CVAT: Exactly. It's a more proactive discussion, like we were talking about earlier, rather than reactive. So you can tell this client, hey, this is what you're gonna look out for. Maybe they're gonna be wobbly in their hind end, have some back pain, or maybe, go all the way down. They're not panicked about what could this be. It's already, I have a good idea of what this might be and I know I need to seek veterinary attention.

Adam Christman, DVM, MBA: Yes, absolutely.

Excerpt from:
Being prepared for the future - DVM 360

(Scott Sommerdorf | The Salt Lake Tribune) Researchers walk in one of the huge research labs at the Huntsman Cancer Institute, Wednesday, August 26, 2015.

By Josh Bonkowsky | For The Salt Lake Tribune

| April 10, 2024, 12:05 p.m.

Why should we get the test?

Cassies mother was not convinced that we should test her daughter for genetic mutations that could cause epilepsy. In class at school, Cassie (whose name Ive changed for privacy) had a generalized tonic-clonic seizure that lasted for 20 minutes. The next week, she started to have smaller seizures several times a day.

I am a pediatric neurologist, and every year we see more than 1,500 children with new epilepsy in our clinics and in our hospital. For Cassie, the important steps to understand and treat her epilepsy were to order an electroencephalogram or an EEG; to get a brain MRI scan and to test for genetic mutations. We started Cassie on lamotrigine, a very effective and safe anti-seizure medicine.

These decisions about how to take care of Cassie result from cumulative learning and the passing on of information from one generation to the next. Sometimes the chain of knowledge gets lost.

Our current knowledge about epilepsy diagnosis and care; and the field of medicine in general; are guided by the scientific method, one of the great triumphs of the Enlightenment, an 18th century intellectual movement that emphasized reason over superstition. The scientific method holds that we can learn facts and make hypotheses about ourselves and our world; and critically, that the hypotheses are testable.

Our newest tool for epilepsy is genetic testing. Several months after her first seizure, we did genetic testing for Cassie and found that she had a mutation in the SCN1A gene. The SCN1A gene works in the neurons of the brain to maintain a normal electrical balance. It turns out that lamotrigine is not a good choice for people who have SCN1A mutations and can worsen seizures over time. We stopped the lamotrigine and started a different medicine (clobazam). The genetic testing was critical for Cassies treatment.

This power to understand and treat diseases like epilepsy is a triumph of our biomedical enterprise; which is an accomplishment of our society, guided by the values of the Enlightenment.

These values are under threat from both commercialism and sciolism.

Commercialism or the belief that financial profit is valued above all else is corrupting our societys ability to provide equitable care. When I meet with families in my clinic, I have to ask what their insurance is, because I know that, for some, it will be difficult or impossible for them to afford the genetic testing or afford the best medicine.

Sciolism or the arrogance of absolute certainty leads to being convinced of something in the absence of actual knowledge. For example: Some of the families I work with are afraid to start an anti-seizure medicine for their child, or to get genetic testing, after reading about risks or misinformation on the internet. Anti-seizure medicines work very well and, as in Cassies case, genetic testing is important. It is a much bigger risk to a child, by a considerable amount, to not be treated or tested. There are, of course, definite limits of knowledge, and the potential for problems even if very rare. But the reality is that physicians and scientists provide true expertise that can prevent disease and save lives.

What we need is a re-Enlightenment.

The re-Enlightenment should incorporate dedication to the scientific method and valuing of the universal rights of a person, aspects missing from the original Enlightenment. People from disadvantaged and overlooked groups must be part of the discourse; and the importance of the spiritual can not be discounted. Policy decisions need to incorporate true equality of opportunity including housing, health care and financial stability for all persons, whether they are a university professor, a school teacher or a janitor.

The accomplishments of the Enlightenment are real, and we can take those best approaches and best values in a re-Enlightenment. We need a shared commitment that agrees upon rationality and a scientific approach for taking care of our children; that values our humanity and all of its members. The stakes are too high and too important to not take this on.

(Photo courtesy of Josh Bonkowsky) Josh Bonkowsky

Josh Bonkowsky, MD, PhD, is a professor of pediatrics at the University of Utah and director of the Center for Personalized Medicine at Primary Childrens Hospital. The views expressed here are his own and do not necessarily reflect those of his employer.

The Salt Lake Tribune is committed to creating a space where Utahns can share ideas, perspectives and solutions that move our state forward. We rely on your insight to do this. Find out how to share your opinion here, and email us at voices@sltrib.com.

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Opinion: Misinformation and profits keep doctors like me from offering Utahns the best care - Salt Lake Tribune

Sponsored by Embark

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

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

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/

References:

Contact: [emailprotected]

SOURCE INTERACT Coalition

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

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.

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

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

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.

SOURCE Quest Diagnostics

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

Sponsored by Embark

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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Personalized care and treatment plans - DVM 360

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

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

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

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

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

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

DUBLIN, March 27, 2024 /PRNewswire/ -- The"China Genetic Testing Market Report by Test Type, Disease, Technology, Service Provider, Testing Sample 2024-2032" report has been added toResearchAndMarkets.com's offering.

The China genetic testing market size reached US$ 4.3 billion in 2023. The market is projected to reach US$ 14.9 billion by 2032, exhibiting a growth rate (CAGR) of 14.9% during 2023-2032.

Genetic testing is becoming popular in China. It may benefit many different interest groups, such as individuals and families with a history of genetic disorder, pregnant women, employers, and health or life insurance. This market is currently driven by a number of factors such as rising awareness regarding the benefits of genetic testing, availability of direct to consumer tests and increasing incidences of genetic disorders.

Over the past few years, there has been a significant rise in the awareness levels regarding the benefits of genetic testing in China. Genetic testing provides various technologies that help in the early detection of various chronic diseases and ensures its treatment and prevention. Moreover, a rise in the availability of Direct to consumer tests (DTC) which has increased the convenience and accessibility of such tests is also creating a positive impact in the growth of the market.

Moreover, In October, 2015, China announced that the iconic one-child policy had finally been replaced by a universal two-child policy. This is expected to increase the number of babies born each year and create a positive impact on the demand of the new born genetic testing segment. Other major factors that are expected to drive this market include growing middle class, aging population, and expanding healthcare system.

This report provides a deep insight into the China genetic testing market covering all its essential aspects. This ranges from macro overview of the market to micro details of the industry performance, recent trends, key market drivers and challenges, SWOT analysis, Porter's five forces analysis, value chain analysis, etc. This report is a must-read for entrepreneurs, investors, researchers, consultants, business strategists, and all those who have any kind of stake or are planning to foray into the China genetic testing industry in any manner.

Key Questions Answered in This Report

Competitive Landscape

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China Genetic Testing Analysis Report 2024: Market to Reach $14.9 Billion by 2032 from $4.3 Billion in 2023, Driven ... - PR Newswire

Genetic testing done for a 55-year-old woman diagnosed with an unusually mild case of AADC deficiency revealed a disease-causing gene mutation never before reported, according to researchers.

The newly identified mutation, while indeed found to be a cause of the patients genetic disease, still allowed for the relatively preserved function of the AADC protein. The researchers said in a case report that the increased protein function may be why the patients symptoms were mild.

Details were given in An attenuated, adult case of AADC deficiency demonstrated by protein characterization, which was published in the journal Molecular Genetics and Metabolism Reports. The work was funded in part by PTC Therapeutics, makers of the AADC deficiency gene therapy Upstaza (eladocagene exuparvovec).

The researchers said their approach in the womans case provided the molecular basis for the mild presentation of the disease, and added that the experience can also be useful for personalized therapeutic decisions in other mild AADC deficiency patients.

AADC deficiency is caused by mutations in the DDC gene, which provides instructions for making the eponymous AADC enzyme. This enzyme is needed to make brain signaling molecules, or neurotransmitters, like dopamine and serotonin. Abnormally low levels of these neurotransmitters in AADC deficiency lead to disease symptoms.

Most people with AADC deficiency who do not receive treatment have very little ability to move or speak on their own. In marked contrast to the typical picture of severe disease, this patient had only some cognitive abnormalities and occasionally experienced moments of weakness in her legs. Overall, her cognitive issues were fairly mild, and she was able to walk and ascend stairs without too much difficulty.

The patient reported that her siblings also had experienced cognitive issues, and that, as a child, she had sometimes experienced episodes where her eyes would roll upward when she was tired. With the benefit of hindsight, the researchers suspect these childhood episodes may have been oculogyric crises, a characteristic symptom of AADC deficiency.

The woman sought medical attention in her mid-50s because she was experiencing mood swings, and the episodes of weakness in her legs had been getting worse, leading to sudden falls.

Analyses of the fluid around the patients brain indicated low levels of dopamine and serotonin, consistent with a diagnosis of AADC deficiency.

Tests of her blood showed AADC enzyme activity was about 28% of whats considered normal which is low enough to qualify for AADC deficiency, but only just, given that healthy AADC carriers typically have activity of 35% to 40%.

Every individual has two copies of the DDC gene, with one inherited from each biological parent. AADC deficiency only develops if both copies are mutated. Carriers, meanwhile, have one mutated copy and one healthy copy and, as such, dont develop disease.

Genetic testing of this patient showed one of her DDC genes carried a mutation dubbed p.Arg347Gln, which has previously been reported to cause AADC deficiency. Her other copy of the gene carried another mutation, p.Glu227Gln, which has never been reported before.

To better understand the molecular basis for this patients unusually mild symptoms, the researchers conducted a series of tests to characterize this combination of mutations. The AADC enzyme normally functions as a dimer that is, two individual AADC enzymes join together to carry out the enzymes function.

The researchers found that when an AADC dimer contained two proteins both with the known disease-causing mutation p.Arg347Gln, the dimer had essentially no ability to function at all. By contrast, an AADC dimer with two enzymes carrying the novel p.Glu227Gln mutation had near-normal functionality. A dimer containing one enzyme with each mutation had about 75% of the activity of a normal AADC dimer.

Altogether these data suggest that these two mutations cause AADC deficiency that is characterized by comparatively high enzyme activity likely explaining why this patient had such mild symptoms.

After the diagnosis of AADC deficiency was confirmed, the patient was started on treatment with vitamin B6 (pyridoxine). She reported more energy and less fatigue after starting the treatment.

Interestingly, in the last few years, many previously undiagnosed or misdiagnosed patients have been identified as mild cases of AADC deficiency, expanding the phenotype [characteristics] of this neurotransmitter disease, the researchers wrote.

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Unusually mild case of AADC deficiency reveals new gene mutation - AADC News

Alzheimer's and Genetic Testing: Your Questions Answered  Healthline

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Alzheimer's and Genetic Testing: Your Questions Answered - Healthline

The Evolving Treatment Landscape in EGFR Mutated NSCLC and the Role of Comprehensive Genetic Testing in ...  Cancer Network

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PART II: The Legalities of Pre-Natal Genetic Testing  American Council on Science and Health

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PART II: The Legalities of Pre-Natal Genetic Testing - American Council on Science and Health

Cord Blood Registry (CBR) by CooperSurgical and Fulgent Genetics Launch Innovative Genetic Testing  PR Newswire

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Cord Blood Registry (CBR) by CooperSurgical and Fulgent Genetics Launch Innovative Genetic Testing - PR Newswire

Australian life insurers support industry ban on use of genetic testing results  Proactive Investors UK

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Australian life insurers support industry ban on use of genetic testing results - Proactive Investors UK

Predictive genetic testing helps breast cancer patient Tammy Goodsell  East Kent Hospitals University NHS Foundation Trust

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Predictive genetic testing helps breast cancer patient Tammy Goodsell - East Kent Hospitals University NHS Foundation Trust

Significance of Early Genetic Testing in HRR-Mutated mCRPC Highlighted by Real-World Observations  Targeted Oncology

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Significance of Early Genetic Testing in HRR-Mutated mCRPC Highlighted by Real-World Observations - Targeted Oncology

Genetic testing saves lives but can lead to discrimination when it comes to life insurance  ABC News

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Genetic testing saves lives but can lead to discrimination when it comes to life insurance - ABC News