Archive for the ‘Genetic Testing’ Category

SALT LAKE CITY, Oct. 28, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that it will present results from seven studies at the 2019 National Society of Genetic Counselors (NSGC) annual meeting being held Nov. 58, 2019 in Salt Lake City.

"We are excited to present new data from seven studies at this years NSGC meeting," said Susan Manley, MS, CGC, MBA, senior vice president of Medical Services at Myriad Genetics. Our presentations highlight the companys commitment to advancing precision medicine in oncology and womens health.

A list of presentations at 2019 NSGC is below. Please visit Myriad Genetics at booth #711 to learn more about our leading portfolio of precision medicine products. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #NSGC19.

myRiskHereditaryCancer

ForesightCarrierScreen

AishwaryaArjunan

PrequelTMPrenatalScreen

About Myriad myRisk Hereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.

AboutForesight Carrier ScreenThe Myriad Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions. Foresight has a rigorous disease selection that focuses on 175+ conditions that provides meaningful information to patients. Additionally, Foresight offers superior technology with unmatched detection rates for the vast majority of genes on the panel (>99% across ethnicities) which means patients can trust both positive and negative results.

About PrequelTM Prenatal ScreenThe Myriad Prequel Prenatal Screen is a noninvasive prenatal screen that uses cell-free DNA (cfDNA) to determine if a pregnancy is at an increased risk for chromosome abnormalities, such as Down syndrome. Prequel has been shown to be superior to screening methods that use maternal age, ultrasound and serum screening. Additionally, Prequel has a lower false-positive rate and false-negative rate than these other methods. The Prequel Prenatal Screen can be ordered with the Foresight Carrier Screen and offered to all women, including those with high body mass index, and ovum donor or a twin pregnancy.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to data being presented for its genetic tests at the 2019 National Society of Genetic Counselors Meeting being held Nov. 58, 2019 in Salt Lake City; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting - BioSpace

A two-time cancer survivor learns more about pancreatic cysts and discusses the value and cautions of genetic testing.

Barbara Tako is a breast cancer survivor (2010), melanoma survivor (2014) and author of Cancer Survivorship Coping ToolsWe'll Get You Through This. She is a cancer coping advocate, speaker and published writer for television, radio and other venues across the country. She lives, survives, and thrives in Minnesota with her husband, children and dog. See more at http://www.cancersurvivorshipcopingtools.com,or http://www.clutterclearingchoices.com.

Intraductal Papillary Mucosal Neoplasms in my pancreas are the latest "lovely" thing that cancer has brought into my life. Well, it is not my first time around - I have already had breast cancer and melanoma. My particular IPMNs may not be or ever become cancer, and yet they subject me to play the "wait and watch game" with one more cancer-type thing.

If you are a cancer survivor, you know how that gameworks - try to move forward with life while not pre-worrying too much. How were my IPMNs found? I had a screening MRI because of my PALB2 genetic cancer mutation. Sometimes IPMNs are found by accident when having an MRI for an unrelated reason. Gotta love technology!

The way one doctor worded it, I was fortunate to have the PALB2 genetic mutation that prompted the MRI that caught these three IPMNs so early and will result in continued monitoring. Cancer survivors all learn that cancers caught early often have better outcomes than cancers that have already grown and spread. Pancreatic cancer has a poor survival ratebecause it is often caught too late. There is a moral to that story that I want to shout from the rooftops: Please, please see a geneticist and have genetic testing done!

Still, there is a potential dark side to genetic testing. It sounds like if a person has a genetic finding and wants to have children, they may be able to screen out embryos that get the mutation before implanting them. Hm. Hey wait a minute:I would have been one of those screened-out embryos if the technology had existed back in that day and my parents had chosen that route. So, yes, genetic testing is a choice,but meeting with a genetic counselor before the testing is decided upon is also very important.

There are many questions to consider before even getting testing done. To test or not to test? How much do you want to know? What happens once that knowledge is out there?A person can't be discriminated against for health care due to genetic test results, but life or disability insurancecoverage, among others, may be a different story. Also, if you choose genetic testing, how often do you go back and get re-tested? Exciting advances are happening rapidly in this field. When I first got tested nine years ago, they only tested a couple of breast cancer genetic mutations. My latest genetic test looked for nineteen mutations - and found my PALB2!

Of course in my case, I GoogledIPMNs and learned lots of frightening stuff before I met with the pancreas specialist. For IPMNs, location and size matter, and I am fortunate that mine are very small and not in worrisome locations. They are also too small for fine needle aspiration or surgery. I will have another MRI in about a year to watch for changes. This means that if they do start to appear cancerous, I may have surgical options to consider which might, in my case, provide a better prognosis than usual for pancreatic cancer.

Genetic testing leaves me optimistic, grateful, and yes, cautious. Please be careful out there, make thoughtful choices, and be sure your sources of information are reliable.

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Things to Consider in Genetic Testing - Curetoday.com

If youre a dog owner, you can buy your pet bespoke treats, you can put them in a red vest and take them everywhere you go, and you can accessorize them to the hilt. Cats rarely get in on this fun (only a self-hating feline will allow the application of a costume), so the industry tends to leave them behindwhich is probably just what they want.

Look, we get it. Your dog loves you and is your proverbial best friend. Cats are cruel and soulless. And yet, millions of us simply prefer the company of felines, and its not just because your dog smells bad and drools all over the place. Its just in our DNA.

Speaking of which, while dog owners have scads of options for testing their pups DNA, cat owners have largely been left out in the cold by the genetic testing industry. And while most cat owners arent dying to get on the cloning bandwagon the way dog owners are, that doesnt mean we dont want to know more about our pets heritage and health, even if science could care less.

We have two cats, but when my wife and I talk about genetic questions, they revolve around Saffy, our 6-year-old specimen who most would charitably describe as a mix. Shes about eight different colors, with an orange splotch on her back and another on one ear. Equally charitably, one would say she is eccentric. Few believe me when I say that she spends all day in our bed, under the covers. I mean all day: She crawls in around 8 am and doesnt come out until 5 pm. And she is absolutely terrified of everything. If a delivery driver pulls into the driveway during her awake hours, she runs to the safety of the covers. The doorbell throws her into a full-on panic. My wife says shes a babe.

Photograph: Susanne Bergstrom Null

I write all of this because I have a lot of questions about Saffy. What kind of cat(s) is she? And why is she such a freak? Could it be a medical condition?

Enter Basepaws, one of a very small number of services that promise to sequence your kittys DNA, revealing information about both breed and ancestry as well as scanning for numerous markers that could indicate elevated risks for certain diseases. If youve ever taken a human DNA test, you know how this goes. You swab the inside of your cats mouthnot hard if you have a helperand drop the swab into a test tube. You then mail it off to Basepaws and wait for the results to come back.

We swabbed, mailed, and waited, and eventually I received Basepaws report in two pieces. First came the health results, then the genetic report was later appended to it. The report takes the form of a massive PDF34 pages long for lil Saffand it certainly feels full of information. The health data is weighty, including information on 17 diseases based on 39 genetic markers. I was surprised, but happy, to see that Saffy was in the clear on all of them, with no risks noted. She wasnt even a carrier of any genes that would put her at risk of disease, though Saffys clearly not meant for breeding. From polycystic kidney disease to mucopolysaccharidosis, Saffy appears to be free of major ailments and is destined to have a long and happy life ahead of her, safely tucked away in bed.

The breed report is somewhat more complex and is indicative of the general lack of available scientific information about cat breeds and ancestry. An introduction in the report notes that cats are comparably wild in comparison to dogs and other animals, that theyve not changed all that much in thousands of years. And while cat breeds are definitely a thing, by and large cats just arent bred nearly as much as dogs are. The result: 95 percent of cats in the world are of mixed breed, referred to in the report as polycat.

Polycat doesnt mean a mix of a couple of known breeds, it basically means a mix of all the breeds. Its the common part of the genome that the reference genome (felis_catus_9.0) doesnt really have enough information about. The genes in the polycat segment could relate to Russian Blue, or they could be Egyptian Mau. They just dont know yet. Sure enough, Saffys reportand I expect most reportspeg her at nearly 46 percent polycat.

The rest of the report is where the fun is, with Basepaws breaking down the breeds into four major groups: Western, Eastern, Persian, and Exotic. Saffys other 56 percent has traits related to all four of these groups, and her mix of those groups is roughly 37, nine, six, and three percent, respectively. Basepaws then breaks down those four breed groups by detailing three to seven cat breeds within each. These are ranked based on similarity to your cat, though you dont exactly get a specific breakdown like you do with, say, Ancestry.com. While Basepaws tells me Saffy is mostly Burmese within that 9 percent Eastern group, theres no estimate that shes, say, 6 percent Burmese overall, which would be a lot more fun.

Photograph: Basepaws

Basepaws does get to this information in a sort-of roundabout way in full-page descriptions of each of the top four sub-breeds under the four main categories. So for Saffy, that was American Shorthair (of course), Burmese, Bengal, and Exotic Shorthair. On the relevant page, Basepaws tells me that Saffy is more similar to the American Shorthair than 72.76 percent of all other cats in our database. Thats interesting, but it ultimately tells me more about the Basepaws database than Saffys genetics. Shes 54.67 percent more similar to a Burmese than all the other cats in the Basepaws database yet only 9 percent of her genetics are even in that family. In fact shes also more similar to both Bengal and Exotic Shorthair than more than 50 percent of cats in the database, which would seem to indicate shes got a lot of different cat types in her. Essentially shes the everything bagel of cats.

The Basepaws report can be a bit confusing, and it doesnt feel complete in large part because it cant be complete. Theres just not enough information about cat breeds available to make for a full picture. Basepaws notes that as it collects more data, it will be able to chip away at that polycat component, though some updates will cost extra (pricing is still being worked out).

As curious as the Basepaws report is, the company still seems to be having some growing pains. It took two months for the health report to come in, and nearly another month to receive Saffys genetic profile. Thats a long time. In cat years thats like 18 months.

At $99, Basepaws is priced the same as AncestryDNA (for people), though its still the least expensive and seemingly the most full-featured cat DNA testing product on the market. HomeDNAs Cat DNA kit runs $125; Optimal Selection has a $100 kit targeted mainly at breeders, and those are the only other options Ive been able to find. Any way you cut it, DNA testing your kitty is a pricey affair, though those concerned about hereditary diseases may find the added peace of mind more than worth it.

Your cat, of course, could not care less.

Basepaws' Cat DNA test is available directly from the company's website, or from Amazon.

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Basepaws' $99 Cat DNA Test Tells You What's Truly Wrong With Your Cat - WIRED

DNA testing giant Ancestry.com LLC is entering the growing and potentially lucrative field of genetic health screenings with a strategy thats markedly different from that of its biggest competitor.

Ancestry said last Tuesday that its new consumer health tests an area the genealogy-focused company has been slow to embrace will require authorization by a physician.

Its main competitor, 23andMe Inc., went through the lengthy and expensive process of getting approval from the U.S. Food and Drug Administration so it can sell its tests directly to customers without a prescription.

The involvement of doctors in Ancestrys tests places it in the midst of a debate over whether physician-ordered genetic screening is merely a way for companies to avoid the regulatory scrutiny of the FDA. Several other DNA startups, including Color and Veritas, also require a doctor to order health tests.

The FDA hasnt intervened in the field of physician-ordered genetic tests, although it has signaled an intent to do so. So far, a doctors involvement has been considered enough protection for consumers, even if a patient has little interaction with the physician. Its unclear whether the entrance of a major player like Ancestry might change that.

I suspect that FDA is going to eventually do something as these tests begin to enter our world in a big way, said Robert Cook-Deegan, a professor at the University of Arizona who studies genome ethics and the law.

Ancestry Chief Executive Officer Margo Georgiadis said the company wanted to focus on providing ways for its tests to integrate easily into the care patients receive from their regular doctors.

Thats really why we chose a path that has a doctor, she said, so that the consumer not only can find out a risk factor, but they can seamlessly take a lab report with clinically recommended guidelines into the doctors office so that theres a clear next path for action.

After ordering a health DNA test from Ancestry, customers must fill out a brief medical history survey, which Ancestry then funnels to an outside network of doctors and genetic counselors employed by PWNHealth LLC to approve the test.

Once the results are in, those doctors review them and make sure that patients receive the appropriate educational materials alongside their results. For example, if results show a harmful variant of the BRCA 1 or 2 genes, a customer would receive a video explaining hereditary breast and ovarian cancer syndrome. Its a model similar to that followed by other genetic-testing companies.

Ancestrys health tests include free access to a genetic counselor. And before disclosing potentially troubling results, the company requires consumers to watch educational material about the condition. The reports also include clinical reports that a customer can share with their doctor.

If you have a finding thats important, you will have all the tools you need to learn more about it, said Catherine Ball, Ancestrys chief scientific officer.

But according to Cook-Deegan, the university professor, most consumers may not understand the limitations of the test.

A lot of whether this is a good thing or a bad thing depends on the quality of their testing, he said. It depends on the degree to which those physicians are really involved and the degree to which the genetic counseling is truly incorporated into the process.

Companies that offer genetic testing outside of the health-care system should be expected by regulators to show that their tests can successfully be integrated into that system in order to actually improve customers health, said Michael Murray, the director of clinical operations at Yale Universitys Center for Genomic Health.

I havent seen anything from a company thats doing this from outside of health care that demonstrates anything, he said.

Lehi, Utah-based Ancestry entered the genetic-testing market seven years ago, and with more than 15 million kits sold has become the dominant player in the ancestry DNA testing space.

In its move into health testing, it will introduce two products. Its less-expensive version, AncestryHealth Core, made its debut Tuesday. For $149, it delivers information about a handful of disease risks and health conditions, including breast cancer, as well as the original ancestry test.

A premium product, AncestryHealth Plus, which will launch early next year. It will decode the genome in far greater detail. It will cost $199, with a membership fee of $49 for six months of updates.

Georgiadis said the company didnt plan to seek FDA approval for its tests anytime soon.

Were a consumer-centric company, she said. And I truly believe that business models drive behavior. Our goal is to help people gain the preventative knowledge so that they personally can take action for their health.

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Ancestry's DNA health screening to require a physician's order - The Union Leader

Genetic testing promises customers insights into ancestry and potential health risks. But for one Durango family, the testing also identified a new family member.

Lindsay Breed, 32, sent her saliva sample to 23andMe, a genomics and biotechnology company, two years ago to learn more about her predisposition to certain health conditions.

About a year later, in September 2018, Breed received a message through 23andMe from Jean Griffin, 62. Griffin reached out to Breed to say she thought she might be Breeds first cousin based on their DNA test results.

But the three-decades age difference between Griffin and Breed was too great. Breed and her mother, Lori Moss, looked deeper into the DNA match and family ancestry and determined Griffin must be Moss half sister.

A phone call settled the question.

I pretty much knew right away she was related to me, there were so many similarities, said Moss of Durango.

Griffin and Moss have the same height, shoe size, walk and sense of humor, she said. All qualities they inherited from their father, Clifford Carlson of Durango.

Griffin, Moss and their brother, Gregg Carlson, all clicked and still talk regularly. The three all grew up in the same area despite never knowing each other Moss and Gregg Carlson in Long Island and Griffin in Connecticut, where she still lives.

I feel like I hit the jackpot, Griffin said.

Clifford Carlson, 84, had no idea Griffin had been born as a result of a brief and casual relationship, Moss said. When Moss broke the news to her father, he was stunned, but the next day he called Moss back and asked for Griffins phone number.

Griffin and Carlson met for the first time this summer at Durango-La Plata County Airport.

It felt like an out-of-body experience, Griffin said.

Griffin knew she had been adopted and requested information about her birth parents 20 years ago through a TV show. But she didnt keep looking for information because her adoptive parents were still alive. She initially took a genetic test because she was interested in finding out more about her ancestry, but then she found her birth mother. She took the 23andMe test because she was interested in what more she could learn about her family history.

As genetic testing increases in popularity, its likely many other families are making similar discoveries all the time. At the beginning of the year, an estimated 26 million people had taken tests through four DNA testing companies, according to MIT Technology Review.

Moss advises those interested in taking a DNA test talk with family members about it.

Family members should reach out to other family members and say: I am about to do this. Are you going to be OK? Are you going to be OK if I find some hidden relatives that you didnt know about? Moss said.

If test-takers are hopeful about finding relatives, Griffin said they need to be ready for all kinds of outcomes.

It can be disappointing. ... There is a lot of not-so-good scenarios, she said.

Griffin said she approached her birth family just hoping to get to know them. She feels she got lucky.

They have been nothing but wonderful from the word go, she said.

Moss said when she first learned about Griffin she tried think about the situation from her sisters perspective.

If I was her, I would want to know my biological family, too, she said.

mshinn@durangoherald.com

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62-year-old woman meets Durango father for the first time - The Durango Herald

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6. View full coverage on Google News

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Sinclair Cares: Genetic testing can help you check your risk of getting breast cancer - News3LV

ALISO VIEJO, Calif., Oct. 23, 2019 /PRNewswire/ --Ambry Genetics(Ambry), a leading clinical genetics company, announced today the publication in JAMA Network Open of a study on retrospective RNA genetic testing for hereditary cancer risk. The study reveals that adding RNA testing could provide more accurate results for one out of every 43 patients undergoing DNA testing and could improve medical care. Now, through +RNAinsight,Ambry is the first and only lab to offer a commercially available clinical test to conduct RNA and DNA genetic testing for hereditary cancer risk at the same time.

DNA testing is a powerful tool used to tailor medical care based on an individual's cancer risk. However, standard DNA testing can produce inconclusive results, find a change in our DNA to be a variant of unknown significance (VUS), and fail to determine whether it increases cancer risk. When this happens, healthcare providers might not have the information needed to recommend appropriate preventive and early detection steps, or certain therapeutic treatments, and relatives may not be referred for genetic testing for their own care. Adding RNA to DNA testing can overcome this limitation, providing more evidence that can determine whether a variant increases cancer risk.

In this study, investigators fromAmbry and collaborating institutions (Dana-Farber Cancer Institute, Cedars-Sinai Medical Center, Rutgers Cancer Institute, and University of Kansas Cancer Center) evaluated the ability of RNA genetic testing to help determine whether certain VUSs actually increased cancer risks and whether patient care changed after those determinations.

For a substantial percentage of the VUS tested, the study found that adding RNA to DNA testing determined whether they actually increased cancer risk. Specifically, RNA genetic testing clarified 88 percent of 56 selected VUS, determining that 47 percent were actually disease-causing and 41 percent were benign. In addition, all of the patients whom Ambry previously tested and who had these same VUS, received updated reports. As a result, an additional 88 patients had their inconclusive results clarified as positive (i.e., increased risk for cancer) and 322 had their inconclusive results clarified as negative.

"Adding RNA genetic testing to standard DNA testing for hereditary cancer risk needs to be the standard of care," said Rachid Karam, MD, PhD, Director of the Translational Genomics Lab at Ambry Genetics. "Our data shows +RNAinsight will let thousands of more patients know if they have genetic variations that increase their risks for cancer and take action."

The study also found that determining whether a VUS in fact increases a patient's cancer risk can substantially impact that patient's care. Of the clinicians who received clarified results and responded to a study survey, 44 percent changed their care for patients and 78 percent changed their care for patient relatives. For example, for those patients whose results for the BRCA1 gene were changed from VUS to disease-causing, new recommendations included risk-reducing surgeries and increased cancer surveillance.

When assessing the types of variants identified in a cohort of 307,812 patients who had undergone standard DNA testing at Ambry Genetics for hereditary cancer risk, the study determined that 7,265 or one in 43 patients could benefit from the addition of RNA genetic testing. Given that 700,000 people in the United States are expected to receive genetic testing for hereditary cancer risk in 2019, more than 16,000 individual results could change and be clarified with RNA genetic testing annually.

The study further showed that only 10 percent of patients invited to receive RNA genetic testing after having undergone DNA testing actually sent in samples. Given the substantial loss-to-follow-up from retrospective RNA testing and the proportion of patients estimated to benefit, Ambry has decided to make RNA genetic testing available to all patients at the same time as DNA testing through +RNAinsight, which is now available through doctors and genetic counselors around the country. For more information, please go to RNAinsight.com.

About Ambry Genetics

Ambry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinicallyactionabletest results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions.For more information, please visit ambrygen.com.

For more information on risk factors for hereditary cancer, please visit cancer.gov's fact sheet on hereditary cancer and genetic testing.

Press Contact:Liz Squirepress@ambrygen.com202-617-4662

SOURCE Ambry Genetics

http://www.ambrygen.com

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Ambry Genetics Published Data that Finds Adding RNA Genetic Testing Provides More Accurate, Actionable Results for Patients who Receive DNA Testing...

As more people dig into their family roots, seemingly, many are equally inclined to satiate their curiosity about their hereditary risks for conditions such as cancers, heart disease and diabetes.

This consumer interest in ones healthcare is aligning with health systems desire to lower costs through better population health management. New Orleans based Ochsner Health System announced last week that it is launching a digital population health screening program where people can learn about their family history of disease by identifying increased risk for diseases like those. Ochsner has selected Burlingame, California-based Color to perform the gene testing and analyze results.

The program, formulated byOchsners innovation lab, innovationOchsner (iO) will identify patients particularly vulnerable tohereditary cancers and heart disease and recommend them for testing in this pilot program. Specifically, the program will test:

A testing kit will be sent to the homes of selected patients, who will, in turn, send a DNA sample. Once the results are in,Colors services and tools allow for a deep dive into health discussions and help ease family sharing, explained Richard Milani, chief clinical transformation officer, Ochsner Health System and Medical Director, iO, in a phone interview.

Ochsner clinical teams can talk further about care plans with patients and help them deal with the proceeding steps within the healthcare system, Milani continued. The results will be integrated into Ochsners EHR system.

This isnt so much a research study as it is actionable; something that can go into the clinical record appropriately, securely and safely, so that our primary care physicians and specialists are involved and we can take appropriate actions for patients at high risk for (those conditions), he noted.

Almost two million individuals in the U.S. are at heightened risk for less than ideal health outcomes traced to the fact that they have genetic mutations with one of the three conditions. Milani noted that, potentially, with a higher degree of surveillance or earlier intervention, these health issues could have been circumvented.

Ochsner is not the only health system interested in genomics. Geisinger, the health system in Pennsylvania, announced in 2018 a wide-scaleDNA-sequencing programfree for patients.

There are several gene testing players in the market including 23andMe and Helix. Milani noted that Ochsner selected Color because the company met all the lab criteria, including certification by Clinical Laboratory Improvement Amendments (CLIA). Whats more, Milani remarked, unlike some of its competitors, Color conducts secondary confirmation of abnormal results and offers genetic counselors who review results with and spend time with patients.

They were very thorough in their methodology and confirmation, very robust in genetic counseling, he noted.

Color uses clinical-grade genetic testing technology while also providing support to individuals and providers with genetic counseling services, which direct to consumer genetic testing doesnt, said Caroline Savello, Colors vice president of Commercial and lead on the partnership, in a phone interview

Color, for its part, wants to make genetic testing aseasy as possible for patients to access.

(The way its been, a patient) has to come in, see multiple people, get a referral for genomics clinic, wait four to six weeks tor appointment, said Caroline Savello, Colors vice president of Commercial and lead on the partnership, in a phone interview. Today, however, samples can be collected at home, and people can educate themselves on what theyll be able to learn from a test, pose questions to trained specialists by phone and learn those results in a way that really reduces the exceptionalism of the technology of genomics.

Earlier this year, the National Institutes of Health awarded Color a $4.6 million grant to serve as the nationwide genetic counseling service for their All of Us Research Program.

She added that once genetic testing becomes more accessible, you see much higher compliance rates, greater engagement and much higher completion rates of even simple things like health history.

There is some work that providers need to do to make genetic information understood and actionable.

I dont think that, in general, health industries are well prepared to consume this information and manage it appropriately. We need to be able to educate our workforce to house data appropriately and use it to change for health maintenance.

Photo: iLexx, Getty Images

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Inside Ochsner Health System's partnership with Color to offer certain patients gene testing - MedCity News

Asia Pacific Prenatal and Newborn Genetic Testing Market to 2027 Regional Analysis and Forecasts by Type, Disease Indication, Technology, and End User. The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 2,570.

New York, Oct. 24, 2019 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Asia Pacific Prenatal and Newborn Genetic Testing Market to 2027 - Regional Analysis and Forecasts by Type, Disease Indication, Technology, End User and Country" - https://www.reportlinker.com/p05815381/?utm_source=GNW 37 Mn in 2027 from US$ 878.28 in 2018. The market is estimated to grow with a CAGR of 12.8% from 2019-2027.The key factors responsible for the growth of the market in Asia Pacific are rising burden of genetic diseases among infants, increasing fertility rates and developing healthcare scenario with rising awareness among populace regarding the benefits of prenatal testing.On the other hand, use of digital microfluidics in newborn testing is likely to be a prevalent trend in the future years.

Soaring birth rates among developing economies are responsible for fueling global baby boom.However, the rising birth rate also contributes to rising birth defects and infants suffering from several genetic diseases.

According to a report published by Bill and Melinda Gates Foundation in 2018, there are almost 250 babies born every minute around the globe. Moreover, according to the Centers for Disease Control and Prevention, the fertility rates for Hispanic women was highest in 2017 among Hispanic women with 67.1 births per 1,000 women.Asian countries such as India and China also have high fertility rates due to factors such as effects of religion, inadequate supply of family welfare services, poverty, and others. According to the World Bank in 2016, the fertility rates in India were reported to be 2.23 births per women as compared to 1.80 in the United States and 1.62 in China. Moreover, neighboring countries in India, such as Pakistan also has alarming rates of fertility. In 2016, the birth rate in Pakistan was reported to be 3.48 births per woman as per the World Bank data. However, the birthrate in India have successfully reduced its high fertility rate, but still is high as compared to other developed nations. According to the United Nations (UN) report published on June 2019, the fertility rate has reduced to 2.1. Therefore, by 2050 additional 273 million people will be added to Indias population. The increasing number of parturient women across the world are thus likely to create increasing demand for prenatal and newborn genetic tests across the globe leading to the growth of the market.The Asia Pacific prenatal and newborn genetic testing market, based on the disease indication was segmented into cystic fibrosis, sickle cell anemia, downs syndrome, phenylketonuria, recurrent pregnancy loss, and Antiphospholipid syndrome, and other diseases.In 2018, Down syndrome segment held the largest share of the market, by disease indication.

The highest share of Down syndrome attributes to the high prevalence of this genetic abnormality among fetuses and availability of multiple tests for its screening and diagnostics. However, the cystic fibrosis segment is expected to grow at the fastest rate during the coming year.Some of the major primary and secondary sources for prenatal and newborn genetic testing included in the report are Food & Drug Administration (FDA), Indian Institutes of Technology (IITs), International Trade Administration (ITA), Japan Society of Obstetrics and Gynecology (JSOG), Council of Scientific and Industrial Research (cSIR), Pakistan Down Syndrome Association (PDSA) and others.Read the full report: https://www.reportlinker.com/p05815381/?utm_source=GNW

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The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 2,570.37 Mn in 2027 from US$ 878.28 in 2018. The market is...

In April 2018, California authorities revealed that theyd used a novel investigative technique to arrest a man they called the Golden State Killer, a serial murderer whod escaped capture for decades.

For the first time, police had submitted DNA from a crime scene into a consumer DNA database, where information about distant relatives helped them identify a suspect.

The announcement kindled a revolution in forensics that has since helped solve more than 50 rapes and homicides in 29 states.

But earlier this year, that online database changed its privacy policy to restrict law enforcement searches, and since then, these cold cases have become much harder to crack. The change is allowing some criminals who could be identified and caught to remain undetected and unpunished, authorities say.

There are cases that wont get solved or will take longer to solve, Lori Napolitano, the chief of forensic services at the Florida Department of Law Enforcement, said.

The switch was imposed by GEDmatch, a free website where people share their DNA profiles in hopes of finding relatives. The company had faced criticism for allowing police to search profiles without users permission, and decided that it would rather make sure members understood explicitly how investigators were using the site. So, it altered its terms of service to automatically exclude all members from law enforcement searches and left it to them to opt in.

Overnight, the number of profiles available to law enforcement dropped from more than 1 million to zero. While the pool has grown slowly since then, as more people click a police-shield icon on GEDmatch allowing authorities to see their profile, cases remain more difficult to solve, investigators say.

CeCe Moore, a leading specialist in using DNA evidence and family trees to identify criminal suspects a method known as investigative genetic genealogy depends on GEDmatch for her work. After entering a suspects DNA profile into the site, she reviews the results and assesses the likelihood of law enforcement being able to determine the suspects identity. She then scores each case from 1 to 5, 1 being a sure thing and 5 a long shot.

Im giving a lot more fives than I used to, said Moore, who helped solve several cases using GEDmatch before the site changed its terms of service, including the 1987 killing of a young Canadian couple, the 1988 murder of an 8-year-old Indiana girl and the 1992 rape and strangulation of a Pennsylvania schoolteacher.

This sharp drop in the usefulness of a promising technology has sparked an effort by law enforcement authorities and researchers like Moore to convince the public to take action. These groups hope to persuade more Americans to obtain their DNA profiles from direct-to-consumer genetic testing companies most of which have large databases but dont allow law enforcement searches and share them publicly, including with law enforcement, on databases like GEDmatch. One direct-to-consumer company, FamilyTreeDNA, allows law enforcement to search its database, but charges for it and limits results.

Some people are reluctant, worried that their DNA profiles will be hacked or used against their wishes, whether in the pursuit of a criminal or in the sale of data to health care companies. There are also concerns that DNA sharing will lead to the end of anonymity.

But law enforcement authorities and genetic sleuths who work with them argue that there is greater public good in helping to keep killers and rapists off the streets.

In the interest of public safety, dont you want to make it easy for people to be caught? said Colleen Fitzpatrick, a genetic genealogist who co-founded the DNA Doe Project, which identifies unknown bodies, and runs IdentiFinders, which helps find suspects in old crimes. Police really want to do their job. Theyre not after you. They just want to make you safe.

To illustrate those points, investigators tell the story of Angie Dodge.

Dodge, 18, was raped and murdered in 1996 in her Idaho Falls, Idaho, apartment. A year later, a man confessed to the crime, and although he later recanted and his DNA didnt match that of semen left on Dodges body, he was convicted of participating in the killing and sentenced to life in prison.

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Dodges mother grew convinced that the prisoner, Christopher Tapp, was not her daughters killer. She pressed authorities to reopen the case. In 2017, Tapp was freed in a deal with prosecutors in which his conviction of aiding and abetting the murder remained.

So did the question of who left their DNA at the crime scene.

Almost a year later, California authorities said theyd used genetic genealogy to catch the Golden State Killer.

The announcement generated a surge of interest in the technique, as genetic genealogists teamed up with private companies to sell their services to law enforcement. (Public crime labs are not equipped to do the kind of DNA analysis required, and police generally arent fluent in methods used to build family trees.) Parabon NanoLabs was the first, hiring Moore to run its genetic genealogy services. Idaho Falls police asked the company to try it.

Parabon submitted the Dodge suspects DNA profile into GEDmatch in May 2018, but the DNA was so degraded that, even with more than 1 million profiles to compare against, the connections were sparse. Moore decided that genetic genealogy wouldnt work and declined to take up the case.

But Dodges mother, Carol, begged Moore to keep trying. Moore relented and examined the connections more closely. With help from her team of genetic genealogists, she explored a series of leads that didnt pan out. They kept at it for months, eventually discovering a new branch of the suspects family tree and a potential suspect.

Police followed that man, collecting a cigarette butt he discarded and using it to obtain his DNA. It matched the crime scene profile, and in May 2019 Brian Leigh Dripps confessed, police said. A few weeks later, Tapp was exonerated. Dripps is awaiting trial.

Moore chronicled that search at a recent gathering of genetic researchers, investigators, prosecutors and lab technicians in Palm Springs, California. If she had been working on the Dodge case after GEDmatch limited access to its database, she told attendees of the International Symposium on Human Identification, this case would not have been able to be solved by genetic genealogy.

She said she understood why GEDmatchs owners made the decision, but the result was allowing some violent criminals to remain free for longer than they would have been with the full power of genetic genealogy. She pleaded with her audience to take DNA tests and upload their profiles into GEDmatch.

We dont want this very valuable tool to slip out of our hands, Moore said.

Curtis Rogers didnt ask for this.

Rogers, 81, works in Florida as a court-appointed guardian for the elderly. He founded GEDmatch as a free public service in 2010 after being inspired by his own experience connecting with people who shared his last name. He partnered with a computer programmer who wrote software that made it easy for people to find relatives through certain shared pieces of genetic material. The site became popular among professional and amateur genealogists, and as direct-to-consumer genetic testing services grew, GEDmatch enabled people to compare their DNA profiles in a single place.

Rogers knew little of law enforcements interest in his website until the Golden State Killer announcement. The news upset Rogers and some members. But he eventually accepted the sites role in solving violent crimes where other forensic techniques including searches for matches in criminal DNA databases had failed.

I am not totally comfortable with GEDmatch being used to catch violent criminals but I doubt it would be possible to prevent it, Rogers told NBC News last year. I feel it is important to make sure all our users are educated to the possible uses of GEDmatch so they can make up their own minds.

As law enforcement searches of his site surged, Rogers imposed a few restrictions. He allowed investigators to pursue leads on homicides and rapes, but not less serious crimes like assaults.

Then, late last year, police in Utah asked Rogers to use the site to investigate an attack on an elderly church organist, who was seriously hurt but survived. Rogers agreed, and police used GEDmatch to identify a 17-year-old suspect, who was arrested in April.

But that bending of Rogers own rules on how police could use GEDmatch triggered a backlash that led him to change the sites terms of service. On May 18, all GEDmatch members were removed from law enforcement searches and offered a chance to opt in if they wanted to be included.

Ethicists said the decision ensured that users would be properly informed about how their profiles would be used.

People using genetic genealogy databases for their own purposes never anticipated this kind of access to their genetic information or that information being used to identify people theyre related to, said Amy McGuire, director of the Center for Medical Ethics and Health Policy at the Baylor College of Medicine.

There is a genuine tension between wanting to protect consumers and be respectful of their wishes and recognizing that working with law enforcement provides a social benefit, she said.

A Baylor College of Medicine survey last year found 91 percent of respondents favored law enforcement using consumer DNA databases to solve violent crimes, and 46 percent for nonviolent crimes.

But with fewer links from GEDmatch to examine, investigators now have to spend more time seeking connections that could lead them to a killer. That means chasing down more leads, or asking innocent distant relatives to submit their DNA for genetic testing in hopes that their profile will help fill out the family tree. That kind of target testing raises its own set of privacy concerns.

You only need to look at the pace of press releases since the time of the Golden State Killer and see that there was virtually one every week, if not more, and the pace of those cases being solved has reduced itself, said Anne Marie Schubert, the district attorney in Sacramento County, California, where she oversaw the Golden State Killer investigation.

The limited GEDmatch access ultimately means higher costs for law enforcement who turn for help to Parabon, which dominates the private market for such work, or FamilyTreeDNA, one of the earliest direct-to-consumer genetic testing companies.

It also means that more cases might remain unsolved.

If I had a larger team, we would certainly try more cases, Moore said. But because agencies are paying Parabon, we dont want them to waste valuable resources or give false hopes.

Rogers says he has done the right thing for his members, and for the field he loves.

We are here for genealogists, not for law enforcement, he said. On the other hand, law enforcement is here to stay. I feel a big obligation to make sure its used properly. I dont want some half-cocked law enforcement person to do something that creates a story and ruins everything for everyone.

Rogers has sent emails to members urging them to allow law enforcement to search their profiles, linking to a video message from a relative of one of the Golden State Killers victims.

Many of these families have suffered for decades. They need your support, he wrote in an email to members. We hope you will encourage others who have been genealogically DNA tested to also add their information. We believe it is the caring thing to do.

So far, Rogers said, 181,000 members have opted in. Thats far from the critical mass of 1 million that some researchers say is needed to solve cold cases with regularity. It could be many months, and perhaps years, before GEDmatchs law enforcement-accessible database reaches that size.

Im sorry we had to do this. However, I feel very strongly that when we bit the bullet and did what we did, we set the whole future on a much stronger base, Rogers said of genealogy. Two or three years from now, this whole thing will be forgotten.

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Police were cracking cold cases with a DNA website. Then the fine print changed. - NBC News

Clinical exome sequencing has revolutionized genetic testing for children with inherited disorders, and Baylor College of Medicine researchers have led efforts to apply these DNA methods in the clinic. Nevertheless, in more than two-thirds of cases, the underlying genetic changes in children who undergo sequencing are unknown. Researchers everywhere are looking to new methods to analyze exome sequencing data to look for new associations between specific genes and those rare genetic diseases called Mendelian disorders. Investigators at theHuman Genome Sequencing Centerhave developed new approaches for large-scale analysis of Mendelian disorders, published today in theAmerican Journal of Human Genetics.

The investigators used an Apache Hadoop data lake, a data management platform, to aggregate the exome sequencing data from approximately 19,000 individuals from different sources. Using information from previously solved disease cases, they established methods to rapidly select candidates for Mendelian disease. They found 154 candidate disease-associating genes, which previously had no known association between mutation and rare genetic disease, according toAdam Hansen, lead author of the study and graduate student inmolecular and human geneticsat Baylor.

We found at least five people for each of these 154 genes that have very rare genetic mutations that we suspect might be causing disease, Hansen said. This shows the power of big data approaches toward accelerating the rate of discovery of associations between genes and rare diseases.

These computational methods solve the dual problems of large-scale data management and careful management of data access permission. saidDr. Richard Gibbs, study author and professor of molecular and human genetics and director of the Human Genome Sequencing Center at Baylor. They are perfect for outward display of data from the Baylor College of Medicine programs.

Exome sequencing currently only diagnoses 30 to 40% of patients, Hansen said. He hopes that diagnosis rate will increase with the discovery of new associations between mutations in certain genes and rare diseases.

The genetics community can now focus on genetic mutations in these genes when they see undiagnosed patients, Hansen said. Since our initial analysis, 19 of these genes have already been confirmed as disease-associating by independent researchers. The collective effort of the genetics community will advance our understanding of these genes and provide further evidence for their potential role in disease.

Other researchers at the Human Genome Sequencing Center who were involved in the study included Mullai Muragan, Donna Muzny, Fritz Sedlazeck, Aniko Sabo, Shalini Jhangiani, Kim Andrews, Michael Khayat, and Liwen Wang.

This work was supported in part by grants UM1 HG008898 from the National Human Genome Research Institute (NHBLI) to the Baylor College of Medicine Center for Common Disease Genetics; UM1 HG006542 from the NHGRI/National Heart, Lung, and Blood Institute (NHLBI) to the Baylor Hopkins Center for Mendelian Genomics; R01 NS058529 and R35 NS105078 (J.R.L.) from the National Institute of Neurological Disorders and Stroke (NINDS); and P50 DK096415 (N.K.) from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

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Connecting gene mutations, rare genetic diseases - Baylor College of Medicine News

NEW YORK, Oct. 21, 2019 /PRNewswire/ --

Predictive Genetic Testing & Consumer/Wellness Genomics Market Size, Share & Trends Analysis Report By Test Type (Population Screening, Susceptibility), By Application, By Setting Type, And Segment Forecasts, 2019 - 2025

Read the full report: https://www.reportlinker.com/p05807251/?utm_source=PRN

The global predictive genetic testing & consumer/wellness genomics market size is expected to reach USD 8.5 billion by 2025, registering a CAGR of 13.9% over the forecast period. Factors influencing the market progression include growing awareness about utilization of genetic tests that aid in prediction of gene susceptibility to disease development prior to symptoms. Moreover, rise in sales of these products owing to growing inclination of physicians is driving the market.

Introduction of novel platforms in next-generation sequencing technology aids in enhancing the accuracy of predictive genetic and consumer genomics kits. Market participants are engaged in implementing novel protocols to launch products that require minimal technical assistance and provide optimal customer satisfaction.

Pharmaceutical firms are engaged in several agreement models with genomic vendors for the release of novel therapeutics based on patient's phenotypic and genotypic information. For instance, in July 2018, GlaxoSmithKline plc purchased 23andMe's customer data to develop a new drug, thus promoting patient-centered healthcare.

Further key findings from the study suggest: High adoption rate of these products in clinical practice for detection of disease susceptibility resulted in the largest share of this segment in 2018 Growing awareness related to direct to consumer (DTC) genetic tests and entry of new players is attributive to the fastest growth of the consumer genomics segment Genetic susceptibility tests are of great interest in gynecology and endocrinology-related research and diagnosis, thus allowing it to capture the maximum revenue share. These tests enable the identification of susceptible genes or mutations in adenomyosis, endometriosis, and postmenopausal osteoporosis Application of predictive genetic and consumer genomics is highest in the detection of breast and ovarian cancer as these tests hold the potential to identify BRCA mutations in patients Advent of predictive tests for identification of MLH1, MSH2 genes for colorectal cancer diagnosis is expected to fuel market growth in the coming years Colorectal screening initiatives such as mass screening and population-based screening are expected to boost segment growth North America dominated the market with the largest revenue share in 2018 owing to the presence of major players and high adoption rate Asia Pacific is expected to witness substantial growth in the coming years owing to increasing adoption of these products in developing economies Manufacturers contributing significantly to market growth include Pathway Genomics; ARUP Laboratories; BGI; Illumina, Inc.; 23andMe, Inc.; Color Genomics Inc.; and Myriad Genetics, Inc. Established as well as emerging companies are involved in adopting strategic moves for the launch of novel products.

Read the full report: https://www.reportlinker.com/p05807251/?utm_source=PRN

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

__________________________ Contact Clare: clare@reportlinker.com US: (339)-368-6001 Intl: +1 339-368-6001

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The global predictive genetic testing & consumer/wellness genomics market size is expected to reach USD 8.5 billion by 2025, registering a CAGR of...

Louisiana-based Ochsner Health System is partnering with Color to launch a population health pilot program, tyinggenetic information into preventive care.

Calling it the first "fully-digital population health program," Ochsner will work with the health technology company to incorporateclinical genomics into primarycare with a focuson impacting patients' health further downstream.

Developed by Ochsners innovation lab, innovationOchsner (iO), the health systems program willidentify patients who are at higher risk for certain hereditary cancers and heart disease so these diseases can be detected early or prevented.

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This marks another big partnership for Color this year. The company inked a similar collaboration with Chicago-based NorthShore University HealthSystem, called DNA10K, that will provide more than10,000 NorthShore patients access to Colors clinical-grade genetic testing and whole genome sequencing.Atthe time, it was touted as the largest primary care genomics program in the U.S.

RELATED:Mount Sinai to launch $100M center dedicated to AI, precision medicine

Physician practices are beginning to incorporate genomics into primary care as well.Murfreesboro Medical Clinic and SurgiCenter in Tennessee are working with technology company2bPrecise, a subsidiary of health IT company Allscripts, to integrate pharmacogenomic testresults at the point of care.

In August, Color was awarded a $4.6 million grant by the National Institutes of Health to serve as the nationwide genetic counseling service for its All of Us Research Program.

With this pilot program, Ochsner is focused on screening patients with genetic mutations that put them at increased risk for three conditionshereditary breast and ovarian cancer syndrome due to genetic mutations in the BRCA1 and BRCA2 genes; Lynch syndrome,associated with increased risk in colorectal, endometrial, ovarian and other cancers; and familial hypercholesterolemia (FH), which increases the risk for heart disease or stroke.

The Centers for Disease Control and Prevention reports thatnearly 2 million people in the U.S. are at increased risk for adverse health outcomes because they have genetic mutations with one of thosethree conditions.

Genetic screening can make a meaningful difference to patients through early detection and screening. Most consumers have access to home genetic screening tests but may not have the tools, resources, and collaboration needed to take action should they receive questionable results, said Richard Milani, M.D., chief clinical transformation officer for the Ochsner Health System and medical director for iO.

RELATED:How a Nashville-area clinic teamed up with Allscripts on precision medicine

Ochsner provides patient care across40 owned, managed and affiliated hospitals and specialty hospitals and more than 100 health centers and urgent care centers.The partnership will combine Colors capabilities inmedical-grade genetics, clinical services and patient engagement and the health system's experience withpersonalized medicineand integrating it into routine patient care, the organizations said in a press release.

As part of the program, selected patients will be enrolled into the program digitally and will receive access to genetic testing and counseling.Genetic testing results will bestored in the patients Epic electronic health record so patients and providers have access to the genetic information.

RELATED:UCLA Health deploys Microsoft Azure to accelerate medical research, precision medicine at the point of care

Ochsner also has developed clinical decision support tools and a robust provider education program for both primary care and specialty providers to integrate into clinical practice.

New technology tools like clinical genomics will enableOchsner physicians to better understand individualized risk among its patient population and create action plans that can detect or prevent disease, according to the health system.

We know there are many factors that influence health, and genetic insights provide an additional data point to allow us to develop and deliver a more personalized approach in partnership with our patients," Milani said.

"Integrating this information into the patients electronic health record so doctors can review the results and discuss proactive treatment recommendations is yet another example of how we are reengineering care, informing smarter decisions by healthcare providers and empowering patients to become more involved in their health," he said.

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Ochsner Health System teaming up with Color on population health pilot - FierceHealthcare

Consumer genetic tests could be giving false reassurance to those at heightened risk of cancers, according to findings presented at an international conference this week.

The study, by clinical genetic testing company Invitae, revealed that tests for breast and bowel cancer risk by direct-to-consumer companies such as 23andMe give negative results to the vast majority of those carrying DNA mutations in the genes under investigation.

These tests should not be taken at face value at all, whether they are positive or negative, said Edward Esplin from Invitae ahead of the annual meeting of the American Society of Human Genetics in Houston, Texas.

The data really underscores that there needs to be increased awareness that results from this type of screening may not be wrong but theyre woefully incomplete.

The research also showed that those from Asian and African-American backgrounds were more likely to carry mutations that were not designed to be detected by the consumer tests.

The research focused on DNA-based tests relating to breast, ovarian and bowel cancer that were recently approved by the US Food and Drug Administration.

The tests operate by a subject sending a DNA swab in the post for analysis and then receiving results with information about how their genetics could influence their health.

In the case of breast and ovarian cancer, the FDA has approved a screening test for three specific mutations on the BRCA1 and BRCA2 genes, which are most common in people of Ashkenazi Jewish heritage. However, these mutations are rare in people from other backgrounds.

Similarly, for bowel cancer, 23andMe offers FDA-authorised tests for two mutations, which are most common among individuals of northern European ancestry. The company explains the limitations of these tests to consumers and on its website.

Esplin said that despite this, consumers could be wrongly reassured by a negative result.

The study analysed the DNA of 270,806 patients who had been referred by healthcare providers for testing of the MUTYH gene, and 119,328 who had been referred for BRCA1/2 genetic testing.

It showed that for both tests, the majority of those carrying mutations would not be spotted, which Invitae describes as a clinical false-negative result.

For MUYTH, 40% of individuals with mutations in both copies of their MUTYH genes consistent with an almost 100% lifetime risk of bowel cancer had different mutations to those screened for in the FDA-approved test. This figure rose to 100% for those from Asian backgrounds and 75% for African-Americans.

For BRCA genes, 94% of non-Ashkenazi Jewish individuals and 19% of those of Ashkenazi heritage had a mutation that would be missed. Again, the figures were highest for those of Asian (98%) and African-American (99%) ancestry. Its performing a disproportionate disservice to individuals of these underrepresented groups, Esplin said.

A clinical false-negative result can be incorrectly reassuring, excluding a patient from receiving the preventive care they need based on their risk, he added. It could be the difference between preventing cancer and developing cancer.

In response to the findings, 23andMe said in a statement: The claims made by a competitor that we are returning clinical false negatives is incorrect and a false characterisation of 23andMes test. Our test is extremely accurate. As part of the FDA authorisation process weve demonstrated over 99% accuracy for the variants we test for in our health product.

The company said it makes clear to customers that it tests only for certain genetic variants and that customers should not forgo any recommended testing based on 23andMe results. 23andMe is not a diagnostic test, the company said. If an individual has a family history of cancer or other indications for clinical testing we always recommend consulting a healthcare provider first.

Prof Anneke Lucassen, a clinical geneticist at the University of Southampton, said that, in her experience, non-specialists would be likely to wrongly interpret negative results as an all-clear.

I do think the false-negative rate is an issue, not necessarily through the companies fault but through low general awareness, she said. Most people who come to clinic ask: Have I got the gene for breast cancer? and imagine its a single test, not that the test involves looking through around 20,000 letters of the genetic code to see if any one of them might be different.

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Genetic testing kits 'may wrongly reassure those at risk of cancer' - The Guardian

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive." Myriad Genetics hide caption

Myriad Genetics is among a handful of companies that make a genetic test to help doctors choose psychiatric medicines for patients. Evidence that the tests are effective has been called "inconclusive."

As a teenager, Katie Gruman was prescribed one mental health drug after another. None seemed to help her manage symptoms of anxiety and bipolar disorder, so she self-medicated with alcohol and illicit drugs.

It would take five years, and trying more than 15 different medications, before she found meds that actually helped.

Now 28 and in recovery, Gruman has been on the same drugs for years. But when a clinician recommended a genetic test to see which drugs work best for her, she took it.

Reading the test results "was definitely vindicating," she says. Medications that hadn't worked for her as a teenager were the same ones the results marked as bad fits.

She says she wishes she had taken the test as a teenager. "I could have avoided a lot of disaster in my life," she says.

Psychiatric medications are known to be hard to match to symptoms, and many patients like Gruman live through years of trial and error with their doctors.

Companies that make genetic tests like the one Gruman used say they can save patients and doctors from prolonged searching for the right medication and save insurance companies from paying for ineffective drugs. But many researchers say the tests don't have enough evidence backing them up. The Food and Drug Administration has warned that the tests could potentially steer patients towards the wrong medications. Nonetheless, UnitedHealthcare, the nation's largest insurer, began covering them October 1 for its 27 million individual and group plans.

Test makers hailed the announcement of United's coverage, the first from an insurance company to apply to all of its commercial plans across the country.

"We expect this to be a tipping point," says Shawn Patrick O'Brien, CEO of Genomind, a company that makes one of the tests. Other insurers will cover the tests "because they don't want to be uncompetitive in the marketplace," he predicts.

If the prediction is correct, it would likely fuel a market that has seen its largest test maker, Myriad Genetics, sell about 375,000 of its psychiatric medicine tests in the 2019 fiscal year, according to Jack Meehan, an industry analyst for Barclays. Myriad reported that it sold $113 million worth of the tests.

In addition to UnitedHealthcare's coverage, Myriad Genetics' test is covered by Medicare, a regional Blue Cross Blue Shield affiliate, and the insurance network for the grocery chain Kroger, a spokesperson says.

Genomind has discussed coverage with insurers including Anthem and Blue Cross Blue Shield, O'Brien says.

Debates over efficacy

As the field of genetic testing to help diagnose and treat disease grows, medicine has embraced certain tests, such as that for the BRCA gene linked to breast cancer. But many researchers say there is not enough evidence tying genetic variants to better outcomes for most psychiatric medications.

James Potash, the head of psychiatry at Johns Hopkins Medicine and an expert on psychiatric genetics, says of all the tests claiming to improve depression treatment, GeneSight's has the most proof. That isn't saying much, though.

"I wouldn't say there's no evidence that it works," he says. "It's just the evidence at this point is still weak."

The idea behind the tests is that in some cases, people can have different reactions to the same drug, even at the same dose, because they have different gene variants. Which variant a person has can affect how quickly or slowly a medicine moves through their body.

This link between genes and drug metabolism has been known for decades, says Francis McMahon, who leads genetic research into mood and anxiety disorders at the National Institutes for Mental Health.

Usually, the longer it takes your body to process a drug, the easier it is for that medication to have an effect. But in psychiatry, McMahon says, how fast someone processes a drug, or metabolizes it, and how well they respond to the drug "are sometimes not strongly related."

This skepticism is shared by some insurance companies. "Anthem considers these tests investigational and not medically necessary," says a spokesman for the carrier, which covers 41 million people. The Blue Cross Blue Shield Federal Employee Program, which covers about two-thirds of government workers and their families, said "there is not enough evidence at this time to determine the effect of genetic testing on health outcomes," according to a spokeswoman.

Test makers are also facing FDA objections that they haven't proven some of the claims underpinning genetic tests for medications, including that antidepressants work better with some gene variants.

"Changing drug treatment based on the results from such a genetic test could lead to inappropriate treatment decisions and potentially serious health consequences for the patient," the agency warned in late 2018. It told companies to stop naming specific drugs, in marketing materials or test results, for which its tests "claim to predict a patient's response" without "scientific or clinical evidence to support this use."

Most test makers complied. One, Inova Genomics Laboratory, stopped selling a range of tests, including its test for mental health disorders, after the FDA followed up with a warning letter in April.

Several mental health advocacy groups, including the National Alliance on Mental Illness, have sided with test makers in their dispute with the FDA. Keeping the names and types of medication off of genetic test reports, as the FDA has required, will "impede the ability of psychiatrists and other front-line health care professionals to personalize medication decisions" for patients with depression, the groups wrote the FDA in September.

Some have argued that genetic tests like these shouldn't be regulated by the FDA at all. Tests conducted in a lab are a medical service, not a medical device that's shipped like a product, says Vicky Pratt, president of the Association for Molecular Pathology. As a medical service, she says, clinical laboratories are already regulated by the Centers for Medicare and Medicaid Services.

"It would be redundant to have dual regulation by both the FDA and CMS," says Pratt.

Cost-benefit analysis

Research into the tests' efficacy is ongoing and continues to be debated.

Myriad hoped to bolster evidence for its test, GeneSight, in a study it funded that was published this year in the Journal of Psychiatric Research, but the results were mixed.

In the study, doctors used genetic tests to help prescribe medications for one group of patients with depression, while another group of patients received usual care. There was overall no difference between the groups in the study's primary measure of symptom improvement, though some patients showed improved response and remission rates.

Responding to criticisms of its clinical trial results, Myriad Genetics spokesman Ron Rogers says the trial population whose average participant had tried more than three unsuccessful medications for depression was uniquely difficult to treat. He says he expects to see stronger outcomes in a forthcoming review of the trial data.

In a statement on the use of genetic testing in psychiatry, the International Society of Psychiatric Genetics, calls the existing evidence "inconclusive," and notes that if 12 patients take such a test for antidepressants, just one will benefit from it.

A low rate of success means insurers will have to pay for a lot of tests for one useful result, says Barclays analyst Meehan. Meehan pointed to a letter about the recent GeneSight study that was published in the same journal, which found that 20 patients would need to take the test for one to recover as a result. At $2,000 for a GeneSight test, the authors wrote, that means patients and insurers would have to cover $40,000 worth of tests. (While competitor Genomind does not share pricing information, a spokeswoman confirmed that it has an active contract with the Department of Veterans to supply tests for $1,886.)

Still some clinicians value the tests. Skeptics often misunderstand how the tests should be used, argues Daniel Mueller, a professor at the University of Toronto who researches how genes and drugs interact. (Mueller is involved in research comparing Myriad's GeneSight to another test developed by a University of Toronto-affiliated hospital.) Most of the time, he says, doctors who order the test already plan to prescribe medication. The test is just another tool to help them decide which one to prescribe.

"It's not an alternative intervention," Mueller says. "It's additional information." He orders the test for most patients who do not respond to at least one antidepressant.

"If you think about the cost of depression and weeks of suffering that you can potentially avoid for some patients," Mueller says, he thinks anyone who can afford a test should take it. (Myriad says 95% of patients pay less than $330 for their test, the cost remaining after insurance and possible financial assistance; Genomind says most privately insured customers pay no more than $325.)

A lack of watertight evidence for the tests should not stop doctors from using it to inform their choice of medication, says Reyna Taylor, who leads public policy for the National Council for Behavioral Health, one of the advocacy groups that defended the tests in a letter to the FDA. "You use the science that you currently have," she says.

"Whether our providers choose to use [a genetic test] or not, we want them to have that choice," she adds.

Disagreement among experts hasn't dissuaded UnitedHealthcare from paying for the tests.

In a statement, UnitedHealthcare spokeswoman Tracey Lempner says they "frequently review our coverage policies to ensure they reflect the most current published evidence-based medicine and specialty society recommendations."

Graison Dangor is a journalist in Brooklyn.

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Genetic Tests For Psychiatric Drugs Now Covered By Some Insurers : Shots - Health News - NPR

According to study findings presented at the American Society of Human Genetics (ASHG) 2019 Annual Meeting, health reports from direct-to-consumer (DTC) genetic tests that adopt a limited variant screening approach are producing clinically false-negative results.The advances in next-generation sequencing (NGS) technologies that have occurred since the "Genomic Era" mean that DTC genetic testing is now increasingly affordable and more of us are opting to do it. These genetic tests are marketed directly to consumers via an array of advertising platforms, print, television, or the internet; and the tests can be purchased online or in shopping stores. A customer purchases the test, sends the company a DNA sample and receives their results directly there is no intervention from a healthcare provider. DTC companies offer genetic tests for an array of purposes, be it to make predictions about an individual's health, to provide information on common genetic traits, or to offer insight on an individual's ancestry.The popularity of DTC genetic testing has grown to the extent that The U.S. Food and Drug Administration (FDA) has authorized marketing of health reports from DTC genetic screens for genetic risk of breast, colorectal and ovarian cancer.DTC "It's like reading a book"Typically, the tests search for variants in a consumer's genome, such as single nucleotide polymorphisms (SNPs), that can increase an individual's susceptibility to disease. However, concern has arisen as to whether the variant screening provided by DTC companies is thorough enough to yield true clinical value.While limited variant screens may be informative for the variants they detect, they are not designed to detect every variant that has been linked to the disease in question, explained Edward Esplin, MD, of Invitae, who presented the research. "Thus, these health reports may provide a false sense of reassurance and should not be used for making any health decisions without confirmation testing."Esplin told Technology Networks, "The limited health screens available direct-to-consumer state they should not be used for healthcare decision-making, consistent with FDA recommendations. Clinical tests are designed expressly for healthcare decision-making. Rather than looking at a few variants in a few genes, clinical tests provide comprehensive information on the relevant genes and variants proven to confer increased risk of disease. Its like proofreading a book. If each gene is a chapter, a clinical test proofreads the entire chapter on that gene, whereas a DTC test may look for errors in only a few letters."

In the presented study, Esplin and colleagues wanted to quantify the clinical false negatives that result from a limited screening strategy. They therefore focused on two FDA-authorized limited variant screening tests, one for MUTYH gene, which detects to variants linked with colorectal cancer, and one for BRCA1 and BRCA2, which identifies three variants associated with breast cancer.I ask Esplin how we define "limited screening". He tells me, "For tests using limited screening strategies only a small portion of the clinically relevant genetic variants are reported. For example, there are thousands of variants in BRCA1 and BRCA2 that have been shown to increase risk of breast and ovarian cancer in women. Screening tests that provide information on just 2 or 3 of those variants, such as those limited to the 3 BRCA1/2 variants most common in individuals of Ashkenazi Jewish descent, are highly limited. Again, the book analogy is helpful."The scientists studied 270, 806 patients who had been referred by healthcare professionals for MUTYH genetic testing, and 119, 328 who had been referred for BRCA1/2 genetic testing.

For both tests, they identified that if only the limited variant screenings had been performed, then most patients would have received a clinical false-negative result.

Specifically, for MUTYH genetic testing, 40% of individuals with mutations in both of their MUTYH genes (which is consistent with 100% lifetime risk of developing colorectal cancer) would have been missed. 22% of carriers of one MUTYH mutation, which is consistent with a 2-fold increased risk of colorectal cancer, also would have been missed.

When analyzing BRCA1/2 the variants tested were significantly more common amongst Ashkenazi Jewish study participants. However, even among these individuals, 19% would have received a false-negative result, and 94% of non-Ashkenazi Jewish individuals carried a BRCA1/2 mutation that would have been completely missed.

Esplin tells me, "Our study did not evaluate the reasons behind the variation in these populations that we observed. This is an important area for further study. That said, it stands to reason that if a test is looking at just 2 or 3 variants associated with a specific population, such those of Ashkenzai Jewish descent, populations likely to have substantially less of that heritage will exhibit substantially fewer of those variants."

He continues, "A clinical false-negative result can be incorrectly reassuring, excluding a patient from receiving the preventive care they need based on their risk. It could be the difference between preventing cancer and developing cancer."Analyzing differences among populationsEsplin's team analyzed the rate of false-negatives among patients of different ethnic backgrounds. Their results show that for MUTYH, 100% of Asians, 75% of African-Americans, 46% of Hispanics and 33% of Caucasians would have received a clinical false-negative. In parallel, for BRCA1/2, 98% of Asians, 99% of African-Americans, 94% of Hispanics, and 94% of Caucasians would have also received a clinical false-negative.

Collectively, these findings emphasize the medical worth of conducting in-depth, comprehensive clinical genetic testing. "The results from this type of DTC genetic screening may not be wrong but they are woefully incomplete, particularly when viewed against the health question a patient may be asking - am I at risk for cancer. We hope our research underscores the need for consumers to understand the deep limitations of these health reports and seek out appropriate clinical genetic testing when trying to understand their risk of health conditions like cancer," says Esplin.I ask Esplin what his advice would be to individuals considering a DTC genetic test. He tells me: "Think about the question you hope to answer by taking the test. If you are interested in whether you are at risk for a disease, you need a comprehensive, medical grade genetic test that can answer that question and be used by you and your physician to take action on the result. So if you want to know if youre at risk for cancer, you need a comprehensive clinical genetic test that evaluates all of the gene changes that can increase your risk. It is easier than ever before to get the tests genetic experts trust thanks to offerings like ours that link patients to clinicians via telemedicine. If youre interested in getting a health answer, get a medical test."

Reference: ED Esplin et al. (2019 Oct 17). Abstract: Limitations of direct-to-consumer genetic screening for hereditary breast, ovarian, and colorectal cancer risk. Presented at the American Society of Human Genetics 2019 Annual Meeting. Houston, Texas.Edward Esplin, M.D., was speaking with Molly Campbell, Science Writer, Technology Networks

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Limitations of Health Reports From Direct-to-Consumer Genetic Tests Are Identified - Technology Networks

NEW YORK - Singer Beyonce Knowles poses with her father and manager Matthew Knowles June 23, 2005 ... [+] (Photo by Frank Micelotta/Getty Images)

Beyonces father, Matthew Knowles, recently went public with the announcement that he has breast cancer and carries a mutation in a gene called BRCA2.He joinsAngelina Jolieas a celebrity who has shared his private medical and genetic history in order to raise awareness and potentially help millions of patients and health care providers.

Knowless story has several unusual twists. First,he is a man with breast cancer. Many people still dont realize that men can develop the disease,which affects approximately 1 in every 1,000 men every year. Because men, and their health care providers, are not as aware of the prevalence of the disease in men, male breast cancer is often diagnosed at later stages and is associated with aworse prognosis.Any male who has bloody nipple discharge, changes in the breast or nipple, or a lump in his breast, armpit, or chest wall, should bring these findings to the attention of his health care provider, and breast cancer should be considered in the differential diagnosis. Too often, both men and their health care providers ignore the signs that would immediately be explored and treated in a woman presenting with the same findings.

The second twist: Knowles had genetic testing and was found to carry a mutation in thegene called BRCA2. We all have two BRCA2 genes, but people born with a mutation in one of those genes are atincreased risk for several cancers, including breast, ovarian, pancreatic, and prostate cancer.Male breast cancer is seen at higher rates in men who carry a BRCA2 mutation, with a lifetime risk of seven percent as opposed to less than one percent in the general population. BRCA2 carriers also have a higher risk of developing multiple breast cancers.Consequently, Knowles, who currently has breast cancer in only one breast, plans to have both breasts removed to reduce his risk of developing a new breast cancer in the future.

Knowles also acknowledged that his children each have a 50% risk to carry the same BRCA2 mutation. The same is true for his siblings. When someone is found to carry a BRCA2 mutation, their family membersshould each be offered genetic counseling and testing by a trained professional.

The third twist:Knowles is of African American ancestry. Many patients and providers wrongly believe that BRCA mutations are only found in white Jewish women. While it is true that there are three BRCA mutations that are common in men and women of Jewish ancestry, there are thousands of other mutations in the BRCA genes that can be found in people ofallethnic backgrounds. We must begin to offer genetic counseling and testing consistently toallwomen and menwith significant personal or family histories of cancer.

So,who should be offered genetic counseling and testing? ALL men with breast cancer, period. Since Matthew Knowless story broke, Ive read multiple false accounts stating that men with breast cancer should be offered genetic testing onlyif they have a strong family history of cancer or are of Jewish ancestry. Wrong. ALL men with breast cancer are strong candidates for genetic counseling and testing. And importantly, most BRCA and other cancer gene mutations would be missed by the popular at-home direct-to-consumer genetic testing kits. If you need genetic testing for medical reasons,speak to a certified genetic counselor who can help you order a medical-grade test.

Angelina Jolie, Rome (Italy), October 7th, 2019 (photo by Marilla Sicilia/Archivio Marilla ... [+] Sicilia/Mondadori Portfolio via Getty Images)

When Angelina Jolie came out with her story in 2013, referrals to my clinic increased by 40% overnight and awareness of genetic testing and BRCA mutations changed forever. Matthew Knowles has just done the same for male breast cancer, BRCA2, and genetic testing of non-white women and men. His courageous decision to share something so personal will save lives.

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What Beyonces Dad And Angelina Jolie Have In Common - Forbes

Matthew Knowles, the father of the artists Beyonc and Solange, recently announced that he had been told that he has a breast cancer caused by a BRCA2 gene mutation and that his children have a 50 percent chance of inheriting it.

In 2007, my mother was in a similar position. She learned after receiving a breast cancer diagnosis at age 42 for a second time her first bout with cancer came when she was 28 that she carried a BRCA2 mutation. It meant that as her daughter, I had even odds of having inherited it from her.

BRCA1 and -2 gene mutations can elevate a carriers lifetime risk of developing breast cancer up to 72 percent, compared to a 12 percent lifetime risk among the general population. They can also elevate a carriers lifetime risk of ovarian, pancreatic or prostate cancers along with melanoma. Although he had a family history of breast cancer, Mr. Knowles had never been referred for genetic counseling or testing to evaluate his risk of having a BRCA mutation.

His story is all too common among African-Americans. Black women are substantially less likely to undergo genetic counseling and testing for BRCA mutations as compared to white women, even though research suggests that the rate of BRCA mutations is higher among black women than it is for white.

Researchers at the Moffitt Cancer Center in Florida found that among young breast cancer patients who met the national guidelines for receiving genetic counseling, only 37 percent of black women had discussed it with a provider compared to 86 percent of white women. Just 36 percent of black women received testing for BRCA compared to 65 percent of white women. A study showed that only 58 percent of black women who were eligible for genetic testing under the national guidelines received testing as a part of their routine care.

Although there is no clear answer as to why the disparity exists, one reason may be the lack of awareness among doctors that black people are at risk for carrying BRCA mutations. Ohio State University researchers interviewed black and white women at higher risk for breast cancer. One study participant, a black woman in her 20s, reported that when she had expressed interest in genetic counseling, her gynecologist told her that only Jewish women tested positive for BRCA mutations.

Although its true that Ashkenazi Jews have an especially high risk of carrying a mutation (the rate is estimated to be one in 40), people of all racial backgrounds run a risk. The same study also found that black women are less likely have seen a specialist who could provide information on genetic counseling and testing: only 15 percent of black women in the study had met with a genetics, cancer or breast specialist as against 70 percent of white participants.

Although there have not been any published studies that I know of on genetic counseling and testing rates among black men, a 2016 report found that among men diagnosed with prostate cancer, black men may be more likely to have BRCA1 and BRCA2 mutations than white men.

The discovery of the BRCA1 and -2 mutations in 1994 and 1995 was a huge breakthrough that allowed for us to get better at treating and preventing cancer. That makes the low levels of BRCA testing among African-Americans especially troubling, because people who know they are carriers can possibly reduce the risk of getting cancer by getting a preventive mastectomy or oophorectomy.

I know this myself. When I was 29, I was tested and discovered that my mother had passed on her BRCA2 mutation to me. I decided to have a preventive double mastectomy, which shrank my risk of developing breast cancer from 80 percent to less than 5 percent.

Even if a person decides not to do what I did, enhanced surveillance, like an MRI and mammogram every six months, can help detect cancer at an early stage when its more treatable. If black women and men arent receiving genetic testing, theyre potentially missing out on the chance to catch breast cancer early on. This is crucial because black women are more likely than white women get diagnoses of breast cancer at a later stage, which has lower survival rates. Similarly, black men are also more likely than white men to be told they have prostate cancer when it has reached a more advanced stage.

As the use of personalized medicine and genomics in treating cancer increases, knowing whether a patient has a BRCA mutation allows for individualized treatment. It also lets the patient to take steps to prevent a recurrence or a second cancer elsewhere. For example, once my mother learned that she carried a BRCA2 mutation, which is also associated with a higher risk of ovarian cancer, she underwent an oophorectomy. She has been cancer-free for 12 years.

Knowing that a person carries a BRCA mutation also provides an opportunity to test and identify relatives who may carry a harmful mutation potentially preventing and detecting cancer early in a whole family.

We need a large-scale effort to improve genetic counseling and increase testing rates in the black community. The first step is to make medical providers more aware that black women and men are at risk for carrying BRCA mutations. Numerous studies have shown that the biggest indicator of whether someone undergoes genetic testing is a recommendation from a doctor.

An educational effort would also help to dispel myths that genetic testing is financially prohibitive. Most insurance will cover the costs of testing for people who meet the national guidelines. When I underwent testing in 2014, I paid only $80 after insurance kicked in.

Cancer awareness organizations also need to do a better job of reaching out to the black community about BRCA mutations and the benefits of genetic counseling and testing. Research shows that black women are highly interested in undergoing testing for BRCA mutations once they are presented with information regarding its benefits.

Only one percent of genetic counselors in the United States are black. We need more black health care professionals who have undergone specialized training to provide risk assessment and interpret genetic testing results. This could also help to increase the number of black women who receive genetic testing.

I cannot imagine what it must have been like for my mother to have faced her first cancer diagnosis when she was not even 30 and had a young daughter. What I do know is that I was able to substantially lower my chance of having to battle the same disease because I knew about her BRCA2 mutation. More black families should be empowered with the same information.

Erika Stallings (@quidditch424) is a lawyer.

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Beyoncs Dad Has a Mutation More African-Americans Should Be Tested For - The New York Times

Ancestry, the genealogy-focused genetics testing company, on Tuesday announced two new products that will provide consumers with health information based on DNA test resultsa move that places the company "in direct competition with 23andMe," according to STAT News.

What providers need to know about genetic testing and other new clinical innovations

The two AncestryHealth products AncestryHealth Core and AncestryHealth Pluswill look at 17 genes, including:

The products will also test for traits like lactose intolerance and caffeine metabolism. In addition, the tests will include clinical reports that consumers can give to their physicians.

However, the two products provide significantly different services. AncestryHealth Core will provide a one-time report with data based on consumer's DNA microarray. The product will cost consumers $49.

Meanwhile, AncestryHealth Plus will provide a more detailed report to consumers using next-generation DNA sequencing technology. While the AncestryHealth Plus product will initially focus on the 17 genes that the AncestryHealth Core product focuses on, it will technically sequence a consumer's "exome," or" all of the known genes that code for proteins in the body," according to STAT News. However, Ancestry will share only a limited portion of the resulting data with consumers. Consumers interested in the product will pay a one-time fee of $199, plus a $49 subscription fee every six months to receive quarterly reports with updates.

For the new products, Ancestry is teaming up with PWNHealth, a national network of physicians located in New York. For both products, consumers will order a DNA test from the company and complete a survey of their medical history, which is then reviewed by a PWNHealth physician for DNA test approval. The test results, when ready, are then reviewed by PWNHealth providers to ensure that consumers get the right educational materials along with the findingsfor instance, a consumer whose DNA test has potentially worrisome results would also receive an educational video about the condition.

Consumers will also receive video material on DNA testing before getting their results, and, after receiving their results, they will have access to both online resources and, if needed, genetic counselors also from PWNHealth.

According to Business Insider, 23andMe sells many of the same tests Ancestry plans to offer, including reports on carrier status for sickle cell anemia, cystic fibrosis, and Tay-Sachs Diseaseand more than 40 other conditionsfor about $200. 23andMe's tests can also tell consumers if they have an increased risk of Alzheimer's disease or Parkinson's disease, which Ancestry elected not to include.

However, since AncestryHealth will require physicians, rather than consumers, to order the DNA tests, AncestryHealth will operate under CMS' rules for physician-ordered diagnostic testing. In comparison, 23andMe applied for and received FDA approval so that it could make its DNA tests available directly to consumers without a prescription.

Margo Georgiadis, Ancestry's CEO, said the company elected to have doctors order the DNA tests "so that the consumer not only can find out a risk factor, but they can seamlessly take a lab report with clinically recommended guidelines into the doctor's office so that there's a clear next path for action."

Some experts expressed concern over how many genetic diseases the tests will provide information on, and said it's unclear how the patient counseling component of the program will work.

Eric Topol, director and founder of the Scripps Research Translational Institute, voiced concerns about the AncestryHealth Plus product in particular, noting that the American College of Medical Genetics advises providers to share information about harmful mutations in 58 genes with patients who have had their exomes sequenced. The AncestryHealth Plus product is "minimal," he said, adding that while it's "a step in the right direction," it's "not in keeping with consensus and practice in the medical community."

However, Catherine Ball, Ancestry's chief science officer, said the company decided to have its tests focus on only highly actionable diseases because it only wanted to include tests that can "improve outcomes for our customers and for their families."

Separately, David Agus, a professor at the University of Southern California, said, "What people don't get is that genetics are a tiny piece of the puzzle." He noted a study Ancestry and Google published in Genetics that found genes account for less than 10% in differences in people's lifespans.

Laura Hercher, director of research in human genetics at Sarah Lawrence College, said just 2% of patients who don't have a family history of disease would be expected to learn something medically useful from a DNA test. "Some people will get medically useful information from this," she said. But "[f]or most, the idea that DNA testing will help your doctor guide your health decisions is an overstatement" and "premature at best."

Robert Cook-Deegan, a professor at the University of Arizona who studies genome ethics and law, worried that many consumers may not understand their own DNA tests. "A lot of whether this is a good thing or a bad thing depends on the quality of their testing," he said. "It depends on the degree to which those physicians are really involved and the degree to which the genetic counseling is truly incorporated into the process."

Others expressed concerns of whether consumers will know they should be getting a different DNA test than the one they chose. For example, if patients wanted a BRCA1 or BRCA2 test because they had a family history of breast cancer, the AncestryHealth Core test will only tell them if their gene has a common "misspelling," meaning that several specific, cancer-causing mutations could be overlooked, STAT News reports. And while the AncestryHealth Plus test would be more likely spot such an issue if it's present, patients could be better off receiving a DNA test, such as those offered by Myriad Genetics, because those might be covered by insurance.

Robert Green, director of the Genomes2People research program at Brigham and Women's Hospital, said he's concerned patients may wrongly think they're at low risk of a disease because of an incomplete DNA test. "The risk, as with other the consumer genomics, is that patients will think this is somehow a comprehensive and encyclopedic investigation of your entire genomic health," he said. However, he added that "[d]iscovering some people who are carrying significant and actionable mutations is better than finding none of them" (Herper, STAT News, 10/15; Ramsey, Business Insider, 10/15; Brown, Bloomberg, 10/15).

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Ancestry will offer health DNA tests, setting its sights on 23andMe - The Daily Briefing

Breast cancer survivor: I focused on God's promise, not the problem

Sherry Connelly has kept a positive outlook on as she takes her journey through the healing process from breast cancer.

Taylorsville native Sherry Connelly found out she had breast cancer on February 14, 2018.

Happy Valentines day to me, right? I was distraught. I was angry, Connelly admitted. She made sure to get a mammogram every year, but somehow it still slipped through the cracks.

I was like, How in the world did we miss this? She said she first discovered a lump in her breast, and had it checked by her primary care physician. She (Connellys doctor) said it was probably just a cyst, but to be on the safe side she had me go get an ultrasound and tests, she said.

The next doctor told Connelly she also needed a biopsy, which confirmed that she had breast cancer. It was hard, but I just had to look at the bright side; God had something for me to do, she said.

As she went through many chemotherapy and radiation treatments, she kept her mind on God. I just prayed and asked God to give me something to do so I wouldnt just focus on the problem. I wanted to focus on His promise, and not on the problem, she said.

During this time, Connelly played a part in a film called, Black Widows, produced by John Robinson. It was an amazing experience, she said. It kept my mind concentrated on something else, instead of wallowing and thinking, Oh no, am I going to make it?

Sherry Connelly displays her movie "Momma's Baby Boy" that she was working on when she was diagnosed with breast cancer.

Connelly also plans to act in two more films produced by Robinson. More information on the films can be found at http://www.bddentertainment.com.

Another factor that played into Connellys treatment was her support system. My mom shes 88-years-old she came to every treatment and every doctor's appointment. She was right there beside me, she said. My brother came when he could, too.

Connelly said the staff in the oncology department at Frye Regional Medical Center in Hickory was, just amazing.

If I came in and looked like I was not feeling the way I should be feeling, they would call the doctors and let them know," she said. "They would get me anything I needed, and it meant the world to me."

She remembers one nurse in particular Sherri Stone.

She has been amazing," Connelly said. "She would be off, and I could inbox her or call her and she would tell me what I needed to do.

When Connelly was in treatment, Stone was an infusion nurse in the oncology department, but would go above and beyond her job description to help patients like Connelly.

If I needed something, she (Stone) could just tell and she would make that call for me. She made sure that I got what I needed, Connelly said. I love her.

Today, Stone is an oncology nurse navigator and continues to support cancer patients at Frye. Connelly said without that support, battling cancer is much harder.

It means everything for you to have a support system, she said. Youre going to have those days where you just feel like giving up, throwing in the towel. I felt like that, but you have to keep fighting and push through.

People think that cancer is a death sentence, she continued. Its not now. There is so much technology out there to help, and you cant give up. Youve got to keep going.

Connelly is now in remission and plans to continue her acting career as long as she can.

Cancer navigators guide breast cancer patients through the early stages of diagnosis

Cancer navigator Crystal Deese at Catawba Valley Medical Center, discusses how she helps cancer patients navigate the numerous levels of patient care.

Throughout her nursing career, Crystal Deese has played many roles, but oncology has always had a special place in her heart.

Thats the whole reason I went into nursing was for oncology, Deese said. I was in high school when my grandmother was diagnosed with cancer. And I just remember her saying, I wont be here for you to help me, but you can help someone else.

For the last 20 years, Deese has worked with cancer patients in one way or another, whether that is at the start of the cancer journey, at the end of treatment or at the end of the battle with hospice care.

Now, Deese is the interim breast cancer navigator at Catawba Valley Medical Center.

The navigator, I guess you can say, is the middle person that connects them to the surgeon or the oncologist after the initial diagnosis, Deese said. Im the first person that makes contact with them. Me along with the radiologist, when we get the positive pathology report back, we bring them in and then point them to the surgeon.

Deese calls working with cancer patients a calling.

I have a strong faith, she said. ... Its not something that I would have ever chosen to do for money or write anything that way.

She feels the same way about her time working in hospice care.

It was a great honor to be invited into someones home and you be able to be there to take care of them, Deese said. It was a privilege more than anything. Then you get to see them where theyre happy and theyre comfortable, and where they want to be. Not in the hospital setting.

Working as a breast cancer navigator does have its challenges, especially since Deese doesnt have many answers for patients when theyre first diagnosed.

Deese and a radiologist are usually first to tell breast cancer patients that their biopsy came back positive for cancer. They cant really tell them exactly what type of treatment theyll receive or how long, but they can sometimes let the patient know that chemotherapy, radiation and maybe surgery are on the horizon.

Youre the first person to make contact with these ladies, and telling them whenever they get the diagnosis that yes, you have cancer, Deese said. But then we also like to say, yes, you have cancer, but now we know what were dealing with. And no, nobody has this as part of their plan, but now we can get you going in the right steps as to whats next.

When someone is diagnosed with breast cancer, Deese said, the reaction can vary. Sometimes the patient has many questions, and other times they are silent.

Cancer navigator Crystal Deese displays some of the cancer publications that she uses to help cancer patients with their journey.

The initial response, its so mixed, but most of the time its: Am I going to have to have chemotherapy? Will I have to have radiation? Or will I lose my breast altogether? What happens when you meet the surgeon? Deese said. Some have no questions. Some are just so overwhelmed. Theyre like Ill have to call you back, and then there are some that come in with questions.

If a patient has a financial hardship, Deese and the other cancer navigators can assist the patient in finding the right financial assistance programs as well as support groups, transportation services and more.

Deese says keeping up with your yearly breast exams is essential.

I dont think you can stress enough the importance of doing your screening mammograms, she said. Because I believe with the changes and the advances that weve made in treatment, its a very curable diagnosis, if we catch it early enough. So its the screening and prevention I think that can make the biggest difference.

Assessing your risk may help prevent breast cancer from affecting you and your family

By Melissa L. Teague, Frye Regional Medical Center

Most cancers start with abnormal cells growing out of control. Sometimes you will experience symptoms, but often you will not. Thats why cancer high-risk assessment programs are so important. Finding and treating cancer in its earlier stages is potentially lifesaving.

Frye Regionals clinic is staffed by a specially trained high-risk coordinator who helps assess your genetic risk for certain types of cancer including breast, ovarian, colon and uterine cancer. The coordinator gathers information about your background and family history and can help determine if further testing is necessary.

What is genetic testing?

Genes are found in chromosomes and are made up of DNA. We inherit genes from our parents. Our gene structure dictates how our body grows and regulates. When genes are normal, they work properly. When genes are abnormal or damaged, they can lead to disease. These are called gene mutations or changes. Some changes run in families (hereditary), and some happen by chance. A gene mutation can be the sole cause of disease. However, most diseases occur from a mixture of genetic and environmental factors.

Genetic testing looks at your genes to check for any mutations. The test is done with a sample of blood or saliva. There are several reasons why you might do genetic testing:

To diagnose a disease or a type of disease.

To determine the cause of a disease.

To determine treatment options for a disease.

To find your risk of getting a certain disease that possibly can be prevented.

To find your risk of passing a disease to your children.

How can a genetic counselor and/or high-risk coordinator help me know if I should have the screening?

Talk to your doctor if you think you are at risk for an inherited disease. They may refer you to a genetic counselor, who can review your family history and provide advice. They will ask you questions about your health and the health of your blood relatives. This information can calculate what your risk may be. It can help you decide whether you want to get testing. It also may determine if your insurance will pay for the testing.

How do you know who should be tested?

If one of your family members already has the disease, that person should get genetic testing first. This will show if their disease was passed down or occurred by chance. People from different ethnic groups are more at risk of certain diseases.

What does it mean if you are positive or negative?

A positive test result means that you have the gene change. This increases your risk of the disease. However, it does not guarantee that you will get the disease. It does mean you could pass the mutation to your children.

A negative test result means that you dont have the gene change. This may mean the disease doesnt run in your family or wasnt passed down to you. A negative result does not guarantee that you wont get the disease. It means that your risk of the disease is the same as it is for other people.

What about my children?

If your test is negative, you cannot pass a gene to your children; however, if you are positive, you could pass down the gene mutation to your children. It also means your daughters or sons may need closer surveillance for early detection.

Things to consider

Genetic testing has pros and cons. These can change depending on your situation. Keep in mind that genetic testing is voluntary. You should not feel forced to do it.

Some benefits of genetic testing include:

You may be less worried about developing a certain disease.

You may be motivated to change your lifestyle to reduce your risk.

You may be better prepared to move forward with family planning.

You may be able to get treatment to prevent the disease. This could include medication or surgery.

Your doctor will know how often to check for the disease.

Questions to ask your doctor

How do I know if I should see a genetic counselor?

If my genetic testing result is positive, what is my risk of getting the disease?

What can I do to prevent or treat the disease?

Should my genetic testing be done in a clinical setting or can I do it from home?

Breast cancer patients form special bond during treatment

photos Courtesy of Catawba Valley Medical Center

Courtesy of Catawba Valley Medical Center

When nurses noticed the uncanny similarities between breast cancer patients Kathy Rector and Cheryl Kiser, they decided to seat the women together during a chemotherapy treatment at Carolina Oncology Specialists in Hickory.

Rector and Kiser became fast friends, forming a bond over battling the potentially fatal disease and coining a name, Chemo Country Club, with the tagline now accepting short-term members only in honor of the place they met.

We were basically therapists for each other, Kiser said. We shared a wide range of emotions and strength in our determination to beat cancer. We inspired each other, lifted one another up, and found ways to belly-laugh through the process.

Both elementary school teaching assistants, Rector, 63, works with exceptional students at West Alexander Middle School and Kiser, 51, helps in kindergarten and first grade at Sherrills Ford Elementary, where she also drives a bus route.

The women synchronized treatment appointments and remained in touch through texts and calls along the way.

We found empathy, hope and companionship in the common ground of side effects hair loss, nausea, vomiting, nerve pain, and chemo brain, Rector said.

They also drew strength from their husbands, children and faith in God.

How they were diagnosed:

Notably, both women discovered suspicious lumps by self-exam despite having clear 3D mammograms within eight months before diagnosis.

Rector:My sister faced breast cancer two years ago, but we didnt have a family history of the disease before then. When I felt a lump about 2 inches in diameter in the center of my breast during vacation last September, I saw my gynecologist the following week and got the news a diagnosis of triple-negative T2 breast cancer with positive lymph nodes.

Kiser:My mother and grandmother both had breast cancer, so I took the BRCA genetic test to see if I was prone to the disease. Results showed no, but when I felt a lump, I made a beeline to Dr. Elizabeth Restino at Catawba Valley Family Medicine-Southeast Catawba, my primary care physician. She ordered a breast ultrasound and biopsy at Catawba Valley Imaging Center which confirmed the presence of T3 invasive ductal carcinoma, meaning cancer had spread to the tissue under my arm. A PET scan also revealed tumors on my ovaries.

Rector and Kiser both recall the quick transition of initial shock to fierce determination. After the sadness of delivering such emotional news to family and friends over the holidays, they faced the difficult process of telling faculty, parents and students at their schools, which triggered additional worry and a more public form of concern.

Rector continued working through treatments, wearing a mask to minimize germ exposure in the smaller setting of her classroom. But Kiser took a leave of absence given the extended population she came in contact with daily. From here, the battle ensued.

Rector:I had a breast lumpectomy in November, started chemo in December and then began 32 radiation sessions at Catawba Valley Health System Radiation Oncology. Two days after Christmas, my hair started coming out. The more I brushed, the more I cried. I tried wearing a wig, but it gave me such a headache, I decided just to wear hats. Late February, my first grandchild, Aubrey, was born when I was sick. I had to wait two long weeks before traveling to Ocean Isle and hold her in my arms.

Kiser:For me, processing my diagnosis was a God thing. He allowed me to absorb things one at a time. I didnt do research on my own. Instead, I protected my mind and trusted Dr. Orlowskis recommendations to first shrink the breast tumor with chemo before having surgery to remove that breast and my ovaries. As radiation began, Kathy and I had radiation mapping done to identify precise targets for the True Beam radiation system to prevent damage to surrounding healthy tissue. Kathy wanted to compare maps, so we laughed about where they marked an X on my treasure map, and that her map had a whole lot of hills!

Prayers and acts of kindness enveloped the newfound friends during the long and challenging months of their respective cancer treatments. From extended family to people in their church and school communities, both expressed deep gratitude for the uplifting support that saw them through.

Rector:Im extremely grateful for all the people who lifted me up in prayer and the churches that sent handcrafted prayer shawls, which I draped over me during treatments. I was also touched when West Alexander Middle School initiated a fundraiser and wore Team Rector T-shirts in the Cancer Relay for Life.

Kiser:I didnt think I was very vain. But when I lost my hair, I didnt want to leave my room. Austin, my oldest son, had an ongoing bet with his college roommate about who would first cut their hair. Guess what? Austin cut his hair and made a wig for me!

As the women reached key milestones and learned that treatments worked, they celebrated with each other and their whole care teams.

The pair has fond memories of the doctors and nurses who worked to save their lives:

Courtesy of Catawba Valley Medical Center: Kathy Rector (left) and her friend Cheryl Kiser celebrate the end of their chemotherapy treatment for breast cancer at Catawba Valley Medical Center. The two became friends while undergoing treatment.

Debbie, at Catawba Valley Health System Radiation Oncology, who inspired them with her personal story of survivorship; Dr. Reggie Sigmon, radiation oncologist and Len Hurst, medical physicist; Dr. Richard Orlowski, oncologist and Diane Fox, physician assistant, both at Carolina Oncology Specialists; and Wake Forest Baptist Health general surgeon Dr. Kenneth Parrish, general surgeon.

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PINK: Stories and photos devoted to the warriors who fight breast cancer - Hickory Daily Record

Blind and partially sighted people no longer have to wait passively for a research breakthrough in hope of treatment options. In fact, people living with genetic eye conditions can now actively drive vision research forward by enrolling in a patient registry and getting their genes tested.

There are 2.2 billion people living with visual impairment globally. Some are living with inherited retinal diseases that are progressive and can lead to complete blindness. Up until recent years, blind and visually impaired people were told that no treatment is available. This is changing as genetic testing is paving the way for a surge of gene therapies.

My doctoral dissertation at the University of British Columbia was on drug therapy for retinitis pigmentosa. This progressive, blinding eye condition is the most common type of inherited retinal disease.

In people affected by retinitis pigmentosa, the light sensing cells in their retina photoreceptors die early. Unlike skin cells that regenerate, the body does not make more photoreceptors once they are damaged.

As a vision scientist affected by retinitis pigmentosa, I am passionate about finding the truth about the disease. Why do photoreceptors die? How can we stop it? How can science and medicine help?

When I was 12 years old, I realized while at summer camp that my night vision was disappearing. In the last two decades, I lost my peripheral vision, contrast sensitivity and depth perception.

I worked in Dr. Orson Moritzs lab at the UBC department of ophthalmology and visual sciences, which focuses on research using tadpoles that contain known human mutations for retinitis pigmentosa to understand the disease.

I made an alarming discovery in our animal model: knowing the genetic cause of retinitis pigmentosa is vital for treatment with one class of drugs histone deacetylase inhibitors. These determine how genes are switched on or off.

A similar study in mice showed that the same drug reacted differently to variations in a single mutant gene that also causes retinitis pigmentosa.

Treating retinitis pigmentosa is like extinguishing fire. To stop a fire, you need to know whether its water-based or grease-based. If you try to use water to stop a grease fire, the damage gets worse.

Blind and visually impaired people can advocate for eye health by enrolling in a patient registry. Participation in a registry benefits researchers by offering more information about the disease.

In Canada, individuals can self-refer to Fighting Blindness Canadas secure, clinical patient registry. This database is dedicated to connecting people living with retinal eye diseases to clinical trials and research.

When a gene therapy trial arises, researchers draw participants from this database. Since gene therapy aims to correct an underlying genetic mistake in DNA that causes disease, knowing the genetic cause of a disease is a criteria for most gene therapy trials.

Globally, other registries include My Retina Tracker in the United States, Target 5000 in Ireland, MyEyeSite in the United Kingdom, the Australian Inherited Retinal Disease Registry and Japan Eye Genetics Consortium. In New Zealand, Dr. Andrea Vincent has established the Genetic Eye Disease Investigation Unit. There is even a Blue Cone Monochromacy Patient Registry for one rare eye condition.

In the last two decades, the number of gene therapy trials has blossomed. Currently, 250 genes on inherited retinal diseases have been identified. In 2017, the first gene therapy for inherited retinal disease Luxturna was approved by the United States Federal Drug Administration.

To date, there are trials for: retinitis pigmentosa; Usher syndrome, a condition that involves hearing and vision loss; achromatopsia, a disease that causes colour blindness; X-linked retinoschisis, a dystrophy that causes splitting of the retina and affects mostly in males; and age-related macular degeneration, the third-largest cause of vision loss worldwide, caused by the interplay between genetics and environment.

Enrolment in a patient registry and genetic testing advance the design of gene therapy trials. This in turn benefits blind and visually impaired people.

Research advancement is a concerted effort across the globe blind and partially sighted people should know they have the power to push it forward.

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The blind and visually impaired can help researchers by getting their genes tested - The Conversation CA

As a cardiovascular genetic counselor with more than 15 years of experience, I know firsthand the critical importance of identifying genetic risk in a timely manner. Genetic counselors are in a unique position to help patients and their providers navigate medically complex genetic risk factors.

Everyday, genetic counselors are evaluating and providing guidance on the constantly evolving nature of genetic testing. With their advanced training in medical genetics and counseling, certified genetic counselors are able to provide state of the art services, accurately assess risk, identify the right genetic test, ensure correct interpretations of genetic test results and guide patient decision-making.

The National Institutes of Health recognizes that genetic counselors are trained to help patients and caregivers understand the scientific, emotional and ethical factors surrounding the decision to have genetic testing. Genetic counselors use their expertise to collaborate with healthcare providers on the best medical pathway forward for the patient, based on the test results.

Complex genetic tests are rapidly evolving, greatly magnifying the need for Medicare beneficiaries to have access to genetic counselors who can guide them through the complex testing process.

The Medicare program does not reimburse certified genetic counselors directly. Direct access to a certified genetic counselor would help ensure that more Medicare patients receive critical services in time to avoid costly complications and improve health outcomes. This is particularly true for seniors at risk of hereditary heart diseases, cancer or neurological conditions for these patients, genetic counseling is an essential service that is best delivered by a certified genetic counselor.

The Medicare program has not kept pace with changes in innovation and payment for genetic testing and counseling. Congress has an opportunity to address this program failure, and help beneficiaries, by adopting the Access to Genetic Counselor Services Act. The legislation would authorize the Centers for Medicare & Medicaid Services to recognize certified genetic counselors as health-care providers.

The proliferation of genetic testing is exploding, and will only continue to grow in the future. Medicare is expected to spend approximately $23 billion in the next ten years on these tests. Evidence indicates genetic counselors can help drive cost efficiencies by providing guidance about which genetic tests would be most beneficial depending on a patients situation and working with patients and their providers to determine if genetic testing is appropriate.

Genetic counseling services can also help ensure Medicare beneficiaries do not face avoidable complications and are not subjected to additional costs. And Medicare already covers genetic counseling, but the program only reimburses other practitioners to provide it.

To ensure access and address the complexity of genetic testing in appropriate medical care, the National Society of Genetic Counselors (NSGC) strongly supports the Access to Genetic Counselor Services Act introduced in Congress. Sponsored by Reps. Dave LoebsackDavid (Dave) Wayne LoebsackIowa Democrat tops Ernst in third-quarter fundraising for Senate race House Democrats targeting six more Trump districts for 2020 The House Republicans and Democrats not seeking reelection in 2020 MORE (D-Iowa) and Mike KellyGeorge (Mike) Joseph KellyAmerica's workers and small business owners need the SECURE Act House votes to repeal ObamaCare's 'Cadillac tax' GOP lawmaker: 'I'm a person of color. I'm white.' MORE (R-Pa.), the legislation would authorize CMS to recognize certified genetic counselors as health-care providers and reimburse certified genetic counselors for services delivered to Medicare beneficiaries at 85 percent of physician payment levels for the same services.

Research demonstrates that genetic counselors save health care dollars when involved in the testing process and can increase compliance with the recommended medical management plan all priorities as personalized medicine and genetic testing become more prevalent.

The National Society of Genetic Counselors, as well as more than 200 organizations, patients and health-care providers, strongly encourages Congress to enact the Access to Genetic Counselor Services Act, which can make a critical impact on the health of individuals and their families.

Amy Sturm is the president of the National Society of Genetic Counselors' Board of Directors and a professor and the director of Cardiovascular Genomic Counseling at the Geisinger Health System Genomic Medicine Institute.

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Genetic counselors save health care dollars when involved in the testing process | TheHill - The Hill

ALISO VIEJO, Calif., Oct. 15, 2019 /PRNewswire/ -- Ambry Genetics (Ambry), a leading clinical genetic testing lab, will present data at the American Society of Human Genetics (ASHG) annual conference this week from the first prospective study of paired RNA and DNA genetic testing for hereditary cancer risk, called +RNAinsight. The data from this study of the first 1,000 patients to receive +RNAinsight show a significant increase in diagnostic yield (identifying mutations in our DNA as disease-causing) compared to DNA testing alone. This is the first major increase in diagnostic yield for hereditary cancer risk in over 10 years. Through +RNAinsight, Ambry is the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer as a commercially available clinical test.

Standard DNA testing excludes large portions of DNA, thereby missing some mutations that cause increased risks for cancer. In addition, DNA testing for hereditary cancer risk can produce inconclusive results and fail to determine that a variant (an error in our DNA) increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection steps, or certain therapeutic treatments, and relatives may not be referred for genetic testing and subsequently may not be referred for necessary high-risk surveillance. Adding RNA to DNA testing overcomes these limitations for a substantial number of patients as RNA provides considerably more evidence than DNA alone about whether our DNA has variants that increase cancer risk.

At ASHG, Ambry will present data showing that +RNAinsight both (1) identified new variants that increased cancer risk and that would have been missed with DNA testing alone, and (2) determined whether certain variants actually increased cancer risk even though DNA testing alone would have been inconclusive and left doctors without this crucial information.

"Combining RNA and DNA genetic testing lets more people know they have genetic mutations that increase their risks for cancer, empowering them to take action to better manage their cancer risks," said Tyler Landrith, Ph.D., an Ambry scientist who will present the study. "+RNAinsight is the first major, genetic-testing advancement in over 10 years to increase diagnostic yield for hereditary cancer risk."

Dr. Landrith will present data from a prospective analysis of 1,000 patients who received RNA genetic testing (for up to 18 genes). The data show a relative increase in diagnostic yield of 9.1 percent more than DNA testing alone. Adding RNA genetic testing also resulted in a 5.1 percent relative decrease in the number of patients that would have received inconclusive results with DNA testing alone and would not have learned whether they had increased cancer risk.

The prospective study also validated the accuracy of +RNAinsight, establishing a large control dataset of healthy patients. This dataset allowed Ambry researchers to establish a baseline for benign and disease-causing mutations across the genes tested. Dr. Landrith will address the validation in his presentation.

In addition to the prospective study, Ambry Senior Research Associate Blair Conner, M.S., will present data at ASHG showing that RNA genetic testing provided additional evidence to clarify the interpretation of 15 complex variants in genes associated with increased risks for breast, ovarian, colorectal, uterine, and other cancers. Without RNA genetic testing, these variants would have remained inconclusive. This means that past, current, and future patients who otherwise would not have learned they have increased risks for these cancers will now have crucial information to more precisely tailor their medical management for the prevention, early detection, and treatment of cancer.

"An inconclusive result can be unsettling for patients, especially for patients with a strong family history of cancer. Both clinicians and patients may worry that current technology has missed disease-causing mutations in the genes tested," said Ms. Conner. "These data show how +RNAinsight was able to overcome the technological limitations of DNA genetic testing by turning inconclusive results into actionable information for clinicians to better guide patient care."

+RNAinsight is now available through doctors and genetic counselors around the country. For more information on RNA genetic testing, please go to http://www.ambrygen.com/RNAinsight.

For the full list of studies that will be presented at ASHG, please see below:

Oral Presentations:

Wednesday, October 16, 1:00PM - 2:00PM Session 112, Room 310A, Level 3, Convention Center Exome and RNA-based Sequencing Methods for Variant Interpretation to Improve Clinical Utility1:15PM | #197 High-throughput RNA splicing profile increases detection of clinically-actionable variants while reducing inconclusive results in patients with hereditary cancer predisposition. T. Landrith, B. Li, A. Cass, B.R. Conner, S. Wu, H. Vuong, S. Charpentier, J. Burdette, H. LaDuca, T. Pesaran, J. Rae-Radecki Crandall, H. Lu, B. Tippin-Davis, A. Elliott, R. Karam. 1:45PM | #225 Reclassification of splicing VUS in neurological disease genes via RNA-seq. S. Ichikawa, B.R. Conner, S. Wu, R. Karam.

Poster Presentations:

Poster# 990W: Wednesday October 16, 2:00PM - 4:00PMLeveraging tumor characteristics to predict germline variant pathogenicity in mismatch repair genes. S. Li, D. Qian, B.A., Thompson, S. Gutierrez, T. Pesaran, H. LaDuca, H. Lu, E.C. Chao, M.H. Black.

Poster# 2449T: Thursday October 17, 2:00PM - 4:00PMRNA-seq identifies structural variants in hereditary cancer genes. B. Conner, M. Richardson, F. Hernandez, T. Landrith, T., McBride, B. Tippin-Davis, R. Karam.

Poster#1454F: Friday October 18, 1:00PM - 3:00PMAccounting for splicing effects in known missense variants improves in silico prediction of deleterious effect. D. Qian, J., Clifford, A. Tchourbanov, Y. Tian, M.H. Black, H.M. Lu, Z. Zhu, S. Li.

ABOUT AMBRY GENETICsAmbry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visit ambrygen.com.

For more information on risk factors for hereditary cancer, please visit cancer.gov's fact sheet on hereditary cancer and genetic testing.

Press Contact:Liz Squirepress@ambrygen.com (202) 617-4662

View original content:http://www.prnewswire.com/news-releases/new-data-from-ambry-genetics-demonstrates-impact-of-first-major-advancement-in-over-10-years-to-increase-diagnostic-yield-in-genetic-testing-for-hereditary-cancer-risk-300938313.html

SOURCE Ambry Genetics

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New Data from Ambry Genetics Demonstrates Impact of First Major Advancement in Over 10 Years to Increase Diagnostic Yield in Genetic Testing for...

While current national and international guidelines recommend genetic testing in women with breast cancer who have relevant family history or clinical criteria, patients with breast cancer and genetic pathogenic variants do not always have a positive family history, potentially leading to improper screening for at-risk women. A recentstudyinJAMA Oncologyestimated incremental lifetime effects, costs, and cost-effectiveness of multigene testing of all patients with breast cancer compared with the current practice of genetic testing (BRCA) based on family history or clinical criteria.

The microsimulation modeling study compared lifetime costs and effects of high-riskBRCA1/BRCA2/PALB2(multigene) testing of all unselected patients with breast cancer (strategy A) againstBRCA1/BRCA2testing based on family history or clinical criteria (strategy B). Both strategies were evaluated with United Kingdom (UK) and US populations.

Have you seen:GBCA breast MRI images - Part 1

Data were collected and analyzed from January 1, 2018 through June 8, 2019. Four large research studies supplied data from 11,836 patients in population-based BC cohorts (regardless of family history). The women in these cohorts were predominantly white and representative of a Western population ethnicity.

For the model, all women with breast cancer underwentBRCA1/BRCA2/PALB2testing in strategy A. In strategy B, only women with breast cancer fulfilling family history or clinical criteria underwentBRCAtesting.BRCA/PALB2carriers could undertake contralateral preventive mastectomy, whileBRCAcarriers could also choose to undergo risk-reducing salpingo-oophorectomy (RRSO). Those whose relatives were mutation carriers also underwent cascade testing. Unaffected relative carriers could undergo magnetic resonance imaging or mammographic screening, chemoprevention, or risk-reducing mastectomy for breast cancer risk and RRSO for ovarian cancer risk.

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Is it cost-effective to do genetic testing on all women with breast cancer? - Contemporary Obgyn

As DNA sequencing becomes more common, providers face a dilemma over how much information they should reveal to their patients about their risks for untreatable conditions.

What providers need to know about genetic testing and other new clinical innovations

Clinics and research groups that perform genetic testing typically limit their reporting to 59 gene variants recommended by the American College of Medical Genetics and Genomics. The list includes certain disease-causing variants for heart disease or breast cancer, for example, but not variants for conditions that aren't treatable, such as amyotrophic lateral sclerosis or Alzheimer's disease. As such, test results usually include only information that is "medically actionable."

To some providers, this limitation makes sense. They argue that giving patients results about genetic traits that aren't fully understood or medically actionable could lead patients to seek unnecessary or harmful care, or worry about a disease they may never get.

For similar reasons, NIH's All of Us genetic testing research program doesn't plan on returning results to patients that researchers deem not to be actionable. Brad Ozenberger, genomics program director for All of Us, said, "We don't want to frighten people, have them potentially change medical care, unless we're really confident in that result."

Separately, Keith Stewart, director of the Mayo Clinic's Center for Individualized Medicine, said, "There is a risk of causing undue anxiety."

However, some providers argue researchers shouldn't pick and choose what genetic information they provide to their patients.

Robert Green, a geneticist and professor at Harvard Medical School, said, "It's their body and their DNA. We have a responsibility to scientific truth and clear communication."

Studies have found patients want this information as well. For example, a 2016 paper in the Journal of Genetic Counseling found that 72.5% of research participants surveyed wanted to receive all of their genetic testing resultseven those related to untreatable conditions.

Green published a separate study in the New England Journal of Medicine involving patients who were told they had a genetic risk of Alzheimer's disease. Although patients experienced "transient, modest distress," 98% said they would get their test results again.

Similarly, last year, Geisinger, a health system in Pennsylvania, started offering some patients information about their genetic risks for brain disorders, including some conditions that are largely untreatable, the Journal reports. Almost 90% of the patients said they wanted the results.

Sara Kirkland, a participant in Geisinger's sequencing program, said of the decision, "Am I total comfortable? No. But I'm rarely comfortable with any decision we reach because this stuff is really complex. I am willing to say that it is a responsible approach to take" (Evans/Wilde Mathews, Wall Street Journal, 10/4; Owens, "Vitals," Axios, 10/7).

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If your DNA test reveals you're at risk of an untreatable condition, would you want to know? - The Daily Briefing