Archive for the ‘Genetic Testing’ Category

Clinical vs. DTC Genetic Testing

When 23andMe laid off roughly 100 employees last month, it was another admission that direct-to-consumer, or at-home, genetic testing sales are down at some leading companies. The reasons, however, while varied, have nothing to do with the interest in genetic testing. People want the information but it seems many prefer to get it from their doctors.

Theres reason for the interest: The field of genetics is booming.

Since the 1990s when we started testing for BRCA1, BRCA2 [which most notably increase the risk of breastandovarian cancers]and TP53 [which regulates cell division and keeps tumors from forming], the number of indications, or signs for cancer and the number of genes we can identify has expanded. And it will only continue to grow, Dr. Banu Arun, co-medical director of the Clinical Cancer Genetics Program at MD Anderson Cancer Center, tells SurvivorNet.

She notes that clinical genetic tests can aid in making recommendations for surveillance, determine prognosis and assist in treatment decision-making for cancer patients. Direct-to-consumer genetic tests dont offer that proverbial microscope.

When trying to understand your hereditary cancer risk, saysDr. Arun, clinical testing is the way to go.

Comparing DTC to clinical testing for cancer is actually a bit like apples to oranges.

Direct-to-consumer tests, which are relatively inexpensive ($99 and up), can make predictions about peoples health and ancestry. But theyre limited when it comes to offering tests for cancer risk. Currently, theFood and Drug Administration (FDA) has allowed at least one direct-to-consumer genetic testing company, 23andMe, to offer a test for cancer risk; it looks for three specific variations in BRCA1andBRCA2.

With direct-to-consumer testing, its only a very small piece of the puzzle, Megan Frone, board certified genetic counselor in the Clinical Genetics Branch at the National Cancer Institute, tells SurvivorNet. I think about it like a typo somewhere in a novel, she says. Theyre only looking at three pages, she says. You could have a typo anywhere else in the novel thats breaking that gene and giving you a higher risk for cancer, and theyre just not looking.

Clinical-grade testing can analyze the risk of 50 different types of cancer, according to The National Cancer Institute.

A study last year from the National Center for Biotechnology Informationnotes some other drawbacks, including how DTC tests frequently do notprovide conclusive results.

Most genetic tests performed by DTC companies are limited to few major genetic variants related to the phenotypes of interest, which leads to poor discriminatory power, it notes.

This means DTC genetic testing does not guarantee that a consumer with a high genetic risk score will suffer from a certain disease, it only indicates a genetic propensity.

Plus, test results could reveal other, unexpected, health risks.

You have to ask, Are they going to tell me about specific results I might not want to know about?' Frone says. Some at-home tests will tell you your risk for carrying certain Alzheimer gene variants. We dont have any particular treatment for Alzheimers. Some people dont want to know about that stuff because theres nothing they can do about it. They dont necessarily realize that theyre going to get that back on a test report.

All of which points to that important ingredient: an expert who can interpret and make an action plan.

DTC tests are often conducted without the involvement of a healthcare provider and without an understanding of clinical validity and utility, notes theCenters for Disease Control.

A recent study based on anonline survey of 1,001 adultsrepresentative of the population, found that public awareness of genomics and personalized medicine was not increasing in line with advancements in the industry. Seventy-three percent of the survey respondents had not heard of genetic counseling which is conducted by certified health professionals to advise consumers/patients on how to interpret genetic test results.

The first step for someone interested in learning about their risk for developing cancer, according to Frone, is to speak with a health care provider or genetic counselor to learn about options. Then, a risk assessment can be conducted by a certified genetic counselor.

In this type of consult, theyll look at personal medical history and family medical history. And, if youre female, theyll look at your hormonal risk factors, Frone explains. There are computer models to identify risks and patterns within someones personal and family history.

The next step, she says, is to discuss what needs to be done to test for the potential hereditary cancer syndrome.

People need to go into it understanding that genetic testing is really complicated, Frone says. To achieve the full value of it, weve got to apply the genetic test results in the context of their family health history and their other risk factors to understand final risk. Direct-to-consumer testing is very different from that. Its more recreational.

For those identified during the consult as being higher risk, insurance typically covers clinical testing. For people at a lower risk, they may be advised to skip testing altogether, or, they can pay out-of-pocket (costs can vary from $250 or more depending on whether a single gene or the entire genome is being tested).

For example, the BRCA1 and BRCA2 test 23andMe runs has been given the green light from the FDA, meaning the agency has determined that the benefits of the product outweigh the known risks for the intended use.

This specific test looks at three variants to determine if a woman is at an increased risk for developing breast and ovarian cancer, or if a man is at a higher risk for developing breast and prostate cancer.

It really is most relevant for individuals with Ashkenazi Jewish background because it can only look at three variants that can occur in these genes, when there are thousands possible, Frone says.

The actual test has been put in the Medical Devices class II risk category by the FDA. Class I devices, such as dental floss, are lowest risk. Class II, which includes condoms and powered wheelchairs, are moderate risk. Class III devices, such as pacemakers, require FDA approval in order to be marketed, while class I and II do not.

These mutations are most common in people of Ashkenazi Jewish descent and do not represent the majority of the BRCA1/BRCA2 variants in the general population, the FDA cautions.

Researchers estimate that roughly 5-10 percent of all cancers have a known genetic element, so while DNA tells a story, it doesnt write the entire script. External factors, like environmental nutrients or toxins, and lifestyle choices also influence risk for developing cancer.

Learn more about SurvivorNet's rigorous medical review process.

Kim Constantinesco is a freelance writer who specializes in health and founder ofPurpose2Play, which reports on positive and inspiring stories in sports. Read More

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Genetic Testing Is on the Rise Heres Why to Get it Done Through a Health Care Provider - SurvivorNet

(Reuters) - Genetic testing specialist Qiagen (QIA.DE) should have a targeted test for the coronavirus ready this month and is extremely active in providing products to disease control institutions in China, its interim CEO said on Wednesday.

But while Qiagen could boost profits by focusing on products identifying the coronavirus it will continue to bet on growth in its molecular diagnostics business, rather than uncertain one-off gains, CEO Thierry Bernard told a results conference call.

The company headquartered in the Netherlands, which makes diagnostic kits for cancer and tuberculosis as well as products for identifying viruses, reported better than expected quarterly sales and profit growth late on Tuesday.

Qiagen shares were up 5.6% at 1555 GMT on Wednesday, set for their best day in three months.

Bernard said in a results statement on Tuesday that Qiagen had not included global demand for products that can be used to recognise the coronavirus in its 2020 outlook, given the uncertainties around broader business trends in China.

The company is looking into different variants of coronavirus testing solutions, including options using QIAsymphony, NeuMoDx or a syndromic solution, Bernard told the call on Wednesday.

Qiagens increased focus on its molecular diagnostics division is one of the reasons why its adjusted operating margin of 33.5% in the fourth-quarter came in well above its own forecast and the market consensus, analysts have said.

Bernard said the divisions QIAsymphony automation system could become a important source of new growth after its long-established major growth driver, the tuberculosis test QuantiFERON, saw a slowdown in the fourth quarter.

After Qiagen reached a new milestone with more than 2,500 cumulative placements of QIAsymphony in January, the product has become a steady and consistent growth engine and it is planning for more than 200 new placements in 2020, he said.

Thanks to its expanded partnership with DiaSorin, Qiagen should be able to grow QuantiFERON by double digits again in 2020, Berenberg analysts said.

Reporting by Zuzanna Szymanska; Editing by David Clarke

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Qiagen expects coronavirus test to be ready this month: CEO - Reuters

New Squamish resident Dianne Russell moved to town in November, eight months after meeting her dad, Tom James, for the first time.

Long-time local James didn't know he even had another daughter before last summer.

Though dramatic, such a reunion tale really couldn't have worked out better.

Russell was raised in Kamloops, knowing she was adopted.

She was living in Vancouver until last fall.

Bouts with breast cancer led the 48-year-old to seek genetic testing in 2017. Denied this testing through the provincial government, she used the home DNA kit, 23andMe.

"I got my results, but found no genetic risk for breast cancer, she said, adding that at the time, she ignored the relatives section of the site.

But a year ago on Valentine's Day, she got a message in her inbox that would change the course of her life. "Hi, I'm not sure where you fit on my family tree, but it looks like we're cousins or something," read the message.

Long story short, she found cousins who eventually connected her to her Squamish father, James, who up until that point had no idea a short high school relationship had created a child, never mind that the baby girl had been adopted.

Russell was conceived in Squamish and born in Nanaimo.

"The next day after he found out, I got a phone call at 9 a.m. and we talked for over an hour and we have talked almost every day since," Russell said.

They met in person in June.

"My dad is just the most amazing man," she said. "He is a wonderful, emotional, supportive, empathetic man. I won the family lottery."

After their first meeting, there were trips to Squamish for Russell and her husband to spend time with her dad, his girlfriend and the rest of the family.

"Not only do I have a wonderful, loving father with whom I get along like a house on fire, but I have an amazingly supportive half-sister and half-brother, a nephew, four uncles, two aunts, in-laws, and a slew of great aunts, uncles, cousins, and more cousins many of them are here in Squamish, which is why my husband and I decided to move here from Vancouver."

The whole family and community of Squamish have enveloped her with open arms, Russell said.

"This situation has the possibility for a lot of discomfort and judgment and it hasn't felt like that ever."

There have been two large family reunions since she was introduced, Russell said, and the acceptance has been overwhelming.

"My family is Mtis, actually, and my great aunt presented me with a Mtis sash," Russell said, adding she had thought she was of British origin growing up.

"I am not English," she said with a hearty laugh.

Russell said she and her husband had been thinking of moving before all of this happened and once she met her long-lost family in Squamish that sealed the deal to move here.

"We missed so much time together that we just wanted to be here," she said.

From getting the first message about her family to today, the journey has been full of a mixed soup of emotions, Russell acknowledges.

Grief is one of the emotions she has dealt with.

"Because I think we both didn't have each other," she said. "We didn't have each other for 48 years. He didn't know I existed. He didn't have the opportunity to know me."

Her father's parents, her grandparents, both died without knowing she existed, she added. "There is grief on both sides, I think."

Her advice for anyone starting out on the journey of DNA testing is to be open to unexpected things and unexpected feelings, and reactions.

"You have to process it as you go."

"It was just like I had known her my whole life," James said of his first phone call with Russell. The pair talked long enough to kill the cellphone battery, he said.

"It was so bizarre and so easy. It was natural amazing."

When they met in the flesh at Park Royal on June 13,

"It was oh my God tears and hugs and happiness. It was absolutely crazy," he said. "There's my baby and she is 48 years old."

In looking at Russell, James said he sees some physical features from his mom's side of the family.

"There is some James in there too, in the ears and around the mouth a bit. She has got the James' ears," he said, with a chuckle.

James has been proud to show off his newly-gained daughter, taking her downtown to introduce her to the many who know him.

He looks forward to making up for lost time, he said.

"Just to be here for her, whenever she needs me. Just to be her dad."

Russell is currently changing her last name to her father's. By spring she will officially be a James.

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All in the family - Squamish Chief

By Roy Freiman, Andrew Zwicker and Annette Quijano

We would never expect a bank to release our financial information any more than we would want the government to distribute our social security number, or a doctor to share our medical records. So why are we so compromising when it comes to the privacy of our most sensitive personal information: our genetic data.

Containing information as basic as your ethnicity to information comparably as intimate and unique as your fingerprint, genetic data can reveal a lot about who you are both on the surface and beneath it.

With the rise of direct-to-consumer genetic testing, millions of Americans began opting-in to services offered by private companies like 23andMe and Ancestry.com with hopes of discovering more about their heritage, connecting with lost relatives or identifying increased risk for disease like Alzheimers and breast cancer. However, as they swabbed their mouth or spit in a tube and mailed in their DNA for analysis, few paused to consider the implications for their data privacy.

As details of how your data could be used and where it could end up remained deep in the fine print of company policies, many remained unaware of what and how much they had consented to give away. A Deloitte survey from 2017 puts the number of Americans willing to consent to legal terms and service agreements without reading them at 91%. That fact, paired with limited industry transparency, has put a huge burden on consumers and made informed consent relatively elusive.

Today, it is quite likely if you submitted your DNA sample for testing, your genetic data sit anonymized in a database owned by a pharmaceutical company, academic research group or some other third-party entity. In 2018, 23andMe struck a $300 million deal to share its genetic database with pharmaceutical giant GlaxoSmithKline, and the company maintains partnerships with Procter & Gamble Beauty, Pfizer and others. Ancestry.com similarly shared data, collaborating with Googles Calico to study aging.

And, while in the aggregate this data presents enormous opportunity for new drug development and biomedical advancement you can never really be sure that your data wont be leveraged by bad actors for all the wrong reasons.

As a number of studies have pointed out, anonymized data are not fool proof. With enough effort, a significantly large chunk of data can be traced to the originating individual and their relatives. Running crime scene evidence against DNA profiles publicly uploaded to GEDmatch, police solved the four decades old Golden State Killer cold case. Therefore demonstrating that, despite efforts by companies to detach identifying information, the promise of anonymity and privacy is difficult to guarantee.

We are lacking a regulatory framework to address the privacy of genetic information. As strong federal policy in this specific area has yet to emerge, what has resulted is an industry that remains largely under-regulated and a public that is alarmingly uninformed.

New Jersey cant wait. We need better safeguards for genetic privacy now. Thats why weve charted our own course, sponsoring legislation (A-1170) that not only requires consent to use DNA samples and any resulting genetic information, but also makes DNA samples the exclusive property of the individual.

Stipulating ownership of genetic data is about securing New Jersey consumers right to choose. Empowered and informed decision-making can only arise when we are the ones in control of who can and cannot access or use our data. Under the measure, we assure the power always remains in the hands of the consumer.

With this legislation, New Jersey would join 24 other states that require informed consent to disclose genetic information. The state also would become sixth after Alaska, Colorado, Florida, Georgia, and Louisiana in explicitly defining genetic information as personal property, and second only to Alaska in extending personal property rights to DNA samples.

Protecting people and ensuring all industry competitors play by the same rules are fundamental strategies to securing greater genetic privacy for New Jersey residents. Laws requiring fair and responsible industry behavior are how we keep genetic data in the right hands - the individual to whom it belongs.

Assemblyman Roy Freiman and Assemblyman Andrew Zwicker represent the 16th Legislative District, and Assemblywoman Annette Quijano represents the 20th Legislative District. Together they are sponsors of genetic data privacy legislation (A1170) introduced on January 14, 2020.

The Star-Ledger/NJ.com encourages submissions of opinion. Bookmark NJ.com/Opinion. Follow us on Twitter @NJ_Opinion and on Facebook at NJ.com Opinion. Get the latest news updates right in your inbox.Subscribe to NJ.coms newsletters.

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Do you want anyone to have your most personal information? We dont think so, lawmakers say. - NJ.com

At-home DNA testing companies 23andMe and Ancestry each laid off about 100 employees over the past month, cutting around 14 and 6 percent of their workforces, respectively.

23andMe pointed to declining sales as the reasons for the layoffs, and Ancestry CEO Margo Georgiadis cited a slowdown in demand across the entire DNA category in a blog post. Interest in DNA testing skyrocketed through 2016, 2017, and 2018, with millions of people buying kits from direct-to-consumer companies. But in 2019, interest started to wane Illumina, which makes products used by these companies, said that the market was weak.

Thats probably because the market is saturated, and most people who would want to buy a DNA test kit already have, says David Mittelman, founder and CEO of the forensic genomics company Othram and former chief scientist at Family Tree DNA. That market is a certain size, and its being tapped out, he says.

It may also just be that all of the early adopters have bought and used DNA testing kits, says Shawn Baker, a genomics consultant and former scientist and manager at Illumina. They need to broaden out past the early adopters to everyone else, he says.

Compounding the problem, the service doesnt lend itself to repeat customers. You get tested once and youre done, Baker says. Theres also no real reason for users to return to the platform, except to see if any previously unknown or distant relatives have joined the service. But even then, the companies dont see additional revenue.

23andMe CEO Anne Wojcicki speculated that genetic privacy concerns could be one reason for the dip in sales. But Mittleman doesnt think that plays a big role. Im sure some people are worried about privacy, he says. I think people are burned by privacy more with Facebook than with genetic testing. Thats what they worry about.

23andMe and Ancestry did not respond to an emailed request for comment.

Ancestrys growth was also linked to their advertising spending they spent over $100 million on television ads in 2016, for example. Their growth was proportional to their spending, but thats since plateaued, Mittelman says. Acquiring more customers, who arent already inclined to be interested in existing products, would be expensive, he says.

But bringing in more customers for personal testing kits may no longer be the priority at these companies: instead, theyre turning their focus towards health. Ancestry says its shifting focus towards Ancestry Health, and plans to introduce new products that give customers information about their health risks. 23andMe plans to concentrate its research on a drug development arm, which has already proven lucrative: it started partnering with pharmaceutical companies in 2018, and in January, the company sold the rights to a drug it developed in-house.

The companies may want to keep pulling in customers to bolster their databases of genetic information, Baker says. Subscriber growth matters in terms of how good that database is.

But over the past few years, both companies have built up their databases of genetic data, and they may already be large enough to answer health care questions. These databases only need so much information before they can be useful to researchers and drug developers. If theyve reached that point, and it will take expensive marketing and advertising to pull in new customers, it might not be worth the investment to try and expand the pool, Mittelman says.

From the outside, that seems to be what the situation is, he says. You dont see 23andMe running sales trying to get people on board. Its not the priority.

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Layoffs at genetic testing companies reflect the changing market - The Verge

The DNA-testing fad is ending, and it's hitting one of the biggest players in the space hard.

On Wednesday, Ancestry CEO Margo Georgiadis wrote in a blog post that the company is laying off 6% of its 1,700-person workforce, or roughly 100 employees. In the post, Georgiadis cited the slowdown in the consumer genetics market as the reason, noting that the market is at an "inflection point," and most early adopters have already taken one of the tests.

The layoffs come just weeks after rival 23andMe also laid off 100 employees, representing about 14% of its staff.

"Over the last 18 months, we have seen a slowdown in consumer demand across the entire DNA category," Georgiadis wrote in the post. "Future growth will require a continued focus on building consumer trust and innovative new offerings that deliver even greater value to people."

CNBC reported on the Ancestry layoffs earlier on Wednesday.

Read more: The DNA-testing 'fad' is over, and one company just halted operations. The CEOs of Ancestry and 23andMe reveal how they're fighting back.

Over the past few years, genetic tests have grown in popularity. That's helped consumer genetics companies like 23andMe grow to 10 million users who've shipped off their spit with the hopes of learning more about their family trees, genetic traits, or even some health information.

Along the way, there have been beenflags raised about ethics and privacy, along with a slew of tough questions about identity and family.

Still, for years, it seemed like interest in genetic testing was only increasing. But in 2019, the companies started to run into a slowdown.

The first warning was raised by Illumina, the company that makes all the tech that's used to read info about your genes. On an earnings call in July, the company noted "softness" in the market.

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And in December, Veritas Genetics, a company that provides whole-genome sequencing for $600, said it had suspended its US operations, citing issues raising additional funding.

The layoffs at Ancestry come just months after the company unveiled its Ancestry Health tests, its first foray into the health market.

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Genealogy giant Ancestry lays off 6% of its employees - Business Insider - Business Insider

In determining risk of future disease, Ian Scott and colleagues argue there is little value in genetic testing of asymptomatic people with no family history of disease

Low cost genetic testing is increasingly being used by patients and the public to predict risk of developing disease in asymptomatic people in the hope that more precise risk stratification might facilitate targeted interventions for reducing risk

The proliferation of genetic variants might cause clinicians and citizens to misread their clinical relevance, potentially leading to overestimation of risk, overdiagnosis, and overtreatment

In appraising the value of genetic testing for clinical decision making, consideration must be given to validity, predictive accuracy, clinical utility, potential harms, cost effectiveness, and feasibility of use in routine care

Moving from traditional genetic testing for rare monogenic disorders within families to wider polygenic testing for common diseases in heterogeneous populations requires robust evidence of benefits and harms of this paradigm shift

Increasing numbers of patients and clinicians are undertaking low cost genetic testing in asymptomatic people to identify genetic variants that might predict risk of developing diseases. By early 2018, an estimated one in 25 citizens of the United States had undergone genetic testing, more than double the rate in the previous year.1 Although testing for risk of monogenic diseases such as cystic fibrosis in people with family histories is often appropriate, extending testing for polygenic diseases such as cardiovascular atherosclerosis to people with no family history is problematic and might cause harm.

Tests for approximately 75000 genetic variants are now commercially available from companies such as 23andMe, Navigenics, and deCODE Genetics, which can be ordered on the internet by consumers anywhere in the world and are increasingly advertised in lay media in the US, Canada, Australia, and various European countries.2 These tests aim to predict individual

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Promises and perils of using genetic tests to predict risk of disease - The BMJ

Germline testing for prostate cancer (PCA) is revolutionizing treatment, management, and risk assessment. Pathogenic mutations in multiple DNA repair genes, and particularly BRCA2 and others, are informing targeted therapy options in the metastatic and advanced disease setting, active surveillance discussions in the early-stage setting, and PCA early detection discussions.1 Furthermore, germline testing may identify a spectrum of cancer risks important to address for men and their male and female blood relatives. Many thousands of men with PCA now meet criteria for germline testing due to expanded genetic testing guidelines.2 This rising demand for germline testing has created a relative shortage of genetic counseling impacting timely access to testing that can significantly impact treatment or management plans for men. As such, oncologists and urologists are now increasingly ordering germline testing in their practices, necessitating assessment of practice patterns and responsible implementation of germline testing for PCA.

Our publication Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium (PCCTC)3 investigated practice patterns and barriers to germline testing among academic oncologists at PCCTC participating institutions. Key findings included that (62%) of oncologists at academic centers surveyed reported taking personal responsibility for some or all of the genetic education and testing of their patients with PCA. Furthermore, the majority of oncologists ordered comprehensive or large cancer panels, requiring that men understand considerations of larger panels such as testing of genes with a range of associated risk for PCA and some with limited guidance, higher rates of variants of uncertain significance with larger panels, potential to uncover multiple additional cancer risks beyond PCA, and the implications of test results for blood relatives.

A major practice need is a genetic education of oncologists and urologists in order to gain a working knowledge of germline testing, responsibilities of ordering providers, and familial impact.1The collection of family history is a key aspect of germline testing and recommendations due to the hereditary nature of germline testing. Providers need to consider optimal ways to collect family history in their practices and how best to collaborate with genetic counselors to address comprehensive recommendations for men and their families. Laboratory selection for testing is critical. Choosing a lab with long-standing experience with germline testing, full gene sequencing, and assessment, a variant reclassification program, and panel options is important to identify pathogenic mutations and have long-term variant updates.

Some patients may need to see a genetics professional upfront due to complex family history, psychosocial needs, and insurance constraints. While several insurance plans cover genetic testing for PCA, many still do not cover testing for men with PCA or require a visit with a genetic counselor to cover testing. Men also need to understand the potential financial implications of testing, which is critical for men who are long-term PCA survivors or men who are otherwise healthy. The Genetic Information Nondiscrimination Act (GINA) of 2008 provides protections from genetic discrimination regarding health insurance and employment (except for small businesses with fewer than 15 employees). However, the GINA law does not cover long-term care, disability, or life insurance plans.

Finally, germline testing has implications regarding additional cancer risks for men and their families with potential management implications. For example, men with germline BRCA2 mutations may be at increased risk not only for PCA, but also pancreatic cancer, male breast cancer, and melanoma. Therefore, men with BRCA2 mutations would not only need PCA risk or treatment addressed, but also screening for male breast cancer with clinical breast exams and pancreatic cancer screening if there is also a family history of pancreatic cancer.Female relatives who inherit BRCA2 mutations are at increased risk for cancers of the breast, ovary, pancreas, and melanoma with significant management and risk reduction decisions to consider.4 Thus, oncology and urology practices who undertake ordering germline testing need to have mechanisms in place either within their practices or in collaboration with genetic counselors to address these and many other genetically-related issues.

New initiatives are emerging to enhance the field of germline testing for PCA. Technology-based tools may be helpful in facilitating family history collection, genetic education, and identification of men with PCA for germline testing. Dr. Giri is leading a team of investigators to develop a mobile-friendly tool for providers regarding germline PCA testing. This tool will undergo user testing as part of the Technology-enhanced AcceleRation of Germline Evaluation for Therapy The TARGET study, a nationally-funded study from the Prostate Cancer Foundation (2019 Prostate Cancer Foundation VAlor Challenge Award - Principal Investigator: Giri and Co-Principal Investigator: Loeb). Similarly, Dr. Paller and Dr. Cheng are leading the PROMISE registry: A Prostate Cancer Registry of Outcomes and Germline Mutations for Improved Survival and Treatment Effectiveness with the help of the PCCTC which will focus on identification, recruitment, and treatment response of germline carriers and selected variants of uncertain significance in genes of interest.5

The registry will help provide education about genes and match patients with the proper treatment or trial based on their mutation. Dr. Giri is leading the upcoming Prostate Cancer Genetic Risk, Experience, and Support Study: PROGRESS Registry. This national registry will collect information from men who have had germline testing for PCA and assess their experience with testing from various clinical settings to rapidly inform responsible PCA germline testing. Furthermore, the 2019 Philadelphia Prostate Cancer Consensus Conference addressed implementation of germline testing for PCA, focused on topics such as optimal testing strategies, testing indications, and alternate genetic evaluation models to meet the needs of men with PCA and their families regarding germline testing.6 Results from the conference will be forthcoming in publication.

Written by:Veda N. Giri, MD, Associate Professor, Director of Jefferson Clinical Cancer Genetics Service, Jefferson University Physician, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania; Heather H. Cheng, MD, PhD, Director of the Prostate Cancer Genetics Clinic, Seattle Cancer Care Alliance, Associate Professor, Division of Medical Oncology, University of Washington School of Medicine, Associate Member, Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington; Channing J. Paller, MD, Medical Oncologist, Sibley Memorial Hospital, Washington D.C., USA, Associate Professor of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland

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Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate...

My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S.

LEIDEN, Netherlands and CAMBRIDGE, Mass, Feb. 06, 2020 (GLOBE NEWSWIRE) -- ProQR Therapeutics N.V. (Nasdaq:PRQR), a company dedicated to changing lives through the creation of transformative RNA medicines for severe genetic rare diseases, announced today its participation in the Foundation Fighting Blindness My Retina Tracker Program, a collaborative, open access program run by Blueprint Genetics and InformedDNA providing no-cost genetic testing and genetic counseling for individuals with a clinical diagnosis of an inherited retinal disease (IRD) such as Lebers congenital amaurosis (LCA) and Usher syndrome, amongst others.

Many people diagnosed with an IRD have not received genetic testing. In absence of knowing the genetic mutation, eligibility for clinical trials or available treatments is more difficult to determine. Genetic testing in the My Retina Tracker Program is performed by Blueprint Genetics and tests a broad panel of known mutations causing IRDs, including mutations causing LCA10, Usher syndrome, and retinitis pigmentosa for which ProQR is developing medicines. As a partner of the program ProQR has access to expert physicians and de-identified data from specific participating IRD patients, which would facilitate efforts to advance new treatments for IRDs.

Daniel de Boer, Chief Executive Officer of ProQR, said, We are honored to be the first industry partner for the My Retina Tracker Program as we strive to be at the forefront of the IRD field with a patient-focused approach. Genetic testing is crucial to receiving an accurate diagnosis and to then move forward with the best care.

The My Retina Tracker Program is a key initiative that supports the development of treatments and cures for inherited retinal diseases and we are delighted to be expanding our partnership with ProQR, says Brian Mansfield, Executive Vice President Research, Interim Chief Scientific Officer of the Foundation Fighting Blindness. As part of the program, the My Retina Tracker Registry has over 15,000 patients registered, which is the most comprehensive international patient database with individuals affected with an IRD.

With over 7,000 patients tested to date, and hundreds more tested monthly, this program provides IRD patients with the highest-quality test available in the market, while setting a high standard for patient data privacy practices. We are happy to have ProQR join our efforts to provide IRD patients with easier access to genetic diagnostics, improve access to clinical trials and facilitate therapeutic development in IRDs associated with CEP290, RHO and USH2A genes. The My Retina Tracker Program is currently the most effective pathway for Biopharma to enhance patient identification, said Tero-Pekka Alastalo, Executive Director, Medical at Blueprint Genetics.

About My Retina Tracker Program

The My Retina Tracker Program offers an open access, no-cost genetic testing and genetic counseling for individuals living in the United States with a clinical diagnosis of IRDs. The program offers people with an IRD access to the highest quality genetic testing and genetic counseling. InformedDNA provides genetic counseling by certified genetic counselors with IRDs expertise. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry. This gives individuals the opportunity to contribute to focus groups, patient journey analyses, research studies, and the opportunity to be enrolled in relevant natural history studies and clinical trials.

The program provides patients with a 285 gene panel targeting relevant genes associated with IRDs. Unique features of the panel include full RPGR coverage, high resolution copy number variant detection and comprehensive coverage of IRDs related non-coding variants. Customized detection of non-coding variants is critical for diagnosis of IRDs, especially with genes such as USH2A, CEP290 and RHO. The current panel will include mitochondrial DNA testing to further enhance the clinical utility and quality of the test.

For more information on the My Retina Tracker Program, please visit https://www.fightingblindness.org/open-access-genetic-testing-program

About ProQR Therapeutics

ProQR Therapeutics is dedicated to changing lives through the creation of transformative RNA medicines for the treatment of severe genetic rare diseases such as Lebers congenital amaurosis 10, Usher syndrome and autosomal dominant retinitis pigmentosa. Based on the unique proprietary RNA repair platform technologies, they are growing their pipeline with patients and their loved ones in mind. http://www.proqr.com

About the Foundation Fighting Blindness

Established in 1971, the Foundation Fighting Blindness is the worlds leading private funding source for retinal degenerative disease research. The Foundation has raised more than $760 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of retinal degenerative diseases including: retinitis pigmentosa, age-related macular degeneration, Usher syndrome, and Stargardts disease. Visit FightingBlindness.org for more information.

About Blueprint Genetics

Blueprint Genetics is one of the fastest growing genetic diagnostics businesses globally in the field of clinical genetic testing of rare inherited diseases. The company is based in Helsinki and Seattle, with a customer base spanning over 70 countries. http://www.blueprintgenetics.com.

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ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker Program for People Living -...

Like most medical students, I struggled to memorize the Krebs cycle, the complex energy-producing process that takes place in the body's mitochondria. Rote learning of Sir Hans Krebs' eponymous cascade of reactions persists and has been cited as a waste of time in modern medical education. However, it looks like that specialized knowledge about mitochondrial structure and function may finally come in handy in the clinic.

Advances in genetics have contributed to improved diagnostic accuracy of a diverse spectrum of mitochondrial disorders. Respiratory chain, nuclear gene, and mitochondrial proteome mutations can lead to multisystem or organ-specific dysfunction.

A new potential treatment for mitochondrial disorders, elamipretide, has received orphan drug designation from the US Food and Drug Administration (FDA) and is in clinical trials sponsored by Stealth Biotherapeutics. [Dr Wilner has consulted for Stealth Biotherapeutics.] Recently I had the opportunity to interview Hilary Vernon, MD, PhD, associate professor of genetic medicine at Johns Hopkins University, Baltimore, Maryland, and an expert on mitochondrial disorders. Dr Vernon discussed her research on elamipretide as a treatment for Barth syndrome, a rare form of mitochondrial disease.

I am the director of the Mitochondrial Medicine Center at Johns Hopkins Hospital. I work with individuals from infancy through adulthood who have mitochondrial conditions. I became interested in this particular area when I was early in my pediatrics/genetics residency at Johns Hopkins and saw the toll that mitochondrial disorders took on patients' lives and the limited effective therapies. At that point, I decided to focus on patient care and research in this area.

Mitochondrial disorders can be difficult to recognize because of their inherent multisystem nature and variable presentations (even between affected members of the same family). However, there are several considerations that should raise a clinician's suspicion for a mitochondrial condition. Ascertaining a family history of disease inheritance through the maternal line can raise the suspicion for a mitochondrial DNA disorder. Identification of a combination of medical issues in different organ systems that are seemingly unrelated in an individual (ie, optic atrophy and muscle weakness or diabetes and hearing loss) can also raise suspicion for a mitochondrial condition.

Due to the nature of mitochondria as the major energy producers of the cells, high-energy-requiring tissues such as the brain and the muscles are often affected. Perhaps the best known mitochondrial diseases to neurologists are MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke) as well as MERFF (myoclonic epilepsy with ragged red fibers). There is a nice body of literature on the effects of arginine and citrulline in modifying stroke-like episodes in MELAS, and this is a therapy that is in current practice.

Mitochondria are complex organelles whose structure and function are encoded in hundreds of genes originating from both the nucleus of the cell and the mitochondria themselves. Mitochondria have many key roles in cellular function, including energy production through the respiratory chain, coordination of apoptosis, nitrogen metabolism, fatty acid oxidation, and much more.

Various cofactors and vitamins can be employed to improve mitochondrial function for different reasons. For example, if a specific enzyme is dysfunctional, supplying the cofactor for that enzyme may improve its function (ie, pyruvate dehydrogenase and thiamine). Antioxidants have also been considered to help reduce the oxidant load that could potentially cause ongoing damage to the mitochondrial membrane resulting from respiratory chain dysfunction (ie, coenzyme Q-10).

It is important to remember that the highest number of individual mitochondrial disorders result from mutations in genes located in the nuclear DNA. For example, the TAZ gene that is abnormal in Barth syndrome is a nuclear gene located on the X chromosome. These genes are amenable to the "regular" approaches to gene therapy.

Targeting mitochondrial DNA for gene therapy requires a different set of approaches because the gene delivery has to overcome the barrier of the mitochondrial membranes. However, research is ongoing to overcome these obstacles.

Barth syndrome is a very rare genetic X-linked disorder that usually only affects males. The genetic defect leads to an abnormal composition of cardiolipin on the inner mitochondrial membrane. Cardiolipin is an important phospholipid involved in many mitochondrial functions, including organization of inner mitochondrial membrane cristae, involvement in apoptosis, and organization of the respiratory chain (which is responsible for producing ATP via the process of oxidative phosphorylation), and many of these functions are abnormal in Barth syndrome. Individuals with Barth syndrome typically have early-onset cardiomyopathy, myopathy, intermittent neutropenia, fatigue, poor early growth, among other health concerns.

Early in my post-residency career, I followed several patients with Barth syndrome and was quickly welcomed into the Barth syndrome community by the families and the Barth Syndrome Foundation. From there, I founded the only interdisciplinary Barth syndrome clinic in the US and began to focus a significant amount of my clinical and laboratory research on this condition.

Most commonly, these individuals come to medical attention because of cardiomyopathy, but a minority of patients do come to attention due to repeated infections and neutropenia. Patients were identified for study participation through the Barth Syndrome Foundation or because they were already patients of my study team.

All participants were known to have Barth syndrome prior to study entry, and all had confirmatory genetic testing showing a pathogenic mutation in the TAZ gene.

By binding to cardiolipin in the inner mitochondrial membrane, elamipretide is believed to stabilize cristae architecture and electron transport chain structure during oxidative stress. I thought it would be great if this could help to stabilize the abnormal cardiolipin components on the inner mitochondrial membrane in Barth syndrome.

We observed improvements in several areas across the study population in the open-label extension part of the study. This includes a significant improvement in exercise performance (as measured by the 6-minute walk test, with an average improvement of 95.9 meters at 36 weeks) and a significant improvement in muscle strength. We also observed a potential improvement in cardiac stroke volume. Most of the adverse events were local injection-site reactions and were mild to moderate in nature.

The TAZPOWER trial has an ongoing open-label extension with the same endpoints as the placebo-controlled portion evaluated on an ongoing basis. In addition, in my laboratory, we are using induced pluripotent stem cells to learn more about how cardiolipin abnormalities affect different cell types in an effort to understand the tissue specificity of disease. This will help us to understand whether different aspects of Barth syndrome would necessitate individual management or clinical monitoring strategies.

Mitochondrial inner membrane dysfunction is increasingly recognized as a major aspect of the pathology of a wide range of mitochondrial conditions. Therefore, based on the role of stabilizing mitochondrial membrane components, elamipretide has a potential role in many disorders of the mitochondria.

Yes, this is what we would call "secondary mitochondrial dysfunction" (meant to differentiate from "primary mitochondrial disease," which is caused by defects in genes that encode for mitochondrial structure and function). Approaches intended to protect the mitochondria from further damage, such as antioxidants or strategies that can bypass the mitochondria for ATP production, could overlap as treatment for primary mitochondrial disease and secondary mitochondrial dysfunction.

This is something that is much discussed as a newer consideration for families who are affected by disorders of the mitochondrial DNA, but not something I have experience with firsthand.

Yes. The United Mitochondrial Disease Foundation and the Mitochondrial Medicine Society collaborated to develop the Mito Care Network, with 19 sites identified as Mitochondrial Medicine Centers across the US.

Andrew Wilner is an associate professor of neurology at the University of Tennessee Health Science Center in Memphis, a health journalist, and an avid SCUBA diver. His latest book is The Locum Life: A Physician's Guide to Locum Tenens.

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Maybe Memorizing the Krebs Cycle Was Worthwhile After All - Medscape

As of February 7 at 13:00 UTC, Chinas National Health and Health Commission had received a total of 31,261 confirmed cases of the 2019 Novel Coronavirus (2019-nCov) outbreak and 26,359 suspected cases, which was a leap of 4,833 from the day before. As of February 8 at 03:00 UTC the 2019-nCoV had killed 725 people, all but one of them in China.

Like SARS, HIV, Ebola, and influenza, the 2019-nCoV is an RNA virus. Its single-strand structure makes it more susceptible to mutation and more difficult to develop vaccines for. In mid-January, Chinese scientists isolated the first 2019-nCoV strain and published its genetic sequence to aid in independent detection of the virus. The World Health Organization categorizes 2019-nCoV risk as Very High in China and High in the rest of the world. Globally, there are now 15 laboratories providing reference testing for the virus.

The crucial step now is to develop matching vaccines and drugs to uproot its existence, and Chinas big tech companies have stepped up to help.

On January 29th Alibaba Cloud made its AI computing capabilities free to global public research institutions to help expedite virus gene sequencing, new drug R&D, and protein screenings. The cloud arm of Chinas e-commerce giant has already broken the world record for high-precision whole-genome sequencing doing in 15 minutes what used to take scientists 120 hours.

Beijing-based Global Health Drug Discovery Institute (GHDDI) and Alibaba Cloud also jointly launched a big data platform archiving historical drug R&D for coronaviruses such as SARS and MERS to make relevant preclinical and clinical information available and provide a platform to study new virus variants.

Coronavirus RNA sequences are very spatially fluid. These structures can determine the function of RNA, which in turn can help in the design of molecular drugs and molecular detectors. Using classic algorithms to recognize the RNA sequence may be prohibitively time-consuming, as the coronavirus genome is one of the longest among all RNA viruses, reaching 30,000 Bases.

Deep learning algorithms are much more adept at such large-scale parallel repetitive calculations: the Baidu linear time LinearFold algorithm takes 27 seconds to solve the RNA secondary structure of the 2019-nCoV 120 times faster than the top classic algorithms. On January 30, Baidu Research Institute opened LinearFold to global genetic testing institutions, epidemic prevention centres and scientific research centres for free. It is hoped this can continue to accelerate research and prediction on the 2019-nCoV RNA structure.

On February 8, Baidu opened its Smart Cloud Tiangong IoT platform to epidemic prevention-related projects and national epidemic prevention enterprises as part of the companys AIOT Epidemic Shield Program,

Most Chinese hospitals are presently using the common nucleic acid detection approach to confirm their diagnosis of suspected 2019-nCoV cases. This manual method however can only detect parts of virus genes, and loses accuracy when facing mutations. From a patients perspective, nucleic acid detection also means waiting many hours for diagnosis confirmation, and potentially being quarantined even longer in the case of local or regional outbreaks.

All of the Alibaba DAMO Academy AI algorithms employ a whole genome detection approach, whereby the whole genome sequences of a virus are considered. This method can effectively prevent errors such as false negatives caused by virus mutation, and reduce the time required for genetic analysis of suspected cases to about 30 minutes.

The technology is now available on an automated genome detection and analysis platform jointly launched by the Zhejiang Province Centers for Disease Control and Prevention, Alibaba Medical AI team, and Jieyi Biotechnology Company.

Source: Synced China

Localization: Meghan Han | Editor: Michael Sarazen

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Battling the Coronavirus: Alibaba and Baidu AI Accelerate Vaccine and Drug R&D - Synced

Genetic cancer testing is a whole new world for cancer survivors, newly diagnosed patients with cancer and their family members.

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.

It still rattles my cage to think that my initially diagnosed generic (not genetic) breast cancer almost ten years ago was recently determined to have been caused by the PALB2 genetic mutation found in my redone genetic tests a couple of years back. Thank goodness my oncologist urged me to test for the newly discovered genetic mutations years out from my breast cancer treatments!

With a cancer diagnosis, most of us want two things to catch it early and to have it be a common kind of cancer where everyone agrees on the best treatment. What happens when we start to learn early on what is likely to kill us? Genetic cancer testing has a psychological impact as well as possible monitoring and/or treatment consequences. What does all of that mean as a patient?

Internal Stress

It is scary to discover you are one of the "special" fish in the lake. If you have not yet had cancer, does it mean extra frequent monitoring, special tests, or even prophylactic surgery? Does knowing you have a genetic cancer mutation increase your fear and anxiety? Even removing my breasts does not make me immune to metastatic breast cancer or a lump developing in an area near where my breasts were.

Social Stress

Who are you going to tell for support? Who are you not going to tell for fear of employment or insurance consequences? Plus, how do you tell other family members who may be at risk because of your genetic findings? No one really wishes other people to have the specter of cancer looming over them too. Friends may not understand prophylactic surgery treatment choices. Family members will have to then make their own testing and treatment choices.

Personal Decisions

Decide. How much do you want to know? What will you do if something is found? What will you do if something is not found? I remind myself that each of us can only do our best at any given moment in time. We do not know the long-term impact of PALB2 yet. Data across five to ten years is not available yet for some of these more recent genetic cancer mutations. Looking regretfully back or worrying forward are pretty darn futile.

Ongoing Concern

This part is not fun, but it is necessary. Put the appointments or appointment reminders into your calendar and try to get on with living the rest of your life. That is my advice. It is easier said than done. Genetic testing is exciting, new, and preventative, and it does create ongoing stress, decisions and concerns.

It was the best of times, it was the worst of times, it was the age of wisdom, it was the age of foolishness, it was the epoch of belief, it was the epoch of incredulity, it was the season of Light, it was the season of Darkness - from A Tale of Two Cities by Charles Dickens. Does it sound like the world of genetic cancer testing today? You bet. We each may face some difficult yet hopeful choices. Hang in there and let's talk.

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The Good, The Bad, And The Unknown Of Genetic Testing - Curetoday.com

Excitement in the consumer genetic testing market continues to show signs of slowing down.

In the past two weeks layoffs have hit two of the biggest consumer genetic testing services 23andme and Ancestry with the latter announcing that it would slash its staff by 6% earlier today, in a blog post.

CNBC first reported the news.

In her blogpost announcing the layoffs, Ancestry chief executive Margo Georgiadis wrote:

over the last 18 months, we have seen a slowdown in consumer demand across the entire DNA category. The DNA market is at an inflection point now that most early adopters have entered the category. Future growth will require a continued focus on building consumer trust and innovative new offerings that deliver even greater value to people. Ancestry is well positioned to lead that innovation to inspire additional discoveries in both Family History and Health.

Today we made targeted changes to better position our business to these marketplace realities. These are difficult decisions and impact 6 percent of our workforce. Any changes that affect our people are made with the utmost care. Weve done so in service to sharpening our focus and investment on our core Family History business and the long-term opportunity with AncestryHealth.

The move from Ancestry follows job cuts at 23andMe in late January, which saw 100 staffers lose their jobs (or roughly 14% of its workforce.

The genetic testing company Illumina has been warning of softness in the direct to consumer genetic testing market, as Business Insider reported last August.

We have previously based our DTC expectations on customer forecasts, but given unanticipated market softness, we are taking an even more cautious view of the opportunity in the near-term, the companys chief executive Francis deSouza said in a second quarter earnings call.

Consumers seem to be waking up to the privacy concerns over how genetic tests can be used.

You can cancel your credit card. You cant change your DNA, Matt Mitchell, the director of digital safety and privacy for the advocacy organization Tactical Tech, told Business Insider earlier in the year.

And privacy laws in the U.S. have not caught up with the reality of how DNA testing is being used (and could potentially be abused), according to privacy experts and legal scholars.

In the US we have taken to protecting genetic information separately rather than using more general privacy laws, and most of the people whove looked at it have concluded thats a really bad idea, Mark Rothstein, a law professor at Brandeis and the director of the University of Louisvilles Institute for Bioethics, Health Policy and Law, told Wired in May.

The investigation into the Golden State Killer and the eventual arrest of Joseph James DeAngelo thanks to DNA evidence collected from an open source genealogy site called GEDMatch likely helped focus consumers thinking on the issue.

In that case a relative of DeAngelos had uploaded their information onto the site and investigators found a close match with DNA at the crime scene. That information was then correlated with other details to eventually center on DeAngelo as a suspect in the crimes.

While consumer genetic testing services may be struggling, investors still see increasing promise in clinical genetics testing, with companies like the publicly traded InVitae seeing its share price rally and the privately held company, Color, raising roughly $75 million in new capital from investors led by T. Rowe Price.

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Ancestry lays off 6% of staff as consumer genetic testing market continues to decline - TechCrunch

BETHESDA, Md., Feb. 5, 2020 /PRNewswire/ --Prenatal genetic screening is a complex and rapidly evolving field of medicine.In an effort to help promote consensus recommendations and strive for consistency among various medical societies that issue recommendations and guidelines in the area of prenatal genetic testing, six national organizations have partnered to create the Reproductive Genetics Technology Consortium. (http://rgtc.perinatalquality.org)

Member organizations include the American College of Medical Genetics and Genomics; American Society for Reproductive Medicine; International Society of Prenatal Diagnosis; National Society of Genetic Counselors; Perinatal Quality Foundation; and Society for Maternal-Fetal Medicine. Representatives from each organization will meet regularly and as needed to facilitate group discussion and/or consensus.

The new Consortium aims to facilitate communication between professional organizations in their development of practice guidelines and to provide a forum for different societies to discuss appropriate utilization of reproductive genetic testing. It will also provide a forum through which commercial laboratories or other entities developing new technologies can proactively communicate to obtain input and guidance regarding new testing and will provide consensus expert opinions about the clinical utility and application of emerging genetic tests.

"Each member of the new Consortium has a goal of optimizing the health of women and infants," said SMFM representative, Mary Norton, MD. "Bringing our organizations together will establish an opportunity for dialogue between stakeholders and provide a stronger voice on these important issues."

ACMG President Anthony R. Gregg, MD, MBA, FACOG, FACMG said, "ACMG is confident that collaborations among the RGTC member organizations will ensure patients receive high quality care as innovative genetic technologies move from the laboratory to the bedside."

To contact the Consortium, contact Jean Spitz, MPH, CAE, RDMS at jspitz@perinatalquality.org.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical and laboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

Raye Alford, PhDralford@acmg.net

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Leading Experts in Genetics and Pregnancy Announce the Creation of a New Consortium - Yahoo Finance

MADISON, WI Wisconsin Gov. Tony Evers signed 16 bills into law. The governor acted on the following bills:

Act 85: School Report Cards

Requires the Department of Public Instruction to include in the annual school report card the percentage of students participating in music, dance, drama, and visual arts for each high school and school district, and the statewide percentage of participation.

Act 86: Dyslexia Guide For Educators

Requires the Department of Public Instruction to establish an advisory committee to develop a guidebook related to dyslexia and related conditions for parents, guardians, teachers, and school administrators.

Act 87: Nonlethal Weapons

Allows private detectives, investigators, or private security personnel licensed to carry firearms by the Department of Safety and Professional Services to carry electric weapons while on duty to provide a nonlethal alternative.

Act 88: Medicaid Reimbursement

Ensures reimbursement for clinical consultations with a parent on behalf of a student under the age of 21 in the Medicaid program.

Act 89: Driver School Offices

Prohibits any Department of Transportation requirements for driver school offices located in residences from applying if students and the public have no access to the office.

Act 90: Medical and End-Of-Life Considerations

Allows a physician and a physician assistant or nurse practitioner to make findings of incapacity for a health care power of attorney to become effective and for admission to a hospice; andAllows a physician assistant or an advanced practice registered nurse to certify that a patient is afflicted with a terminal condition or is in a persistent vegetative state and would allow an attending physician assistant or an attending advanced practice registered nurse to issue do-not-resuscitate orders.

Act 91: Historic Churches

Permits a church over 100 years old to install a stairway chair lift to assist individuals and improve accessibility for congregational activities.

Act 92: Special Needs Definition

Expands the definition of children with special needs who are eligible for adoption assistance to include a child who is seven years or older, if age is the only factor in determining eligibility, or a child who is a member of a sibling group of two or more children that must be placed together; and Allows the Department of Children and Families to submit a request to the Joint Committee on Finance to transfer money from another appropriation to fund the increased assistance payments.

Act 93: Water Infrastructure Projects

Requires the Department of Natural Resources to direct up to $5.2 million in funds from the Stewardship 2000 Program to fund high-priority water infrastructure projects in state parks; andIncreases the amount appropriated to the department for state park operations by $300,000 SEG in fiscal year 2019-20.

Act 94: Certifications For Retired Professionals

Allows retired architects, landscape architects, professional engineers, designers and professional land surveyor credential holders to maintain their title by applying to renew the credential in a retired status classification and paying half of the credential application renewal fee.

Act 95: Genetic Testing in Paternity Actions

Creates a new presumption of paternity through genetic testing and generally requires the court in a paternity action to order genetic testing.

Act 96: Open Meeting Notices

Allows school board members to provide notice of special meetings by e-mail, text message, phone call, in-person, or by mail.

Act 97: Assault Cases

Makes battery to a nurse or health care professional who is working in a hospital a Class H felony.

Act 98: Hunting Weapons

Allows bows and crossbows to be possessed in or on a stationary vehicle, all-terrain vehicle or utility terrain vehicle.

Act 99: Election Rules

Creates election and recount procedures for lake protection and rehabilitation district board elections.

Act 100: Physical Therapy Licensure Compact

Ratifies and enters Wisconsin into the Physical Therapy Licensure Compact.

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Wisconsin Governor Signs 16 Bills Into Law: How They Affect You - Milwaukee, WI Patch

Industrial hempcannabis with a low level of THC, the compound that provides marijuanas highis legal nationwide, thanks to the 2018 Farm Bill. But due to a long period of prohibition, scientists, farmers, and consumers know very little about the plant. One of the biggest mysteries, one rife with anecdotal evidence and theories, was what causes a hemp plant to go hot, or have illegally high levels of THC. A new study from Cornell University researchers finds that the conventional wisdom is way off.

Industrial hemp has boatloads of uses; Senator Mitch McConnell used a hemp pen to sign the 2018 Farm Bill legalizing hemp, for example. But whats looking like the big cash reason for growing hemp, at least right now, is cannabidiol, or CBD. CBD is a compound in the hemp plant, and while it is very poorly understood, the CBD industry has become massive, with claimed uses ranging from anti-anxiety to cancer prevention. (The FDA has had to stop companies from claiming most of these effects, as none of them are proven.)

Currently, the law states that industrial hemp is legal if it tests with a THC level of less than 0.3 percent. Growers do their best to breed low-THC varieties of hemp, but sometimes plants still go hot, exhibiting higher THC percentages than that, and those plants cannot be sold and must be disposed of. That can be expensive, depending on how often it happens, and it can also be concerning for consumers who want to make sure they wont get accidentally stoned. So its in everyones best interest to figure out exactly what causes a hemp plant to go hot.

There had been some conventional wisdom that geography and environmentterroir, reallymight play a role in a hemp plant unexpectedly going hot. Different temperatures, amounts of water, soil makeup, the location it was grown in, all of that stuff was believed to be a possible cause of a hemp plant going hot.

New research from Cornell, though, says thats not the case. Our evidence from this paper is that fields go hot because of genetics, not because of environmental conditions, says Larry Smart, the lead author of the study, in a press release.

The study involved testing two different hemp fields, comparing genetic makeup and environmental differences. The researchers found that environment conditions had no significant effect on THC levels, but did discover that the hemp plants had different genes that seem to trigger whether theyll produce THC, CBD, or both.

This could be incredibly valuable; the researchers note that genetic testing of hemp plants can be done while the plants are still seedlings, dramatically reducing the penalty for discovering high THC levels in a mature plant. Their research indicates that THC and CBD are all based on genetics, and could provide a pathway for much easier, cheaper, and more conclusive testing. And thats good news for hemp farmers, who are finding the hemp industry to be a bit less lucrative than expected.

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What Makes Industrial Hemp Spike to Illegal Levels of THC? - Modern Farmer

When Anna Lambert and Joey Lapointe decided to have a baby, they knew any child they conceived had a 50-50 chance of inheriting a debilitating genetic disease.

Lapointe carries the mutation for Huntington's disease, passed on by his father.

Huntington's is a hereditary and fatal neurological illness which typically sets in in middle age, destroying a person's mental and physical abilities. Early symptoms include involuntary movements, cognitive decline and mood disturbances.

There is no cure.

To rule out the possibility of bearing a child with the mutation, Lambert had prenatal testing around the 12-week mark of her pregnancy.

The result was positive, but the couple was encouraged by genetic markers that showed the fetus could be carrying the mutation for late-onset Huntington's, which typically develops after the age of 60.

They chose not to terminate the pregnancy. However, last summer, the baby was stillborn.

Her voice catching, Lambert described the stillbirth, 24 weeks into her pregnancy, as "traumatic." She and her husband only had a week to grieve before they both had to return to work.

"It's something that no one should have to go through," Lapointe said.

Still wanting a child but hoping to avoid reliving such a painful experience, the couple discussed their options. One of them is in-vitro fertilization (IVF).

Embryos conceived through IVF can be screened for genetic mutations such as Huntington's, and only disease-free embryos are then transferred to the mother's uterus. That procedure is known as pre-implantation genetic diagnosis.

However, since cost overruns led the former Liberal government to cut public funding of IVF in 2015, there's no financial assistance for couples in Lambert and Lapointe's situation.

To cover it themselves would be a huge financial hit: a single cycle of IVF, plus the genetic testing of the embryos, could set them back by as much as $15,000.

Although Quebec now offers a one-time tax credit based on household income to help cover fertility treatments, the couple doesn't qualify.

The rules state that neither potential parent can have children already. Lapointe has two daughters from a previous marriage.

Lambert said she's always wanted to be a parent and doesn't think she should be penalized because her partner has children.

She calls the exclusions to the tax credit unfair and short-sighted. In the long run, paying for the treatment could save the health care system tens of thousands of dollars.

"It might only take one round in order to get a child that's Huntington's disease-free," said Lambert. "We would never have to worry about the disease being passed on again."

When IVF was publicly funded in Quebec between 2010 and 2015, the McGill University Health Centre's reproductive centre performed thousands of IVF cycles.

Dr. William Buckett, the centre's director, said of those, only 60 or 70 cases a year involved testing embryos for hereditary genetic diseases.

"It really is a drop in the ocean," he said.

The low volume of cases is also reflected in statistics from countries such as the United Kingdom, which covers up to three full IVF cycles for parents who risk passing on Huntington's disease, said Buckett.

A round of IVF plus pre-implantation genetic testing is much less costly than caring for someone with Huntington's disease or even a late termination of a pregnancy and the psychological costs associated with that, he said.

"Reducing the amount of suffering by offering it is, I think, far and away more cost-effective," said Buckett.

Buckett said if the government is concerned about costs spiralling out of control, it could follow the example set by the U.K., which has a regulated central agency which approves which conditions it will cover.

During the 2018 election campaign, Coalition Avenir Qubec promised to reinstate a public IVF program and offer at least one cycle at no cost to would-be parents by 2020.

This week, a spokesperson for the Health Ministry told CBC the program's criteria arestill being developed, and it's too early to say what will be covered.

The Huntington Society of Qubec said it plans to send a letter to Health Minister Danielle McCann, outlining the advantages of covering the procedure for people who suffer from genetic disorders.

Danile Bouret, a social worker at the society, said people who have Huntington's typically develop symptoms between the ages of 30 and 50 what should be the most productive years of their lives. Eventually, an afflicted person is not able to work, drive or look after themselves.

"Every part of that person is affected," said Bouret.

Once the symptoms set in, most people die within 15 to 20 years.

Bouret, too, believes that in the long term, it's cheaper for the government to help ensure a child isn't born with Huntington's in the first place.

Having IVF funding available would give potential parents peace of mind.

"It would be taking a very difficult load off of their shoulders because knowing you might have given that faulty gene to your child is devastating," said Bouret.

The testing also has a lasting benefit. If a child doesn't have the faulty gene, it can't pass on Huntington's to future offspring.

Removing such a devastating disease from their family tree is important to Lambert and Lapointe.

Lapointe's father's Huntington's disease has advanced to the stage where he is bedridden and living in a long-term care institution.

Lambert knows at some point, her husband will also develop symptoms. If they can help it, they don't want a child of theirs to ever have to go through that, she said.

"They don't need to watch their dad going through that decline, then thinking, 'That could be me.'"

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Quebec couple pleads for IVF funding to help them conceive a baby without Huntington's disease - CBC.ca

SUDBURY -- Health Sciences North in Sudbury is hoping to keep its littlest patients closer to home with a newly acquired chloridometer.

The instrument is used in the HSN laboratories to diagnose children, as young as newborns, with cystic fibrosis by measuring the amount of the chloride in their sweat.

Children with the genetic disorder can have elevated amounts of chloride in their sweat.

Dr. Vijay Kumar has been a pediatrician in the city for 35 years and says this new equipment has been on the NEO Kids & Family Program wish list for some time.

"We currently do genetic testing for newborns, but the sweat chloride test helps to confirm the diagnosis," said Dr. Kumar.

The pediatrician adds that now that testing is available locally, patients no longer have to travel to Toronto or Ottawa.

Previously when patients were referred to southern Ontario, they often would continue their treatment with the specialist who confirmed their diagnosis.

The HSN lab is also able to do the testing for samples provided by other hospitals in the northeast including North Bay, Timmins, Kapuskasing and Matheson.

The chloridometer was purchased by the NEO Kids Foundation through funds raised in the community.

View post:
It's all in the sweat: new equipment helps detect cystic fibrosis - CTV News

If a body has trouble detoxing itself, its likely there are MTHFR defects, some doctors might say.

Yes, we know you might be scratching your head after reading that sentence above, asking yourself, What the heck is MTHFR?

The short answer is, MTHFR is something thats vital to help detox the body and produce good health.

As for the long answer, read on for a synopsis on why MTHFR is so important.

What is MTHFR and what does it stand for?

MTHFR is an abbreviation for methylenetetrahydrofolate reductase, an enzyme that breaks down the amino acids homocysteine and folate in the body. It is vital in the biochemical process called methylation.

Why is MTHFR so important?

Genes can become active or inactive, according to an article on drhardick.com, and MTHFR helps enhance methylation, which helps activate genes and enzymes that help provide nutrients to the body.

What are signs and symptoms of MTHFR defects?

According to an article on medicalnewstoday.com, some of the symptoms associated with MTHFR defects are:

What happens when there are MTHFR defects?

According to mthfr.net, there are 64 diseases that can be enhanced in the body by impaired methylation.

Some examples include:

How can someone tell if they have MTHFR defects?

Normal physical examinations or blood tests with a doctor can help determine if someone has defects in MTHFR.

Genetic testing can also be used to identify MTHFR defects, but screening for MTHFR gene variants is also recommended by organizations such as the American Heart Association and the American Congress of Obstetricians and Gynecologists.

What are ways you can combat MTHFR defects?

Here are some suggestions on how to enhance the levels of MTHFR in the body.

See original here:
What is MTHFR? Why is it so important for good health? - WKMG News 6 & ClickOrlando

In January, Germany joined the EU's "1+ Million Genomes Initiative". While the German government had previously declined to actively participate in the project and Germany had merely assumed the role of an observer, it can now become involved in sharing genome data across Europe for research purposes. Genome analysis is not only instrumental to the future diagnosis, prevention and treatment of rare diseases, it is also an important economic factor in digital health.

1. GENOME SEQUENCING

Human genomes are made up of at least 20,000 genes containing all our genetic information. Genome sequencing allows us to decode almost all mutations in human genomes. This enables us to identify individual gene defects causing diseases and thus to better diagnose and treat rare diseases. Increasingly, whole genome sequencing is being used in the field of tumours to identify mutations and tailor medication to the genetic makeup of a specific tumour.

But although the development of new technologies such as high throughput DNA sequencing over recent years has made it much easier and faster to carry out human genome research, the mutations that cause disease have been determined only for around 4,000 of the 20,000 protein-coding human genes. Medical researchers will probably need decades to identify all genetic causes of disease.

2. THE EU'S GENOME INITIATIVE: 1 MILLION GENOMES BY 2022

In order to produce reliable scientific findings, researchers need broad access to genomic data from both healthy and sick patients. The aim of the EU's Genome Initiative is to collect at least one million sets of genomic data by 2022 and make these accessible beyond EU borders. The initiative is part of the EU's agenda for the digital transformation of health and care, which is aimed at harnessing the potential of new digital technologies to improve healthcare. In a declaration published in April 2018, EU, EEA and EFTA countries agreed to work together to build up and link genome databases to form a suitable technical infrastructure. So far, 21 EU member states and Norway have signed the declaration. Ten specialised working groups have been set up to look into ethical, legal and social issues, common data standards, best practices for sequencing, issues relating to health economics, research and public sector participation, as well as to analyse uses for rare diseases, cancer and common complex diseases.

3. CURRENT LEGAL SITUATION IN GERMANY

The current market leaders in genome analysis are the USA, China, the UK and some EU member states from Continental Europe. While other countries have already introduced whole genome sequencing as a standard procedure in genetic diagnostics and have produced millions of sets of data, Germany has only generated tens of thousands of data sets from whole genome sequencing. This cautious approach was put down to the particularly high level of interoperability required and restrictions due to data protection regulations.

There are certainly still some legal and also financial obstacles to be overcome in Germany. Although the German Genetic Diagnostics Act (Gendiagnostikgesetz, "GDA") provides a legal framework for genome sequencing for medical purposes and establishing parenthood, there is no specific legislation governing genome analysis for research purposes.

Genetic Diagnostics Act on genome analysis for medical purposes and establishing parenthood

Genome analysis for medical purposes entails diagnostic and predicative genetic testing. Like genome analysis to establish parenthood, it is governed by the GDA. It stipulates that doctors have to provide genetic advice, restricts genome testing and analysis to doctors with appropriate training and provides for a patient's right "not to know" the results. Moreover, according to the GDA, patients must be given comprehensive information on the procedure beforehand and they must grant their consent.

Genome sequencing has already become part of standard care in Germany and since mid-2016 has been included in the German physicians' fee schedule. However, unlike in England, the German system does not cover sequencing of whole genomes but only of a very small gene panel of up to 25 kilobases, which corresponds to an average of four genes. For some diseases, up to 1,000 genes need to be analysed. Doctors wishing to perform larger sequencing projects have to apply for extra-budgetary services. Since such applications have often been rejected in the past due to the strict requirements, there is currently no incentive for physicians to perform medical genome analysis.

Pursuant to the GDA, genetic testing to establish parenthood requires the consent of the individuals providing the samples and can also be performed by specialists not qualified as doctors, for instance molecular biologists. Unlike in the USA, for example, analyses performed privately are not permissible.

No specific legislation on genome analysis for research purposes

The German legislator deliberately decided not to extend the scope of the GDA to cover genome analysis for research purposes, including general research on the factors affecting human characteristics. By contrast to predictive genetic testing, such research is not aimed at developing specific treatment for specific individuals. This means there are no specific regulations in this field of research, so the general statutory provisions apply.

Therefore, for related clinical studies, the general German laws on medicinal products and medical devices apply. They require that participants be provided with full information on any testing and must grant their prior consent. Since genome analysis involves collecting personal data, the General Data Protection Regulation (GDPR) and national data protection regulations also apply. Article 9 of the GDPR classifies genetic data as sensitive data that may only be processed if the data subject has given their explicit consent or with special legal permission. However, the German legislator took advantage of the exemption clauses in Article 89 (2) GDPR. Article 89 states that genetic data may be processed for scientific research purposes even without consent if it would otherwise be impossible to fulfil such purposes and the interests of the party responsible for processing the data significantly outweigh the interests of the data subject in not having data processed. Given the significance of genome sequencing for research, the consent requirement could therefore be dispensed under data protection regulations.

However, this would breach the strict laws on medicinal products and medical devices which require consent to the use of data in clinical studies. Data protection law also entitles data subjects to request information on their data or have their data deleted. This may be difficult to put into practice if large amounts of data have been collected. Another point to be clarified is whether individuals have a right to know or not to know about random genetic findings.

Ultimately, in the absence of specific legislation on genome analysis for research purposes, many legal questions have yet to be answered. It remains to be seen whether the legislator will set out more precise regulations in future.

4. WHERE DO WE GO FROM HERE?

The Federal Ministry of Research (Bundesforschungsministerium) has announced that the next step will be to set up national working groups. A detailed schedule and set of requirements are to be drawn up by mid-2021. Only then will it be possible to develop strategies for the cross-border use of genomic and phenotypic data. According to the Ministry, the first locations for testing the secure sharing of genomic data are to be selected by the end of 2020. On that basis, it will be possible to donate genomes during clinical treatment.

By joining the Genome Initiative, Germany has taken an important step in terms of digital health. Now the task is to adjust the existing legal framework to cover whole genome sequencing and to clarify the remaining legal issues. In future, genome analysis will play a key role not only for major pharmaceutical companies, manufacturers of medical devices, hospitals and research institutes, which are directly or indirectly involved in researching rare diseases, but also for investors. To meet today's legal and regulatory challenges and any further challenges the future may bring, all players will have to keep a close eye on developments in this field.

More:
Germany Joins the Genomes Initiative - Lexology

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

Download PDF Sample Of This Report @https://www.databridgemarketresearch.com/request-a-sample/?dbmr=glo

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

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

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

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

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

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

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

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

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

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

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

By Business Model

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

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

Primary Respondents

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

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

Key Developments in the Market:

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

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

Reasons to Purchase this Report

Order this Complete[emailprotected]https://www.databridgemarketresearch.com/checkout/buy/enterprise/gl

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

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

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

Customization of the Report

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

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

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

Browse Complete Tables and Figures:https://www.databridgemarketresearch.com/toc/?dbmr=global-direct-to

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Here is the original post:
Direct-To-Consumer Genetic Testing Market to Grow with a High CAGR 18% by 2026:EasyDNA, Ancestry, 23andMe Inc., Color Genomics, Full Genomes,Gene by...

ClinGen is funded by the National Human Genome Research Institute (NHGRI), which is itself part of the National Institutes of Health. Erin Ramos, PhD, a project scientist for ClinGen and program director for the division of genomic medicine at NHGRI, said in a release that NHGRI developed ClinGen as a way to standardize guidelines for genetic testing. A panel of experts, including researchers, clinicians and genetic counselors comb through scientific evidence from research papers to identify gene-disease relationships as either definitive, strong, moderate, limited, disputed or refuted.

The experts reported that three genesKCNQ1, KCNH2 and SCN5Awere indeed backed by enough evidence to be categorized as definitive genetic triggers for long QT syndrome. They classified four other genes as either strong or definitive for causing atypical forms of long QT syndrome, but the panel didnt find enough evidence to support the remaining 10 genes.

Those 10 genes were all placed in either the limited or disputed category for their link to long QT syndrome, and for that reason the authors said they dont recommend using them as markers in routine clinical tests.

Our study highlights the need to take a step back and to critically evaluate the level of evidence for all reported gene-disease associations, especially when applying genetic testing for diagnostic purposes in our patients, Gollob said in a statement. Testing genes with insufficient evidence to support disease causation only creates a risk of inappropriately interpreting the genetic information and leading to patient harm.

Go here to read the rest:
Experts dispute 9 of 17 genes once linked to long QT syndrome - Cardiovascular Business

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

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

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

The condition was Trisomy 18.

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

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

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

Broman is not alone.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Continue reading here:
Birth defects second leading cause of death for infants in Indiana - The Herald Bulletin

Dell Medical School at The University of Texas Austin held its second public interest meeting on conducting a memory loss cohort study with Georgetown residents Jan. 31.

Survey results conducted between October and December to gauge public interest in participating in a long-term research study were presented during the meeting.

Results showed that of 279 respondents, 85% were interested in memory and learning activities associated with Alzheimers and dementia. The survey allowed takers to select multiple interests and also found that 72% of respondents were interested in exercise and diet and nutrition as it relates to memory loss.

In addition, 95% of respondents were willing to be assessed in cognitive testing and giving blood samples. The multiselect survey also found that 84% were willing to participate in genetic testing, and 78% were willing to participate in neuroimaging studies.

Alyssa Aguirre, manager of the Cognitive Disorders Center at the Mulva Clinic for the Neurosciences at Dell Medical School, said that the results make sense, as oftentimes, people want to be proactive and learn how they can prevent the disease from occurring.

The study, which would be conducted and partially funded through the Mulva Clinic for the Neurosciences at Dell Medical School, is in its early stages and would still need to be designed before it begins, Aguirre said.

Aguirre said she hopes that resident input will help the school to have studies designed around resident interests.

Other questions found that 94% of people were willing to volunteer as a participant of the study, and 89% of people were willing to be assessed every six months.

For more on the study, click here.

Continue reading here:
Georgetown residents show high interest in participating in Alzheimer's and dementia study - Community Impact Newspaper

The growth of the cannabis testing market is primarily attributed to the European government funding cannabis education for doctors, and the increasing demand for research activities for cannabis quality.

A new report, entitled Europe Cannabis Testing Market to 2025 Regional Analysis and Forecasts by Type; Services; End User and Country, has outlined the growth of the European testing market up until 2025, and highlights that cannabis used as a street drug and trouble with CBD oil are likely to pose a negative impact on the market growth.

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

Cannabis provides the unique opportunities in Macedonia, where the medical system is in a stage of evolution and modernisation.

Local medical specialists are now able to prescribe cannabis in the country. Considering this, Macedonian cannabis promoters worked with local governments and created the medical cannabis training programme in an effort to support doctors and their patients.

Currently, the impetus of the Macedonian medical cannabis movement is moving quickly, and the public opinion on cannabis has also changed dramatically in the region.

The medical marijuana resolution in the region urges the Commission and member states to address regulatory, financial and cultural barriers which burden scientific research and invite them to fund research. Thus, due to the above advancements, the cannabis testing market is expected to grow at a rapid pace during the forecast period.

In 2017, the product segment held a largest market share of 73.7% of the cannabis testing market, by type. This segment is also expected to dominate the market in 2025 owing a diverse portfolio of cannabis testing products to the healthcare industry for innovations in the technologies.

Moreover, the same segment is also expected to witness the highest CAGR in the market accounting to 11.1% in 2018 to 2015 owing to increasing analytical services and medicinal cannabis services in testing cannabis.

The Europe cannabis testing market, based on services was segmented into potency testing, microbial analysis, residual solvent screening, heavy metal testing, pesticide screening, terpene profiling, and genetic testing. The potency testing segment is anticipated to grow at a CAGR of 11.8% during the forecast period.

The testing laboratory segment held a largest market share of 49.2% of the cannabis testing market, by end user. This segment is also expected to dominate the market in 2025 owing to increasing number of diagnostic testing performed in the reference labs for the numerous diseases.

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

Continued here:
European cannabis testing market expected to reach $807.9m by 2025 - Health Europa