Category Archives: Genetics

Newfoundland First Nation to study genetic links with ancient Beothuk – Global News

By StaffThe Canadian Press

Posted December 17, 2019 3:09 pm

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A Newfoundland First Nation has announced a study of genetic links between its members and ancient Indigenous inhabitants of the island, including the Beothuk people.

Miawpukek First Nation announced the study this month, to be done in partnership with Terra Nova Genomics, Inc. and funded by a National Geographic Explorers grant of US$30,000.

READ MORE: Rare DNA quirk could reveal mysteries of Newfoundlands first settlers

Chief MiSel Joe says the study offers an opportunity to compare oral stories that trace family histories back to the Beothuk widely thought to be extinct with scientific evidence.

Researchers plan to begin looking at DNA testing kits from a sample group of 20 people, eventually expanding to assess samples from as many volunteers as possible.

Genetics professor Steven Carr with Terra Nova Genomics says the study is the largest of its kind with an Indigenous group in Canada.

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READ MORE: Remains of two Beothuk people to be returned to Canada

Testing is set to begin in January and Carr says it may be a year or more before findings are ready for publication.

2019 The Canadian Press

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Newfoundland First Nation to study genetic links with ancient Beothuk - Global News

How to bring precision medicine into the doctor’s office – World Economic Forum

Are you one of the 26 million people who have experienced genetic testing by companies such as 23andMe or Ancestry? These companies promise to reveal what your genes say about your health and ancestry. Genes are, indeed, the instruction book containing the code that makes you a unique human being. This specific code which you inherit from your parents is what makes you, you.

The genetic coding system works amazingly well, but like all systems, occasionally things dont go as planned. You may inherit a gene that increases your chance of developing a health condition and sometimes the code develops an error causing you to have a devastating disease.

If genetic testing is so powerful in analysing and understanding your health, why cant you just as easily have this same genetic information inform your care at the doctors office? To answer this question, lets first look at the field of using genetic information to drive your healthcare (often referred to as precision or personalized medicine).

Across the globe, researchers devote enormous amounts of time and effort to understand how human genes impact health and billions of dollars are invested. The knowledge of what impact specific genes have on our health has increased tremendously and continues to do so at an amazing pace. Our increased understanding of genes, and how they affect our health, is driving novel methods to halt diseases and new ways of thinking about how medications can be developed to treat diseases.

Precision medicine is a growth area

With all this money and effort being expended, why isnt the use of your genetic information a standard part of your medical care? As the Kaiser Permanente Fellow to the World Economic Forums Precision Medicine Team, I recently had the opportunity to interview leaders from every aspect of Precision Medicine to understand the barriers preventing genetic testing from becoming a standard part of your healthcare.

Those with whom I spoke included insurance companies who pay for the tests, doctors who use and interpret them, genetic counsellors who help you understand test results, diagnostic companies which develop testing, government healthcare regulators, researchers making astonishing discoveries and healthcare organizations who are determining how best to deploy genetic testing.

These interviews suggest that the science behind genetic testing and the knowledge of how genes impact health is far ahead of our ability to make full use of this information in healthcare. Moving genetic testing into your doctors office requires a complex set of technologies, processes, knowledge and payments. Though many of the barriers inhibiting this movement were unique and complex, there were some consistent and common themes:

1. The limited expertise in genetics within healthcare systems. The need for education of healthcare providers as well as the public was regularly highlighted. The use of genetics in healthcare requires specialized knowledge that is outside the expertise of most doctors. Healthcare providers simply dont have time to study this new and rapidly changing information as their hands are full just keeping up with the latest trends and findings in their specialities. Additionally, education on genetics in healthcare is needed for the public. As one person interviewed said: The public watches CSI and thinks the use of DNA and genetics is black and white; using genetics in healthcare is rarely black and white

2. The lack of sufficient genetic counsellors. Genetic counsellors are often used to engage patients prior to testing and after results have been received, providing them with the detailed and nuanced information required for many of these tests. They also support doctors when they need assistance in making decisions about genetic testing and understanding the test results.

3. To successfully embed genetics into your care, doctors need the workflows for genetic testing (receiving results and understanding the impact on their care plans) to become a seamless part of their work. Clinical decision support software for genetics should alert the healthcare provider when genetic testing is merited with a patient, based on information the provider has entered during their examination. The software should then provide a list of appropriate tests and an explanation of why one might be used over another. After doctors order the test, they believe is most appropriate, the system should inform them of the results in clear, easily understandable language. The results should inform the doctor if the care plan for this patient should be modified (with suggestions for how the care should change).

4. Coverage of payments for genetic testing. If such tests are not paid for by insurers or government healthcare agencies (the payers), doctors simply wont order them. In the US and many other countries, there is patchwork coverage for genetic testing. Some tests are covered under specific circumstances, but many are not covered at all. The major reason cited by the payers for not covering genetic testing is a lack of evidence of clinical efficacy. In other words, do these tests provide actionable information, that your doctor can use to ensure better health outcomes? Until the payers see sufficient evidence of clinical efficacy, they will be hesitant to pay for many types of genetic testing. Doctors are concerned about the same thing, according to my research. They want to see the use of these tests in large populations, so they can determine that there is a benefit to using them.

Using your genetic information in healthcare is much more complex than taking a direct-to-consumer genetic test such as those offered by 23andMe. Healthcare is a multifaceted system and doctors already have too much on their plate. As such, there must be sufficient proof that the use of genetic testing will result in better health outcomes for the populations these clinicians serve before it's introduced into this setting.

We cannot hesitate in the face of the above complexities. As I completed the interviews which revealed these barriers, I stumbled across a journal article on this very subject. Written by a prominent group of doctors and researchers from government and leading universities in 2013, it highlights these same barriers and that virtually no progress has been made in the ensuing seven years. This is why I am focusing my fellowship at the World Economic Forum on a new project called Moving Genomics to the Clinic. Taking advantage of the multistakeholder platform of the Forum, the project will quicken the pace of tackling these barriers so that the use of genetic information can become a standard part of your healthcare experience.

License and Republishing

World Economic Forum articles may be republished in accordance with our Terms of Use.

Written by

Arthur Hermann, Fellow, Precision Medicine, World Economic Forum

The views expressed in this article are those of the author alone and not the World Economic Forum.

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How to bring precision medicine into the doctor's office - World Economic Forum

Harvard Scientist Thinks It’s ‘Ludicrous’ to Compare His Genetics-Based Dating App to Eugenics – Daily Beast

A famed Harvard geneticist is defending his work on a genetics-based dating appand distancing himself from Jeffrey Epstein, the science-obsessed pedophile who fantasized about spreading his DNA by inseminating 20 women at a time at his ranch.

The fact that there are people with completely idiotic ideas about genetics doesnt mean Im one of them, George Church told The Daily Beast in a phone interview.

Just because they hung out with me briefly doesnt mean I bought into their malarkey in any sense, just like geneticists today dont buy into the eugenics of the 1920s.

Church has had to account for his links to Epstein numerous times since the disgraced money manager was indicted for sex-trafficking and then killed himself in jail last August. Most recently, he was grilled about their relationship during a 60 Minutes profile that included Churchs plans for the dating app, which critics have denounced as a modern form of eugenics.

Epstein helped fund Churchs lab at Harvard before being unmasked as a predatorbut Church has admitted maintaining contact with Epstein even after the financier served time and registered as a sex offender.

Now Church has confirmed to The Daily Beast that he was one of several notable scientistsincluding Harvard biology professor Martin Nowak, Harvard astronomy professor Dimitar Sasselov, MIT physics professor Seth Lloyd, and the pioneering biologist Steven Bennerwho attended a 2007 gathering on Epsteins private island Little St. James.

Photos verified by Church show them together on the beach and around a blackboard in discussion with Epstein. The property was nicknamed pedophile island by locals because of the alleged sexual abuse of girls, but Church said he saw nothing untoward at the gathering, which predated Epsteins 2008 guilty plea.

Scientific meetings take place all over the place, and usually youre so wrapped up in the meeting that you dont take advantage of the place youre in. This was one of those cases. We did our science nerd thing and left, he said, noting that the scientists slept on a different island.

Church said the attendees were there to discuss the origins of life and that Nowak later published a paper based on the discussions. We just came there for the meeting and then came back. We looked around the beach a bit. There wasnt much there, frankly. He was building something, some structure, he said.

Church said that Epstein had no influence on his work, which has been focused on allowing humans to live longer with fewer diseases.

To that end, he made an off-handed reference during the 60 Minutes interview to a dating app that would match couples with the goal of eliminating severe hereditary diseases. His brainchild was not well-received. A Fordham associate ethics professor told The Daily Beast the concept sounds like eugenics, likening it to the Nazi ideal of cultivating a master race.

Church said hes been describing the same idea for years now without any furor.

If you know what youre doing is the right thing to help families have healthy children, I dont think you need to worry whether somebody somewhere has been associated with you in a way thats less than ideal.

Church said it was preposterous to compare his work to eugenics.

Its ludicrous to think thats what Im doing, but it makes good clickbait, doesnt it? he said.

The app would prevent people from matching with partners with similar genetic mutations that would induce a congenital disease like Tay-Sachs on the couples children. The geneticist said the technology will likely work alongside established dating sites and apps as a premium service rather than as a standalone, and it wouldnt have access to a users full genome, only whether the person carries specific alleles related to congenital disease.

Eugenics is coercive. Rather than restricting peoples options for their health and their families, were expanding them, he said. Were not going to be forcibly sterilizing people, if thats the business model they think were up to. Thats as far from what we intend to do as can be.

The MIT Technology Review identified the technologys parent company as DigiD8, incorporated in September by Churchs cofounder Barghavi Govindarajan. Its slogan: Science is your wingman. Church said hes funding the app alongside private investors and declined to disclose the amount the fledgling company has raised, calling it adequate. Harvard is not among the investors, he said.

He sees the matchmaking app as a continuation of his work on genetics and part of his duty as a scientist.

I felt like Im providing all these great tools, but theyre very expensive. Gene therapy is a couple million bucks. I feel like its my responsibility to point out alternatives, he said. Its very early stage, though.

One of the questions lingering over the proposed technology is who will decide what genes the software will screen for. Would it further stigma against the chronically ill and disabled? Against trans people, as Vice suggested? Against certain races?

Church said he and his team would leave that question to clinical geneticists, but he described the criteria as genes that result in illnesses that cause very premature deaths, often with pain and a lot of medical costs. He said that the screening would likely rule out only five percent of someones dating pool.

There is no line, just as theres no line with what speed limits should be on the road, but you have to draw one, and medical doctors are very good at drawing practical lines, he said.

Church said hes open to critics, despite what he saw as their overreaction.

If any doubters, after they see whats actually there, make a compelling counterargument, I may change directions, he told The Daily Beast. Im very open to suggestions, and Im very interested to hear what everybody has to say once they see whats really there.

He said he wasnt expecting 60 Minutes to air his comments about the dating app. He published a FAQ Wednesday on his website explaining some details of what the technology would look like.

There are medical tests that perform the same function Churchs dating app would. Couples considering IVF can take genetic compatibility tests for specific conditions, and women undergoing the treatment can screen their embryos and weigh the option of abortion if they test positive. Churchs app would start far earlier in the romantic process, which he views as a positive.

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Harvard Scientist Thinks It's 'Ludicrous' to Compare His Genetics-Based Dating App to Eugenics - Daily Beast

Harvard scientist develops DNA-based dating app to reduce genetic disease that critics call eugenics – The Boston Globe

His idea: to include serious genetic disease as part of the criteria on a dating app by asking users to submit their DNA for whole genome sequencing.

Sound weird?

Plenty thought so after Church, in an interview with CBSs 60 Minutes on Sunday, revealed that he is developing the genetic matchmaking tool that could be embedded in any existing dating app. The point of the DNA tool, he says, is to prevent two carriers of the same gene for a rare genetic disease from even meeting in the first place, by making sure they cant view each others dating profiles. That way, on the off chance two people meet on the app, fall in love, and have children, theyll know the baby wouldnt be at risk of having a hereditary disease.

Church calls it digiD8. And so far, it has freaked out a lot of people.

The word eugenics screamed across headlines this week. Vice called it a horrifying thing that shouldnt exist. Gizmodo said it was a dating app that only a eugenicist could love. And some advocates worried Church was trying to wipe out genetic diversity and people with disabilities altogether. Ever considered that having a disease doesnt mean a life thats tragic or full of suffering? Alice Wong, the founder of the Disability Visibility Project, wrote on Twitter.

So in an interview with The Washington Post this week, Church tried to clarify what hes planning to do and how a dating app encoded with your DNA would work. He stressed his strong opposition to eugenics while insisting his lab values genetic diversity, saying the app would only address a subset of the most severe genetic diseases, such as Tay-Sachs or cystic fibrosis.

There are a lot of diseases which are not so serious which may be beneficial to society inproviding, for example, brain diversity. We wouldnt want to lose that, Church said. But if [a baby] has some very serious genetic disease that causes a lot of pain and suffering, costs millions of dollars to treat and they still die young, thats what were trying to deal with.

Church is heading the dating app project with digiD8s cofounder and CEO, Barghavi Govindarajan, as a self-funded startup with some investors he declined to name, as the MIT Technology Review first reported after the CBS interview. Under Churchs bio on the startups website, theres just a quotation: That is not an outlandish idea.

Hes been known to make that case for a lot of his provocative ideas the timelines of which are not always clear. Church who apologized this year for accepting about $500,000 from multimillionaire sex offender Jeffrey Epstein between 2005 and 2007 has been saying throughout the past decade that a woolly mammoth could be brought back from extinction, or he could reverse the aging process in humans. Both of those projects are still underway at the lab, the latter of which is being tried on dogs, he and Harvard students told CBS.

By contrast, he said all the technology is already available for the dating-app tool. Now its just a matter of finding a matchmaking service that actually wants to do this.

Pushing back on the eugenics comparisons, Church said the foundation of his idea is in genetic counseling, which offers couples preconception or prenatal genetic testing to check whether their baby could be at risk of inheriting a disease.

Embedding that into an app would work like this, he said: First, you would submit a sample of your spit to a lab for whole genome sequencing. Church gave inconsistent numbers of genetic diseases that the test would screen for, at first saying 120 to 3,000 but then settling closer to 120. The results of the test would be encrypted and confidential, and not even you, the user, would get to know your results or the results of others, Church said. The rest would work just like normal online dating you just wouldnt see a small fraction of dating profiles.

About 5percent of children are born with a severe genetic disease, and so that means youre compatible with about 95percent of people, Church said. Were just adding this [tool] to all the other dating criteria.

Several bioethicists The Washington Post spoke with said they would hesitate to compare Churchs project to eugenics, which included state-sponsored forced sterilization, mass killings, or imposed breeding throughout the late 19th century to the 1970s. Eugenics is a strong word, said Barbara Koenig, director of the University of California at San Franciscos Bioethics Program.

Rather, both Koenig and Mildred Cho, a professor at Stanford Universitys Center for Biomedical Ethics, said digiD8 reminded them of the digital version of Dor Yeshorim, an Orthodox Jewish organization based in New York that beat Church to the idea by a few decades. Church has cited the group as an inspiration.

The nonprofit was founded in 1983 as a response to higher rates of Tay-Sachs a fatal genetic disorder that destroys the nervous system that was devastating certain communities, such as Ashkenazic and Sephardic Jews. Before marrying, couples can go to Dor Yeshorim for genetic testing. To avoid stigmatizing people, the organization does not tell couples anything about their genes, just whether they are compatible. This is especially important in societies where theres less reliance on termination [of a pregnancy], Koenig said.

In its earlier days, the group faced virtually all the same questions and uncertainties from critics that digiD8 is encountering now. Even a decade after Dor Yeshorim was founded, The New York Times asked in a 1993 headline: Nightmare or the Dream of a New Era in Genetics?

Cho said she could understand why people reacted so negatively to Churchs idea, fearing a slippery slope or unintended consequences to the genetic technology. For now its a dating app, but how else might others harness genetic technology in a way that could further invade lives? To Churchs critics, digid8 is already over that line.

I dont think those fears are completely unfounded, Cho said. I think what people are reacting to is this sense of kind of genetic determinism, and this idea that somebodys DNA can somehow make them incompatible, as if all their other personality traits and behavior really isnt as important as their DNA.

But for Koenig and Cho, the other big question, aside from whether this will work, is whether people would even care to use it. Do people even want this in their dating app? Thats a question Church said hes trying to figure out as well.

An app seems silly to me, Koenig said. People dont fall in love and marry and have children based on purely hyper-rational decisions.

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Harvard scientist develops DNA-based dating app to reduce genetic disease that critics call eugenics - The Boston Globe

This genetic variant is underdiagnosed, under-recognized, and deadly | Penn Today – Penn: Office of University Communications

A genetic variant in the gene transthyretin (TTR)which is found in about 3 percent of individuals of African ancestryis a more significant cause of heart failure than previously believed, according to a multi-institution study led by researchers atPenn Medicine. The study also revealed that a disease caused by this genetic variant, called hereditary transthyretin amyloid cardiomyopathy (hATTR-CM), is significantly under-recognized and underdiagnosed.

The findings, which were published inJAMA, are particularly important given the U.S. Food and Drug Administrations approvalof the first therapy (tafamidis) for ATTR-CM in May 2019. Prior to the new therapy, treatment was largely limited to supportive care for heart failure symptoms and, in rare cases, heart transplant.

Our findings suggest that hATTR-CM is a more common cause of heart failure than its perceived to be, and that physicians are not sufficiently considering the diagnosis in certain patients who present with heart failure, says the studys corresponding authorDaniel J. Rader, chair of the Department of Genetics at Penn Medicine. With the recent advances in treatment, its critical to identify patients at risk for the disease and, when appropriate, perform the necessary testing to produce an earlier diagnosis and make the effective therapy available.

Read more at Penn Medicine News.

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This genetic variant is underdiagnosed, under-recognized, and deadly | Penn Today - Penn: Office of University Communications

Harvard Geneticist Making Genetics-Based Dating App Thinks It’s Ridiculous That We’re Comparing It to Eugenics – Jezebel

Photo: Craig Barritt (Getty Images for The New Yorker)

Harvard geneticist George Church thinks its ludicrous to compare his dating app that uses genes to pair adults together to eugenics. Its ludicrous to think thats what Im doing, but it makes good clickbait, doesnt it? Church told The Daily Beast.

Churchs dating app would stop people from matching with potential partners with similar genetic mutations that could result in conditions like Tay-Sachs, according to The Daily Beast. It would be a premium service on already existing dating apps. Eugenics is coercive. Rather than restricting peoples options for their health and their families, were expanding them. Were not going to be forcibly sterilizing people, if thats the business model they think were up to, Church said. Thats as far from what we intend to do as can be.

Hes painting the idea as a way to help people create families. If you know what youre doing is the right thing to help families have healthy children, I dont think you need to worry whether somebody somewhere has been associated with you in a way thats less than ideal, Church told The Daily Beast.

Curious about person associated with it whos less than ideal? Church used the interview to distance his connection to the late Jeffrey Epstein, who at one point proposed inseminating hundreds of women on his New Mexico farm. Just because they hung out with me briefly doesnt mean I bought into their malarkey in any sense, just like geneticists today dont buy into the eugenics of the 1920s, Church told The Daily Beast.

Epstein was one of the funders of Churchs lab at Harvard, and Church maintained contact with the convicted sex offender after Epstein registered as sex offender. In fact, Church went to Epsteins private island, Little St. James, in 2007. But dont worry, the scientists in attendanceslept on a separate island. Scientific meetings take place all over the place, and usually youre so wrapped up in the meeting that you dont take advantage of the place youre in. This was one of those cases. We did our science nerd thing and left, Church said.

Church said doctors will be the people drawing the line about what is acceptable to weed out of offspring, likely genes that produce illnesses that cause very premature deaths, often with pain and a lot of medical costs, he said. There is no line, just as theres no line with what speed limits should be on the road, but you have to draw one, and medical doctors are very good at drawing practical lines.

The only good part of this interview is his assertion that hes open to suggestions! If any doubters, after they see whats actually there, make a compelling counterargument, I may change directions, Church told The Daily Beast. Im very open to suggestions, and Im very interested to hear what everybody has to say once they see whats really there.

My compelling counterargument: Being casual about eugenics has never ended well.

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Harvard Geneticist Making Genetics-Based Dating App Thinks It's Ridiculous That We're Comparing It to Eugenics - Jezebel

Tipperary’s Dovea Genetics and Herdwatch join forces to launch new initiative – TipperaryLive.ie

Software company Herdwatch and AI company Dovea Genetics, two leading Irish companies in the Agri-sector, both headquartered in Tipperary with international operations, have entered a strategic partnership which will see the Herdwatch farm management software solution adopted by potentially thousands of Dovea Genetics customers.

Dovea Genetics was founded in 1952 and has been a leader in bovine artificial insemination (AI) since, while Herdwatch is part of FRS Network (Farm Relief Services), a farmer-owned co-operative established in 1980.

Herdwatch is used on over 11,000 farms in Ireland and the UK, making it the leading farm management software platform in those markets, while Dovea exports to 26 countries.

The two companies hope to bring even more efficiency gains to farmers who need every bit of help they can get in the current climate.

We are very pleased to team up with Herdwatch, as we share a common ethos and are both passionate about supporting our customers in making the best decisions for their farm business, said Dovea general manager Dr Ger Ryan.

He said that the Herdwatch solution had a full breeding life cycle module, integrated with ICBF, where farmers can track and manage serves, scans and get automatic reminders on due dates through-out their season which are all very important for our farmers.

Herdwatch has made a name for itself over the past six years by helping farmers save hours on paperwork every week, and make better decisions via an easy-to-use app on mobile, tablet or laptop.

The Roscrea-based software company is set to deliver even more innovation as it launches a completely new version of their software this week.

This new app, called Herdwatch NG (Next Generation) is leaner, meaner and faster than ever, according to the company.

FRS are very excited to be associated with the Herdwatch success story in Tipperary and right across the country, said Peter Byrne, FRS Network CEO and Herdwatch director.

This Next Generation app had taken significant investment and as a farmer-owned co-op FRS was delighted it will make such a difference for farmers, he said.

The new app is being launched at the Winter Fair in Belfast by rugby legend Rory Best, who uses Herdwatch on his suckler farm in County Down.

The Next Generation Herdwatch app will be a great benefit to me as I transition from professional rugby back to looking after our herd at home along with a few other projects. Like in Rugby, you have to make things which are complicated appear simple, and Herdwatch, which was already easy to use, will be faster and easier than ever before, said Rory.

The Herdwatch Next Generation app is available to download for free on the Apple App Store and Android Play Store. A free plan is available for all farmers, with yearly PRO memberships starting at 79, plus VAT.

For more information about Herdwatch, visit http://www.herdwatch.com or call 0505-34400.

For more information about Dovea Genetics, visit http://www.doveagenetics.ie or call 0504-21755.

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Tipperary's Dovea Genetics and Herdwatch join forces to launch new initiative - TipperaryLive.ie

Depletion of microbiome-derived molecules in the host using Clostridium genetics – Science Magazine

Chun-Jun Guo

Department of Bioengineering and ChEM-H, Stanford University, Stanford, CA 94305, USA.Jill Roberts Institute for Research in Inflammatory Bowel Disease, Department of Medicine, Weill Cornell Medicine, NY 10021, USA.

Breanna M. Allen

Graduate Program in Biomedical Sciences, Departments of Otolaryngology and Microbiology and Immunology, Helen Diller Family Comprehensive Cancer Center, Parker Institute for Cancer Immunotherapy, University of California, San Francisco, San Francisco, CA 94143, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

Kamir J. Hiam

Graduate Program in Biomedical Sciences, Departments of Otolaryngology and Microbiology and Immunology, Helen Diller Family Comprehensive Cancer Center, Parker Institute for Cancer Immunotherapy, University of California, San Francisco, San Francisco, CA 94143, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

Dylan Dodd

Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA.

Will Van Treuren

Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

Steven Higginbottom

Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

Kazuki Nagashima

Department of Bioengineering and ChEM-H, Stanford University, Stanford, CA 94305, USA.

Curt R. Fischer

Department of Bioengineering and ChEM-H, Stanford University, Stanford, CA 94305, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

Justin L. Sonnenburg

Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

Matthew H. Spitzer

Graduate Program in Biomedical Sciences, Departments of Otolaryngology and Microbiology and Immunology, Helen Diller Family Comprehensive Cancer Center, Parker Institute for Cancer Immunotherapy, University of California, San Francisco, San Francisco, CA 94143, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

Michael A. Fischbach

Department of Bioengineering and ChEM-H, Stanford University, Stanford, CA 94305, USA.Chan Zuckerberg Biohub, San Francisco, CA 94158, USA.

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Depletion of microbiome-derived molecules in the host using Clostridium genetics - Science Magazine

ACMG recommends evaluations of breast cancer patients before genetic testing – News-Medical.net

According to a statement on behalf of the American College of Medical Genetics and Genomics (ACMG) published Dec. 13 in the organization's official journal, Genetics in Medicine, there is insufficient evidence to recommend universal genetic testing for BRCA1/2 alone or in combination with multi-gene panels for all breast cancer patients.

The guidance from the ACMG differs from a consensus guideline issued in February by the American Society of Breast Surgeons, which recommended genetic testing for all newly diagnosed patients with breast cancer. The ACMG recommends evaluations before genetic testing.

What we are saying is that all women with breast cancer should be evaluated for the need for genetic testing based on existing clinical criteria."

Tuya Pal, MD

Pal is one of the lead authors and associate director of Cancer Health Disparities at Vanderbilt-Ingram Cancer Center.

The group wrote the statement on behalf of the ACMG Professional Practice and Guidelines Committee.

"We expect that the evidence to support testing may evolve at different rates for different genes, and we expect that therapeutic indications will play a major role in the incorporation of genes to multi-gene panels," Pal and co-authors stated in the paper.

"Consequently, as guidelines for testing are developed, it is critical to ensure they are supported by evidence and resources supporting strategies that include screening, medical and/or surgical care as indicated. Ideally, professional societies should work together to weigh data, formulate and harmonize evidence-based recommendations and seek to reduce barriers to care."

The ACMC document stressed the importance of genetic testing and said all breast cancer patients should be evaluated to determine whether germline genetic testing for hereditary breast cancer is warranted.

They noted that only a small proportion of the at-risk population for hereditary breast cancers has been tested, with one estimate indicating that less than 10% of adults with BRCA1/2 pathogenic or likely pathogenic variants in the U.S. have been identified. Testing rates are disproportionately lower among racial and ethnic minority populations.

"As genetic testing now has the potential to guide cancer care, it has become imperative to ensure that all populations may benefit from these tremendous advances and that existing disparities in testing do not widen," Pal said. "In order to ensure this, we need to be intentional in developing and disseminating efforts such that improved outcomes based on genetic testing are experienced across populations."

The ACMG document provided the following guidance for clinicians to consider:

In discussions with patients, clinicians should be aware of the current insufficient evidence to support genetic testing for all patients with breast cancer.

After identification of a pathogenic or likely pathogenic mutation in moderately penetrant breast cancer genes, clinicians should recognize that guidance is based on consensus recommendations and that enhanced screening, to date, has not been associated with enhanced survival or earlier stage diagnosis.

Whenever genetic testing is performed on a clinical basis, the testing should include full gene sequencing and be conducted in a lab certified or accredited by either the College of American Pathologists or Clinical Laboratory Improvement Amendments.

Patients should be counseled about the implications of genetic testing by trained genetics professionals or health care providers with special expertise in cancer genetics principles.

Patients who have a pathogenic or likely pathogenic variant in an established breast cancer associated gene should be educated about the importance of cascade testing of family members.

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ACMG recommends evaluations of breast cancer patients before genetic testing - News-Medical.net