Category Archives: Genetics

Once again, experts are warning that using a consumer DNA test is effectively signing away any notion of your genetic privacy.

While it can be fun to learn about your ancestry by spitting in a tube and letting some startup analyze your genome, it also potentially makes you vulnerable to discrimination or unfair treatment based on what your genes reveal about your health and medical conditions, KSDK reports.

Its illegal for an employer to discriminate against employees based on genetics employees cant legally be fired if their DNA contains a warning sign for cancer, for example but other powerful groups arent beholden to those laws.

That law does not protect against discrimination in other settings, Consumer reports associate editor Cathy Roberts told KSDK. Some big examples are life insurance companies, long-term care insurance, disability insurance. These insurers can make decisions about your premiums, about your coverage, based on genetic information.

In that regard, regulations that might protect consumers have lagged behind the rate at which these tests have developed and proliferated.

It is kind of a Wild West as far as regulation, Roberts told KSDK.

The privacy concerns surrounding DNA test kits are valid enough that the Department of Defense issued a warning to all of its employees that said not to use them, because doing so places too much trust in whatever DNA test startup they happen to choose.

I would say if theyre really being leery about their employees taking these tests, I would really take heed to that, Parameter Security CEO David Chronister told KSDK.

Go here to read the rest:
Experts: Corporations Could Do Terrible Things With Your DNA - Futurism

Seattle Genetics productive streak continues.

After closing out 2019 with its second approved drug a potential blockbuster in Padcev the ADC biotech then presented data showing that Padcev combined with Keytruda may be more effective than Keytruda alone for bladder cancer patients.

And on Thursday, the company announced another drug has been accepted for FDA review and has been given priority status. The drug, tucatinib, is being assessed as part of a combination treatment for locally advanced or metastatic HER2-positive breast cancer. A PDUFA date has been set for August 20, 2020.

The application to market the drug is based on positive progression-free survival and overall survival data from a Phase II trial unveiled in December: Patients given tucatinib lived about 2 months longer without their cancer returning.

Unlike the rest of Seattles pipeline, tucatinib is not anADC, or an antibody-drug conjugate. Once a trendy idea, the concept fell mostly out of the news for years before Seattle Genetics recent success revived interest. The technology essentially uses an antibody as a kind of homing system to guide a cytotoxic drug to the tumor site.

Rather, the drug is a selective tyrosine kinase inhibitor for HER2. It did not come from in-house, but was originally developed by Array BioPharma, who licensed it to Cascadian Therapeutics. Seattle Genetics bought Cascadian for $614 million in 2018.

In addition to tucatinib and Padcev, known chemically as enfortumab vedotin, Seattle Genetics also has a Phase II ADC in collaboration with Genmab and a Phase II ADC in collaboration with Takeda.

Here is the original post:
Seattle Genetics gets another drug close to the finish line - Endpoints News

The US Department of Agriculture (USDA) released new information regarding feed use and livestock production in Mexico in a report from the Foreign Agricultural Service (FAS) on Friday.

Increasing livestock production in Mexico has been supported by the movement toward vertical integration in production and improved biosecurity, the FAS reported. Stable feed prices and better zoo-sanitary conditions suggest that the expansion will continue.

Feed price consistency has allowed livestock breeders to seek better genetics, the agency said.

Feed prices did slightly fluctuate in the last two quarters of 2019, but industry expects overall grain and feed price stability to prevail through 2020, the agency said. The stability in feed prices as well as steady domestic livestock prices allow producers to focus their operations more on breeding than slaughtering.

In marketing year (MY) 2020, beef production is expected to reach 2.1m metric tons (MT) and consumption is expected to reach 1.9m MT, the FAS said. Industry growth from 2015 through 2019 averaged about 2% annually, despite changes in prices for feed and grains.

The Mexican beef industry has kept a steady pace of investments, adaption of new and improved production practices, as well as improved technology to stimulate the beef production sector, the agency said.

Swine production in MY 2020 is anticipated to be a 20.3m head based on increasing consumer demand and supported by vertical integration of producers, the agency said. Pork production is forecast to reach 1.47m MT.

According to industry studies, pork consumption has increased as a share of domestic consumption from 28% to close to 32%, with poultry retaining the biggest share at over 60%, the agency said.

During the 2018-19 export cycle, Mexicos exports of cattle to the US reached 1.313m animals an increase of 17.6% from the previous year, the FAS said. Trade has been valued at more than $760m.

Trade is expected to continue expanding, if more slowly, during MY 2020, the agency said.

A pilot program has been established to regulate trade and improve zoo-sanitary status in live cattle coming in from Guatemala, the agency said. The agreement emphasizes that cattle to be exported from Guatemala will come from ranches certified by the Ministry of Agriculture of Guatemala (MAGA) as free of bovine tuberculosis and brucellosis, which will be tagged with the Central American Electronic Earring and utilizes radio reference technology.

Personnel from MAGA and the International Regional Agency for Agricultural Health (OIRSA) will verify the fulfillment of a 21-day quarantine of cattle at the ranch of origin or in the feedlots constituted for it, FAS said. Currently, 70 ranches in Guatemala have been certified, and the program is set to run through November 2024.

Beef imports in MY 2020 are expected to increase to 212,000 MT, the agency said. The United States remain the main beef provider to Mexico with 86% market share, followed by Canada with 7.5%, and Nicaragua with 4.7%.

Exports of beef in MY 2020 are forecast to increase by 10% and reach 347,000 MT, the FAS said. Expanding the use of feedlot-based production is one factor supporting the increased exports.

Japan is consolidated as the second most important export market for Mexican beef, comprising 7% of Mexicos beef exports, followed by Hong Kong with 4%, the agency said. For many years, South Korea was the third most important Mexican beef export destination, but now holds the fourth position with 2% of market share.

On the swine side, the forecast for MY 2020 calls for live hog imports of 41,000 head and pork imports of 1m MT, the agency said. Mexico is dependent on imports to meet domestic demand, but imports have been slow based on the countrys economy.

In MY 2020, imports will rise compared to their low in 2019, as pork consumption continues its positive trend and growing exports to China compete with domestic consumption, the FAS reported.Mexico will resume imports from the United States in order to satisfy the domestic demand.

Pork exports are predicted to reach a record 250,000 MT as Mexico focuses on supplying Asian markets, the agency said.

Mexican pork exports have grown considerably through 2019, especially to Japan, the agency said.The trend will continue as the industry is expecting an important growth of exports for 2020, especially to China.

See the article here:
Mexico: Feed prices allow for production growth, genetic focus - FeedNavigator.com

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

Read more from the original source:
Promises and perils of using genetic tests to predict risk of disease - The BMJ

CARMEL, Ind., Jan. 24, 2020 /PRNewswire/ --AgReliant Genetics, a leader in seed research, production and provider of seed solutions, signed a contract with GyanSys Inc. ("GyanSys"), a leading IT services provider headquartered in Indiana, to implementSAP S/4HANA on HANA Enterprise Cloud (HEC) as part of their digital transformation journey to replace their legacy ERP systems.

Steve Thompson, CIO of AgReliant Genetics "GyanSys led our team to conduct S/4HANA Best Practice workshops, gap analysis, and recommended the right SAP software bill-of-materials. AgReliant is excited to start our digital transformation journey partnering with GyanSys to build a scalable digital core for our Finance, Purchasing, Planning, Sales, Manufacturing, and Warehouse Management systems."

Rajkishore Una, President & CEO of GyanSys "GyanSys is committed to successfully deliver AgReliant Genetics' new SAP environment with our global delivery approach and our best practice-led implementation methodology. We are bringing our expertise in SAP S/4HANA digital core, alongside BPC, EWM, aATP, Manufacturing for Planning & Scheduling, and Analytics Cloud, for AgReliant to derive the most value from this strategic investment."

About AgReliant Genetics:

AgReliant Genetics offers corn, soybean, sorghum, and alfalfa seed solutions to farmers through their product brands. Contact your local AgriGold, LG Seeds, or PRIDE Seeds representative for more information.

Learn more about AgReliant Geneticsat http://www.agreliantgenetics.com.

About GyanSys Inc.:

GyanSys is a mid-tier global systems integrator specializing in SAP, Salesforce, Microsoft, and ServiceNow Platforms to improve the Sales, Finance, Supply Chain, Manufacturing, Operations, and HR business processes to support digital transformation.

Headquartered in Indiana, GyanSys was founded in 2005 and has approximately 1,000+ professionals globally serving 125+ customers across various industries, including the manufacturing, automotive, high-tech, CPG, and life sciences industries.

For more information about GyanSys, visit http://www.gyansys.com.

For press inquiries and more information, contact:Cliff SaitoDigital Marketing ManagerE-mail: cliff.saito@gyansys.com

Related Images

gyansys-logo.png GyanSys Logo

Related Links

AgReliant Genetics Website

GyanSys Website

SOURCE GyanSys

Home

Originally posted here:
GyanSys Selected by AgReliant Genetics as the Primary Partner for Their Implementation of SAP S/4HANA as Part of Their Digital Transformation -...

Washington: A group of researchers from Australia has formulated a genetic test that could detect peoples susceptibility towards developing glaucoma, which is a debilitating ocular disease that can potentially make its sufferers go blind.

The team of scientists suggests that there are 107 genes that are responsible for the onset of this condition.

They are looking forward to 20,000 peoples participation in their Genetics of Glaucoma Study in order to help them find more genes involved in the disease.

Glaucoma is characterised by progressive damage and degeneration of the optic nerve which also causes gradual loss of vision. It is the leading cause of irreversible blindness worldwide and is predicted to affect 76 million people by 2020.

There is still no proven cure for the disease, but treatment can reliably slow or halt deterioration in most cases. Up to 50 percent of those affected are not even aware.

Stuart MacGregor, lead researcher and the head of QIMR Berghofers Statistical Genetics Group, Associate Professor, said that identifying new genes allowed them to develop a glaucoma polygenic risk score (PRS) that can predict who is likely to get the eye disease.

Glaucoma is a genetic disease and the best way to prevent the loss of sight from glaucoma is through early detection and treatment, MacGregor defined.

Our study found that by analysing DNA collected from saliva or blood, we could determine how likely a person was to develop the disease and who should be offered early treatment and/or monitoring, he added.

He also feels that unlike existing eye health checks that are based on eye pressure or optic nerve damage, the genetic test can be done before damage begins so that regular screening can be put in place.

Clinical lead researcher and academic head of the Department of Ophthalmology at Flinders University, Professor Jamie Craig, said that the study results gave hope that mass screening for glaucoma could be offered in the future.

There are Australians who, if theyd had appropriate treatment a few years earlier, wouldnt have gone blind, said Professor Craig, who is also a consultant ophthalmologist.

One in 30 Australians has glaucoma, but most people only find out they have it when they go to the optometrist because they are losing vision, or for a general eye check, shares Craig, continuing, Early detection is paramount because existing treatments cant restore vision that has been lost, and late detection of glaucoma is a major risk factor for blindness.

He said that glaucoma can arise at any age but most of those affected are in their 50s or older, so their aim is to offer blood tests to people of that age to find out if they are at risk, and then hopefully act on it.

This test is likely to be helpful in identifying those who would benefit from a more aggressive intervention such as surgery rather than simple eyedrops.

The researchers are hoping to get in touch with people with a family history of the disease. We want to know who will get glaucoma, and for those who are susceptible, we want to be able to pinpoint at what age theyre going to get it, said Associate Professor MacGregor.

The researcher concluded, That would allow us to develop a personalised approach for earlier treatment of high-risk individuals, and means people at lower risk could have less intensive monitoring and treatment. This would have benefits for patients, doctors and the health care system with reduced interventions and reduced costs.

Original post:
Genetic test developed to predict onset of glaucoma - The Siasat Daily

Jens Carlsson of the UCD School of Biology is co-founder of the Area 52 research group that aims to solve a variety of genetic questions.

After completing his PhD in 2001, followed by a stint at the Danish Institute for Freshwater Research in Silkeborg, assistant professor Jens Carlsson travelled to the US in 2002 to work as a postdoc at the Virginia Institute for Marine Science.

In 2007, he was appointed a visiting associate professor at Duke University, North Carolina, to research the population structure of striped sea bass.

In 2009, he travelled to Ireland to work at University College Cork as a senior research fellow, which included work on deep sea vessels. Then, in 2012, he made the move to University College Dublin and established his research group, Area 52.

Too many people have been watching the CSI TV series and have strange ideas of how a modern genetics laboratory works JENS CARLSSON

I think I have had an interest in fish since I was introduced to fishing as a kid. While completing my BSc project, I was fascinated by the questions you could ask and answer using scientific approaches.

The freedom that academic research has for coming up with projects and then sourcing funding, to actually examine these questions, was probably the reason why I stayed on in science.

The research group Area 52 quickly developed when I started working in UCD. It is now a rather diverse group and we take on research questions from a wide range of disciplines from viral diseases in fish to identification of human remains.

It is the use of genetic methods that allows us to work with these very diverse questions and, so far, all organisms have DNA or RNA so there are a huge variety of questions that we can address.

This also means that we collaborate with a large number of colleagues. While we have the genetic expertise, we also need to work with people who understand the biology and ecology of the organisms.

When Area 52 started, it was only myself and my wife and lab manager in the lab group. But now it has grown significantly and consists of undergraduates, summer interns, visiting students, MSc students, PhD candidates, postdocs, research fellows and research scientists.

I believe that genetics has the capacity to answer questions that no other research field can do.

For example, when you look at marine fish, there are no clear barriers preventing different populations from mixing. However, this does not mean that the fish all belong to the same biological unit or population.

While fish from multiple biological units can mix at feeding areas, they often return to specific spawning sites with each spawning site representing a single biological unit.

Multiple species have been shown using genetics separated into different populations to represent different biological units. This has profound implications for the management of fisheries species, as the level where management needs to take place is natural biological units and this might differ depending on the time of the year.

You might have multiple populations mixing at feeding grounds and it is very difficult to say which fish came from which population when being caught in commercial fisheries as they tend to look the same. However, by using genetic tools we are able to say which individual belongs to which population.

Furthermore, Area 52 has a strong focus on developing non-invasive sampling methods for studies of terrestrial mammals such as elephants, zebras and giraffes primarily in Kenya.

It is often very difficult and invasive to collect genetic material for these animals. We focus on using scat samples that are completely non-invasive. The animal does its business and we collect the scat and use that as source of genetic material.

Area 52 often works with method development and these methods can obviously be used in the commercial world. For example, the management of fisheries species and the integrity of supply chains.

However, the main focus of the lab is in deploying the methods we develop in conservation and environmental monitoring of water ecosystems.

It is always difficult to find time to do the research. You are teaching, mentoring, doing research and administration. At the same time, you need to secure funding for your research and that is difficult.

This is not only because of the lack of time, but also because of the strong competition among researchers for the very limited funding. This means that you can spend significant time on writing a grant application and then it is not funded. I wish the success rate of grants would be higher.

Too many people have been watching the CSI TV series and have strange ideas of how a modern genetics laboratory works.

The big question is climate change and how that will affect distribution and survival of species. This is a very important question requiring collaboration among a large number of researchers from many different fields of science.

Are you a researcher with an interesting project to share? Let us know by emailing editorial@siliconrepublic.com with the subject line Science Uncovered.

Original post:
Fishy genetics: A behind-the-scenes look at UCD's Area 52 - Siliconrepublic.com

Harvard biologist George Church already needed to apologize for a palling around with Jeffrey Epstein even after the financier pleaded to responsible for preying on minors a decade in the past. Now hes elevating eyebrows once morewith plans for a genetics-based courting app.

In an interview with 60 Minutes, Church stated his expertise would pair people based on the propensity of their genes, when mixed in kids, to remove hereditary ailments. Yuko, in contrast, the app, as described, to the Nazi purpose of cultivating a grasp race: I believed we realized after World War II that we werent going to be doing that, she stated.

The church was a part of the coterie of scientists with whom Epstein ingratiated himself via large donations, and Epstein helped bankroll his lab from 2005 to 2007. Church has admitted he repeatedly met and spoke with Epstein for years after the 2008 plea deal that landed him on the intercourse-offender registry.

Epstein had a twisted take on genetics, internet hosting scientific conferences at which he expressed his want to propagate his personal genome by impregnating as much as 20 girls at a time at his New Mexico ranch, like cattle inventory.

Within the 60 Minutes interview, Church referred to as his ties to Epstein unlucky and added: You do not all the time know your donors in addition to you want to.

However, a lot of the phase was dedicated to Churchs genetic-engineering work at Harvard Medical School, together with the app that might theoretically display out potential mates with the improper DNA.

The geneticist didnt drop the apps to identify, or how far alongside its in improvement. He additionally didnt reply to a request for a remark.

Within the interview, the Church acknowledged the drawbacks of genetic sorting. He suffers from dyslexia, consideration deficit dysfunction, and narcolepsyissues that may render him an incompatible match to many. Yuko stated the choice standards could be a sticking level for Churchs app thought.

More here:
A New Genetic Based Dating App Will Soon Arrive in The Market - Science Market News

Its that time of year again an avalanche of ads urging us to drool into tubes so companies can spit back verdicts on our pasts, presents, and futures. Judging from my emails, those unceasing ads have inspired many questions about genetics in general.

Among the emails that pinged in recently:

So I started a list of my e-mails, with apologies to Hillary, and extracted three recurring themes: transgender identity, when a human life begins, and by far the largest group: interpreting DNA test results, either consumer or clinical.

What do you think about a new studythat found 20 genetic markers of transgender identity? asked a reporter from The Times of London In March 2018. Id suggested just such a study a year earlier, which hed found here.

Impressed with the study, I agreed to comment. But the reporter forgot to distinguish me from the researcher, and so throughout Europe, I was suddenly an expert on transgender genes. And that inspired some telling emails.

The first, from a trans woman born in 1948, shared her 70-page story:

As far back as I can remember I thought nothing of going into my mothers closet, pulling down her nightgowns, and putting them on. They were soft, they smelled of her, and they felt so perfect. This was me. Everything feminine fascinated me. Anything male repelled me. I wanted to emerge myself in the female world. But no matter what I did, I just couldnt look like Mommy.

Another transgender woman wrote:

I would love to have that degree of certainty that a genetic study would show. Parents would be able to perhaps work with their children instead of ignoring it either intentionally or out of ignorance.

A recent email from 58-year-old Edith brought up nature v nurture:

Two of my nine nieces and nephews are transitioning. My family has an overall fluid concept of gender identity, which we discussed with each other before either child made it known they were trans. I find myself wondering if this is true in other families.

Me too.

I repost 17 timepoints whenever womens reproductive rights are threatened, or I read or hear a comment that indicates ignorance of biology. The idea of the list came to me when considering that an embryos genome turns on at day 5, but it cant possibly exist at that point outside of a womans body.

One woman asked about fetal rights. Her ex had given her an herbal abortion tea without her knowledge when she was pregnant. Her baby so far is healthy, but she wants a court to recognize the tea-poisoning as child abuse. At what point in utero does a fetus have rights? It seems to vary state to state, she wrote.

Celia Collias, a statistics major at the University of North Carolina, offered a compelling perspective: distinguishing two types of viability. Natural ability to be physiologically independent for a human fetus is around 24 weeks. Technologically assisted viability for a human fetus is 21 weeks.

If we dont use natural viability as the cut off for reproductive rights, Ms. Collias argues, then those rights will erode as technology sets back the age of assisted viability:

Technologically assisted viability is not free. If we allow that to be the benchmark, its going to cost society a lot to care for all those fetuses where would that money come from?

Good question.

Is he really my brother? asked the woman who sent me scanned columns of genetic markers. I circled 16 of 38 that they share and sent it back: Yes.

I dont have mutations in BRCA1 or 2, so Im ok, right? I do have a mutation in ATM (or p53 or CHEK2 or PTEN or RAD51 or a few dozenothers). Inherited mutations for cancer risk go beyond the most common ones in the BRCA pair, and altogether they account for only 5 percent of cases. Yes, shes at high risk.

BRCA brings up the limited variant problem. Consumer DNA tests, for cancer or single-gene diseases, are likely to check for only the most common variants, such as a handful of mutations in the CFTR gene behind cystic fibrosis, which has more than 1,700. These health reports may provide a false sense of reassurance and should not be used for making any health decisions without confirmation testing, said Edward Esplin, MD, of Invitae, a clinical testing company, at the American Society of Human Genetics conference in October, catalyzing a flood of headlines.

I had a prenatal screen for 125 genes and one is a variant of uncertain significance. What the heck is a VUS? Do I have a mutation or not?

A VUS is a gene variant that isnt common, but hasnt shown up in someone with a disease and reported in the medical literature. Yet. I explain here.

My ethnicity estimate changed overnight. Huh? When an ancestry company adds a new group to its database of reference populations, the sections of those pie charts can shift, or a new one appear.

Im 20 weeks pregnant. The fetus has a microduplication of chromosome 18. Is that a problem? The healthy dad-to-be also had the tiny extra bit of DNA. So, no.

I just found out that I have an extra Y chromosome. Ive had severe acne since my early teens, and today Im 62 and weigh 295 pounds. Im a biker, football player, and served time for selling pot. Did my extra chromosome get me arrested?

Probably not. Being in the wrong place at the wrong time, before decriminalization, was more likely at fault.

Because most of my email brings up medical matters, heres a short guide to getting help in making sense of DNA test results related to health. (For interpreting ancestry findings, the International Society of Genetic Genealogy is an excellent resource.)

Its important to distinguish consumer DNA tests, which anyone can take by purchasing a kit and spitting or swizzling a cheekbrush, from clinical DNA tests, which a health care provider orders and the FDAs Clinical Laboratory Improvement Amendments (CLIA) regulate.

Like mushrooms materializing after a warm rain, articles, websites, books and companies are springing up to help consumers navigate test-taking and interpretation.

Finding an expert specifically trained at the graduate level in genetics a genetic counselor, PhD geneticist, or MD with genetics/genomics training is challenging because their priorities are in clinical testing, not the entertainment/education space that the consumer companies so ceaselessly promote. Other scientists may be helpful molecular biologists, biochemists but genetics as a discipline transcends DNA, including developmental, transmission, and population and evolutionary genetics too. Ancestry testing in particular melds these levels of genetics.

Assuming a sit-down with an expert to intrepret consumer DNA data isnt happening easily, here are some places to turn.

A longstanding helpful website is Genetics Home Reference, from the NIH.

A newer resource is this report from ConsumersAdvocate.org. Their researchers recently sent DNA anonymously to 9 leading consumer DNA testing companies, interpreted the data, and then wrote a detailed, clear analysis that compares the services, privacy/security measures, online resources, and cost of tests.

Consumer DNA testing is a fast-growing industry with over 26 million users worldwide. That number is expected to grow to 100 million by 2021, Sam Klau, Community Outreach at the organization, told me.

An excellent new book is DNA Nation: How the Internet of Genes is Changing Your Life, by PhD molecular biologist Sergio Pistoi. And my human genetics textbook will be out in a new edition in September. Ive added a chapter called The Genetics of Identity, inspired by having my past rewritten recently thanks to ancestry testing.

The testing company websites, like that of 23andme, provide clear and well-written info on interpreting test results. But without any prior knowledge of genetics, misinterpretation and misplaced angst can arise.

Does the average person know the difference in significance between revealing a pattern of genome-wide single-base variations (SNPs) associated with elevated risk of a trait or illness, and detecting a well-studied mutation in a single gene?

The raw data dump from consumer DNA testing can be overwhelming, and to paraphrase Elizabeth Warren: Theres a company for that. A consumer can pay to avoid bushwhacking through dense SNP forests.

Strategene, for example, is a genetic reporting tool that uses 23andMe data to identify SNPs in a few dozen well-studied, health-related genes, and not every SNP under the sun. The $45 is a sound investment; it would take hours to sort through Google Scholar to DIY. But the client needs to know about the limited variant issue of checking only for common SNPs.

(I was briefly fooled into confusing the company with 1980s biotech giant Stratagene, but its off by one letter and one capitalization. The only person named on the company website is a naturopath referred to many times as Dr., which wouldnt necessarily denote a genetics expert.)

Im curious to see how soon the medical profession catches up. Right now, genetic counselors in the US number only about 5,000. But professional organizations are stepping in. The American College of Medical Genetics and Genomics, for example, offers online continuing medical education, ACMG Genetics 101 for Healthcare Providers.

But doctors Ive encountered recently still go deer-in-the-headlights when I ask a genetics question, just to be obnoxious. And so a company like ActXmakes sense in helping medical professionals keep pace with the growing tide of patients coming in waving consumer DNA test results. The company helps physicians and patients apply 23andMe raw data to select drugs, order clinical tests to help diagnose specific conditions, and to confirm carrier status for single-gene diseases.

When I started my career as a Drosophila geneticist, mutating flies to grow legs out of their heads, I never imagined at-home DNA testing. When I started my career as a science writer and textbook author, I still couldnt have predicted at-home DNA testing. Now that its here, Im thrilled that DNA science has become so much more tangible and practical. Yet we must use the information in our strings of A, C, T, and G wisely.

Ricki Lewis is the GLPs senior contributing writer focusing on gene therapy and gene editing. She has a PhD in genetics and is a genetic counselor, science writer and author of The Forever Fix: Gene Therapy and the Boy Who Saved It, the only popular book about gene therapy. BIO. Follow her at her website or Twitter @rickilewis

See the original post:
Does the 'genetics revolution' unsettle you? Here is a guide, and reasons to be hopeful - Genetic Literacy Project

Ariel Davis for BuzzFeed NewsShare on Facebook Share on Facebook Share on Pinterest Share on Pinterest Pinterest Pinterest

Genetics just got personal. So boasted the website of 23andMe in 2008, just after launching its DNA testing service.

As we entered this decade, a small cohort of companies 23andMe, its Silicon Valley neighbor Navigenics, and Icelandic competitor deCODE Genetics were selling a future of personalized medicine: Patients would hold the keys to longer and healthier lives by understanding the risks written into their DNA and working with their doctors to reduce them.

We all carry this information, and if we bring it together and democratize it, we could really change health care, 23andMe cofounder Anne Wojcicki told Time magazine when it dubbed the companys DNA test 2008s invention of the year, beating out Elon Musks Tesla Roadster.

But in reality, the 2010s would be when genetics got social. As the decade comes to a close, few of us have discussed our genes with our doctors, but millions of us have uploaded our DNA profiles to online databases to fill in the details of our family trees, explore our ethnic roots, and find people who share overlapping sequences of DNA.

Advertisement

Its become like Facebook for genes, driven by the same fundamental human desire to connect. And, as with Mark Zuckerbergs social media behemoth, this is the decade we reckoned with what it really means to hand over some of our most personal data in the process.

A 23andMe saliva collection kit for DNA testing.

It all panned out differently from the way I imagined in 2009, when I paid $985 to deCODE and $399 to 23andMe to put my DNA into the service of science journalism. (I spared my then-employer, New Scientist magazine, the $2,500 charge for the boutique service offered by Navigenics.)

I was intrigued by the potential of DNA testing for personalized medicine, but from the beginning, I was also concerned about privacy. I imagined a future in which people could steal our medical secrets by testing the DNA we leave lying around on discarded tissues and coffee cups. In 2009, a colleague and I showed that all it took to hack my genome in this way was a credit card, a private email account, a mailing address, and DNA testing companies willing to do business without asking questions.

Advertisement

Much of the rest of what I wrote about DNA testing back then reflected pushback from leading geneticists who argued that the companies visions of personalized medicine werent ready for primetime.

As I explored the reports offered by 23andMe and deCODE, I couldnt help but agree especially when deCODE wrongly concluded that I carry two copies of a variant of a gene that would give me a 40% lifetime chance of developing Alzheimers. (Luckily, it wasnt cause for panic. Id pored over my DNA in enough detail by then to know that I carry only one copy, giving me a still-elevated but much less scary lifetime risk of about 13%.)

Despite such glitches, it still seemed that medicine was where the payoffs of mainstream genetic testing were going to be. As costs to sequence the entire genome plummeted, I expected gene-testing firms to switch from using gene chips that scan hundreds of thousands of genetic markers to new sequencing technology that would allow them to record all 3 billion letters of our DNA.

So in 2012, eager to provide our readers with a preview of what was to come, New Scientist paid $999 for me to have my exome sequenced in a pilot project offered by 23andMe. This is the 1.5% of the genome that is read to make proteins and is where the variants that affect our health are most likely to lurk.

Experts at the Medical College of Wisconsin in Milwaukee analyzed my exome. While they werent at that point able to tell me much of medical significance that I didnt already know, the article I wrote from the experience in 2013 predicted a future in which doctors would routinely scour their patients genomes for potential health problems and prescribe drugs that have been specifically designed to correct the biochemical pathways concerned.

Advertisement

Im glad I included an important caveat: This may take several decades.

By then, the revolution promised by 23andMe and its competitors was faltering. Navigenics and deCODE had both been acquired by bigger companies and stopped selling DNA tests directly to the public.

23andMe, backed by the deep pockets of Google and other Silicon Valley investors, had enough cash to continue. But it fell foul of the FDA, which had decided that the company was selling medical devices that needed official approval to be put on the market. In a 2013 warning letter, the FDA said that 23andMe had failed to provide adequate evidence that its tests produced accurate results. By the end of 2013, 23andMe had stopped offering assessments of health risks to new customers.

Since then, the company has slowly clawed its way back into the business of health. In 2015, it was given FDA approval to tell customers whether they were carriers for a number of inherited diseases; in 2017, it started providing new customers with assessments of health risks once more.

I recently updated my 23andMe account, getting tested on the latest version of its chip. My results included reports on my genetic risk of experiencing 13 medical conditions. Back in 2013, there were more than 100 such reports, plus assessments of my likely responses to a couple dozen drugs.

In the lab, discovery has continued at a pace, but relatively few findings have found their way into the clinic.

Advertisement

If youve recently been pregnant, you were probably offered blood tests to tell whether your fetus had a serious genetic abnormality. And if youve been diagnosed with cancer, a biopsy may have been sequenced to look for mutations that make some drugs a good bet and other ones a bust. Neither would have been common a decade ago.

But the wider health care revolution envisaged by Wojcicki remains far off.

A few weeks ago, I saw my doctor to discuss my moderately high blood cholesterol and had a conversation that Id once predicted would be common by now. I had signed up for a project called MyGeneRank, which took my 23andMe data and calculated my genetic risk of experiencing coronary artery disease based on 57 genetic markers, identified in a 2015 study involving more than 180,000 people.

My genetic risk turns out to be fairly low. After I pulled out my phone and showed my doctor the app detailing my results, we decided to hold off on taking a statin for now, while I make an effort to improve my diet and exercise more. But it was clear from her reaction that patients dont usually show up wanting to talk about their DNA.

We have all these naysayers and an immense body of research that is not being used to help patients, said Eric Topol, director of the Scripps Research Translational Institute in La Jolla, California, which runs the MyGeneRank project.

Advertisement

Joseph James DeAngelo, the suspected "Golden State Killer," appears in court for his arraignment in Sacramento, April 27, 2018.

23andMes collision with the FDA wound up being a turning point in ways I didnt anticipate at the time. From the start, the company included an assessment of customers ancestries as part of the package. But after the FDA cracked down, it pivoted to make ancestry and finding genetic relatives its main focus. Offering the test at just $99, 23andMe went on a marketing blitz to expand its customer base competing with a new rival.

Ancestry.com launched its genome-scanning service in May 2012 and has since gone head-to-head with 23andMe through dueling TV ads and Black Friday discount deals.

DNA tests became an affordable stocking filler, as millions of customers were sold a journey of self-discovery and human connection. We were introduced to new genetic relatives. And we were told that the results might make us want to trade in our lederhosen for a kilt or connect us to distant African ancestors.

Today, Ancestrys database contains some 15 million DNA profiles; 23andMes more than 10 million. Family Tree DNA and MyHeritage, the two other main players, have about 3.5 million DNA profiles between them. And for the most dedicated family history enthusiasts, there is GEDmatch, where customers can upload DNA profiles from any of the main testing companies and look for potential relatives. It contains about 1.2 million DNA profiles.

Advertisement

So far, so much fun. But DNA testing can reveal uncomfortable truths, too. Families have been torn apart by the discovery that the man they call Dad is not the biological father of his children. Home DNA tests can also be used to show that a relative is a rapist or a killer.

That possibility burst into the public consciousness in April 2018, with the arrest of Joseph James DeAngelo, alleged to be the Golden State Killer responsible for at least 13 killings and more than 50 rapes in the 1970s and 1980s. DeAngelo was finally tracked down after DNA left at the scene of a 1980 double murder was matched to people in GEDmatch who were the killer's third or fourth cousins. Through months of painstaking work, investigators working with the genealogist Barbara Rae-Venter built family trees that converged on DeAngelo.

Genealogists had long realized that databases like GEDmatch could be used in this way, but had been wary of working with law enforcement fearing that DNA test customers would object to the idea of cops searching their DNA profiles and rummaging around in their family trees.

But the Golden State Killers crimes were so heinous that the anticipated backlash initially failed to materialize. Indeed, a May 2018 survey of more than 1,500 US adults found that 80% backed police using public genealogy databases to solve violent crimes.

Advertisement

I was very surprised with the Golden State Killer case how positive the reaction was across the board, CeCe Moore, a genealogist known for her appearances on TV, told BuzzFeed News a couple of months after DeAngelos arrest.

The new science of forensic genetic genealogy quickly became a burgeoning business, as a company in Virginia called Parabon NanoLabs, which already had access to more than 100 crime scene samples through its efforts to produce facial reconstructions from DNA, teamed up with Moore to work cold cases through genealogy.

Before long, Parabon and Moore were identifying suspected killers and rapists at the rate of about one a week. Intrigued, my editor and I decided to see how easy it would be to identify 10 BuzzFeed employees from their DNA profiles, mimicking Parabons methods. In the end, I found four through matches to their relatives DNA profiles and another two thanks to their distinctive ancestry. It was clear that genetic genealogy was already a powerful investigative tool and would only get more so as DNA databases continued to grow.

A backlash did come, however, after two developments revealed by BuzzFeed News in 2019. In January, Family Tree DNA disclosed that it had allowed the FBI to search its database for partial matches to crime-scene samples since the previous fall without telling its customers. I feel they have violated my trust, Leah Larkin, a genetic genealogist based in Livermore, California, told BuzzFeed News at the time.

Then, in May, BuzzFeed News reported that police in Centerville, Utah, had convinced Curtis Rogers, a retired Florida businessperson who cofounded GEDmatch, to breach the sites own terms and conditions, which were supposed to restrict law enforcement use to investigations of homicides or sexual assaults. That allowed Parabon to use matches in the database to identify the perpetrator of a violent assault.

Advertisement

Larkin and other genealogists condemned the move, calling it the start of a slippery slope that would see the method being used to investigate more trivial crimes.

As barbs flew between genealogists working with law enforcement and those who advocate for genetic privacy, GEDmatch responded with new terms of service that extended the definition of violent crime, but also required users to explicitly opt in for their DNA profiles to be included in law enforcement searches.

Overnight, GEDmatch became useless for criminal investigations. Since then, the number of users opting in for matching to crime-scene samples has slowly increased, and now stands at more than 200,000. But progress in cracking criminal cases has remained slow.

Now that cops have seen the power of forensic genetic genealogy, however, they dont want to let it go. In November, the New York Times revealed that a detective in Florida had obtained a warrant to search the entirety of GEDmatch, regardless of opt-ins. It seems only a matter of time before someone tries to serve a warrant to search the huge databases of 23andMe or Ancestry, which dont give cops access sparking legal battles that could go all the way to the Supreme Court.

Genetic privacy, barely mentioned as millions of us signed up to connect with family across the world and dig into our ancestral roots, is suddenly front and center.

This week, Rogers and the other cofounder of GEDmatch, John Olson, removed themselves from the heat when they sold GEDmatch to Verogen, a company in San Diego that makes equipment to sequence crime-scene DNA. Verogen CEO Brett Williams told BuzzFeed News that he sees a business opportunity in charging police for access to the database but promised to respect users privacy. Were not going to force people to opt in, he said.

Advertisement

But it isnt just whether cops can run searches against your DNA. 23andMe may not share your information with law enforcement, but customers are asked when they signed up whether if they are OK with their de-identified DNA being used for genetic research.

It might not be obvious when you fill in the consent form, but this lies at the heart of 23andMes business model. The reason the company pushed so hard to expand its database of DNA profiles is to use this data in research to develop new drugs, either by itself or by striking deals with pharmaceutical companies.

Ancestry has also asked its users to consent to participate in research, teaming up with partners that have included Calico, a Google spinoff researching ways to extend human lifespan.

You might be comfortable with all of this. You might not. You should definitely think about it because when the information is your own DNA, there really is no such thing as de-identified data.

That DNA profile is inextricably tied to your identity. It might be stripped of your name and decoupled from the credit card you used to pay for the test. But as 23andMe warns in its privacy policy: In the event of a data breach it is possible that your data could be associated with your identity, which could be used against your interests.

Advertisement

And because you share a large part of your genome with close relatives, when you put your DNA profile into a companys database, you arent only making a decision for yourself: Their privacy is on the line, too.

Whether its due to concerns about privacy, a saturated market, or just that the novelty has worn off, sales of DNA ancestry tests are slowing. Ancestry has responded by offering a new product focused on health risks. Unlike 23andMe, it requires that tests are ordered through PWNHealth, a national network of doctors and genetic counselors.

Will this be the development that takes us back to the future I once imagined? Maybe so, but if the roller coaster of the past decade has taught me anything, its to be wary about making any predictions about our genetic future.

Peter Aldhous is a Science Reporter for BuzzFeed News and is based in San Francisco.

Contact Peter Aldhous at peter.aldhous@buzzfeed.com.

Got a confidential tip? Submit it here.

Read more:
10 Years Ago, DNA Tests Were The Future Of Medicine. Now Theyre A Social Network And A Data Privacy Mess. - BuzzFeed News