The FDA will allow the genetic testing company 23andMe to offer information about three common BRCA mutations that can have an influence on breast cancer risk. According to the FDA, the test should not be used as a substitute for seeing a doctor:
The Food and Drug Administration for the first time has authorized a genetic testing company to offer screenings for three breast cancer mutations common in Ashkenazi Jews, giving consumers the ability to initiate testing at home and see results without talking to a doctor or counselor.
The agency's action on Tuesday permits the testing company, 23andMe, to report results as part of its $199 Health and Ancestry product, which uses DNA from saliva samples to inform customers about their families' countries of origin, along with information on genetic health risks. There will be no extra charge for the additional reports, which should be available in a few weeks to customers who actively opt in and request to see them, company officials said.
[...] But testing negative for the three mutations does not mean someone is in the clear, as there are over a thousand BRCA mutations associated with increased cancer risk. Some critics say that comprehensive genetic testing — an exhaustive analysis to detect all mutations associated with an increase in breast cancer risk — is preferable. Physicians, geneticists and policymakers have long been concerned that the enthusiasm over personalized medical information and genetic testing may place consumers who misunderstand or misinterpret results at risk of jeopardizing their health. Even for Jews of Ashkenazi descent, whose families originated in Eastern and Central Europe and who are most likely to test positive for the three mutations, testing negative is no panacea, as they may carry other mutations that increase cancer risk.
Also at STAT News, Reuters, and The Verge.
Related: FDA Permits Marketing of 23andMe Direct-to-Consumer Genetic Test
Color Genomics Launches a $249 Genetic Test for Breast Cancer Risk
23andMe Genetic Test Relaunches, but Transparency Report Reveals Law Enforcement Data Requests
FDA to Allow 23andMe to Sell Genetic Tests for Disease Risks
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The U.S. Food and Drug Administration has authorized for marketing 23andMe’s Bloom Syndrome carrier test, a direct-to-consumer (DTC) genetic test to determine whether a healthy person has a variant in a gene that could lead to their offspring inheriting the serious disorder.
23andMe previously marketed a Personal Genome Service in the U.S. but it ceased providing direct health information to U.S. consumers after the FDA issued a 2013 Warning Letter. The letter directed the company to stop selling the product because of failure to obtain marketing clearance or approval to assure their tests were accurate, reliable and clinically meaningful.
Color Genomics has announced the sale of a $249 genetic testing kit for determining breast and ovarian cancer risk. The company will analyze samples for the BRCA1 and BRCA2 genes, as well as 17 other genetic variants associated with an increased risk of breast or ovarian cancer.
Until now, such testing has typically cost thousands of dollars. Gil says his company slashed the cost in a variety of ways, including using the latest technology to automate much of the process. The firm also recruited software engineers from leading companies, including Google and Twitter, to develop computer programs that streamline the analysis. In addition, Gil tells Shots, the company saves money by making the price so low that women don't need to get their insurance companies involved.
Critics question whether the results will provide women with reliable information, and say that ambiguous or misleading results could lead to unnecessary mastectomies and oophorectomies.
Color Genomics' website notes that men can also develop breast cancer, albeit rarely. Genetic testing of men can help them determine whether they could pass mutations in BRCA1, BRCA2 and other genes to their children. The test analyzes the following genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, and TP53.
23andMe, a consumer genetic testing company, has relaunched its Personal Genome Service, which now includes a more limited selection of test results and has received approval from the U.S. Food and Drug Administration:
The relaunched service will offer FDA-approved tests that show whether an individual carries genes associated with 36 different disorders, such as cystic fibrosis, that could be passed on to a child.
But Dr. Cecile Janssens, a professor of epidemiology at Emory University in Atlanta, said the company still is not testing for the diseases that raised the most concerns for consumers in the past. These included tests for predisposition to common diseases such as heart attack, asthma and hip fractures, for which lifestyle factors are often more important, Janssens said.
The company also does not test for high-risk genetic variants such as BRCA1 and BRCA2 for breast and ovarian cancer and APOE for Alzheimer's, and it does not include pharmacogenetic testing. 23andMe said it is still working with the FDA for approval of those additional tests.
23andMe already offers tests for inherited genetic risks and drug response in other countries such as the United Kingdom, Canada and Sweden.
23andMe revealed that it has received 4 requests for user data from U.S. law enforcement agencies in the past quarter:
Those stats came in the first "transparency report" from the company on Wednesday. At the same time, it launched a new "personal genome service" (PGS) test that it says will provide you with 60 different data points covering "health, ancestry, wellness, and personal."
The transparency report is frustratingly vague. We asked the company how it defined the term "user data" and it told us: "Any personal information relating to one of our customers, including but not limited to name, email address, health, and genetic information." It confirmed that this includes the results of the tests it carries out on your behalf. But we don't know exactly what was asked for, or under what justification.
Likewise, who is "law enforcement"? Does it include the FDA? The company told us: "We've received requests from both state and federal law enforcement organizations. Only two of the four requests were legally valid, one from the FBI and one from a state law enforcement agency." So on at least one occasion the FBI has asked for specific details on an individual. We don't know for a fact it was their DNA tests, but since that is 23andMe's sole function, it's a fair bet.
Previously: FDA Permits Marketing of 23andMe Direct-to-Consumer Genetic Test
Color Genomics Launches a $249 Genetic Test for Breast Cancer Risk
https://mobile.nytimes.com/2017/04/06/health/fda-genetic-tests-23andme.html
For the first time, the Food and Drug Administration said it would allow a company to sell genetic tests for disease risk directly to consumers, providing people with information about the likelihood that they could develop various conditions, including Parkinson's and Alzheimer's.
The move on Thursday is a turnaround for the agency, which had imposed a moratorium in 2013 on disease tests sold by the company, 23andMe, which is based in Mountain View, Calif. The decision is expected to open the floodgates for more direct-to-consumer tests for disease risks, drawing a road map for other companies to do the same thing.
If you could take such a test, would you? Or would you rather just take things as they come?
Genes have a role in empathy, study says
It helps us to make close connections with people, and influences how we behave in a range of situations, from the workplace to a party. Now scientists say empathy is not just something we develop through our upbringing and life experiences - it is also partly inherited.
A study of 46,000 people found evidence for the first time that genes have a role in how empathetic we are. And it also found that women are generally more empathetic than men.
[...] Participants in the study had their "empathy quotient" (EQ) measured with a questionnaire, and gave saliva samples for DNA testing. Scientists then looked for differences in their genes that could explain why some of us are more empathetic than others. They found that at least 10% of the differences in how empathetic people are is down to genetics.
Varun Warrier, from the University of Cambridge who led the study, said: "This is an important step towards understanding the role that genetics plays in empathy. But since only a tenth of the variation in the degree of empathy between individuals is down to genetics, it is equally important to understand the non-genetic factors."
The genomic data came from 46,861 23andMe users.
Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa (open, DOI: 10.1038/s41398-017-0082-6) (DX)
(Score: 0) by Anonymous Coward on Wednesday March 07 2018, @03:40PM (8 children)
So, uhhhh - Ashkenazi Jews. And, mutations. And, genetic testing. And, back to the "uhhh". Are they trying to say that Jews are mutants? Kinda like, but not just like, those of us from European ancestry? Dayumn. These must be more of the alt-right we're hearing about. Suddenly, Nietzsche fits in? And, uhhhh . . . who are the Übers, and who are the unders, and all that other shite? This gets complicated. Maybe I'll just read about the animal farm.
(Score: 1) by cocaine overdose on Wednesday March 07 2018, @04:03PM
Anne Wojcicki is an Ashkenazi jew.
(Score: 0) by Anonymous Coward on Wednesday March 07 2018, @04:55PM (1 child)
like how the scots have so many redheads. it's because it's all redheads banging other redheads and no dominant brunettes to mess it up
you guys need to stop banging each other
(Score: 0) by Anonymous Coward on Wednesday March 07 2018, @07:47PM
I agree, they need to let me join them.
(Score: -1, Troll) by Anonymous Coward on Wednesday March 07 2018, @05:30PM (3 children)
From the moment of fertilization mutations start occurring in every living organism. The very first cell divisions display errors. Different groups display consistent and persistent error types.
The reason genetics and Jews keep being brought up is because Jews have a shit-ton of doctors, a fetish for genetic purity (no doubt inherited from their German ancestry) and way too much money to throw around on useless genetic surveys.
On a side-note, fun fact to troll the alt-right folks: Ashkenazi Jews have more German in them then the Brits. Really, there's like 30% German in the English and 40-60% (depends on the study) German in the western Ashkenazi Jews. Southern Ashkenazi Jews have a little less... In favor of Italian/Greek.
(Score: 2) by Arik on Wednesday March 07 2018, @07:51PM
Well, that's true for a very attenuated definition of "German" by which many actual "germans" would not be considered "German." By that standard, the most "German" nation is Poland IIRC.
That's one of the problems with these tests, everyone wants to read way more into the genes than are there, very much including the company promoting it. Way to much weight inevitably winds up being placed on structures that look good to the uninformed eye, but collapse under load. There is no "German gene." And somatic DNA is not a reliable indicator of deep ancestry, no matter how much you massage it and paint it up with marketing slogants.
If laughter is the best medicine, who are the best doctors?
(Score: 1) by milsorgen on Wednesday March 07 2018, @10:39PM (1 child)
Why would anyone give two thoughts to the amount of "German" Brits might have in them? What an odd thing to say really.
On the Oregon Coast, born and raised, On the beach is where I spent most of my days...
(Score: 0) by Anonymous Coward on Thursday March 08 2018, @01:32AM
Got any Irish in ya? Ya want some? Nudge, nudge, wink, wink!
(Score: 2) by HiThere on Wednesday March 07 2018, @07:18PM
FWIW, everyone is a mutant. Without known exceptions. In fact, it's almost certain that everyone has several cells that have mutated from the genetic code they started with.
I believe the average is (from Wikipedia, generated by a Google search):
Using data available from whole genome sequencing, the human genome mutation rate is similarly estimated to be ~1.1×10−8 per site per generation. The rate for other forms of mutation also differs greatly from point mutations.
And you've got to realize that each human has a huge number of sites on their genetic code. You can't be precise, since even the number of sites differs from person to person. (Also, I'm not sure whether by site they mean nucleotide base pair or triplet code, which would have a higher mutation rate, but there'd be only about 1/3 as many.)
Javascript is what you use to allow unknown third parties to run software you have no idea about on your computer.
(Score: 0) by Anonymous Coward on Wednesday March 07 2018, @04:24PM
"According to the FDA, the test should not be used as a substitute for seeing a doctor:"
stfu!
(Score: 2) by fyngyrz on Wednesday March 07 2018, @05:06PM
Correlation is not causation in such a circumstance.
But there's little to complain about here; people are still using astrology, religion and other superstition to make health and life decisions. If the information is accurate (by which I mean the markers are valid, and the test doesn't falsely detect the markers, or miss them if they are there) then for someone who is carefully gathering relevant information, this is a good-ish bit to collect. If they're already one of the befuddled, not much you can do to fix that. Not yet, anyway – that DNA fix is still a ways down the road. Although I always did tell my kids, "don't breed with idiots, no matter how cute they are."
(Score: 1, Interesting) by Anonymous Coward on Wednesday March 07 2018, @05:52PM (2 children)
Why are amerimutts so obsessed with genomics?
(Score: 0) by Anonymous Coward on Wednesday March 07 2018, @06:16PM
they aren't
google is. and the marketing tries to make it look cool. you can call them alphabet but it doesnt make them any less evil.
sure there are people that are OK selling out their genetic code to valued business partners so that they can be personally identified for advertising based on what diseases you may have. Insurance companies are their #2 customer, after the #1 customer of those people that don't realize the trouble they can get themselves into by allowing the sharing of that info
(Score: 0) by Anonymous Coward on Wednesday March 07 2018, @09:08PM
Besides Google, there are also the Mormons that have made it their business to track ancestry.
(Score: 2) by realDonaldTrump on Wednesday March 07 2018, @09:14PM
"The question, 'A few people in my family have had breast cancer. Should I get genetic testing?' was answered by Megan Frone, certified genetic counselor, National Cancer Institute in Bethesda, Maryland." foxnews.com/health/2017/10/11/should-get-genetic-testing-for-breast-cancer-gene.html [foxnews.com]
(Score: 0) by Anonymous Coward on Wednesday March 07 2018, @09:30PM
re: de-identify / re-identify
https://en.wikipedia.org/wiki/Genetic_privacy#In_the_United_States [wikipedia.org]
(Score: 0) by Anonymous Coward on Thursday March 08 2018, @12:31PM
... so, if 23AndMe isn't snake oil any more, what part of the snake is it now?