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.
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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
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
(Score: 4, Disagree) by frojack on Monday February 23 2015, @03:57AM
Why would this even require approval?
Why can you sell so-called supplements that you put into your body with no FDA oversight, but a test you that never enters the body has to be approved?
Worst case these things spit up totally bogus results. Wouldn't the market find that out in short order?
Its not a food or a drug or dangerous device.
No, you are mistaken. I've always had this sig.
(Score: 3, Informative) by kaszz on Monday February 23 2015, @04:17AM
How would FDA get their extras unless someone makes "donations" to the system and offers future job opportunities.
(Score: 5, Insightful) by gnuman on Monday February 23 2015, @04:24AM
Worst case these things spit up totally bogus results. Wouldn't the market find that out in short order?
There is a good reason for regulation in the health sector. Regular people as well as medical people (like doctors) rely on validity of medical tests to decide how to proceed. These can be life and death decisions. It's not up to the "market" to decide that Test A for LDL cholesterol is more accurate than Test B for LDL cholesterol. It's up to the creators of the test to show that these tests indeed are accurate via scientific method. If that wasn't the case, how would doctors know which test to use if there were 10,000 different ones on the market and most just bogus crap?
"Hmm, your blood protein creatinine levels indicate your diet in high protein could be killing you. You probably require emergency dialysis. Or maybe it's just a faulty test so we'll just wait and see if you die in the next day or two to be sure."
"Your genetic test indicates you have 99% chance of getting highly deadly breast or ovarian cancer. These should be removed to prevent your death in next 10 years" ... 1 year after operation ... "Oh, the test was bogus. But don't worry, the company went bankrupt so market taught it a lesson!"
(Score: 2) by frojack on Monday February 23 2015, @06:21AM
Genetic over the counter tests would not be sufficient for an operation. For that you go to a hospital, and they run an entire battery of tests. Thats when they find out the OTC test is revealed as a phony.
Because, you see, that's how it actually happens. People don't get operations based on OTC tests. Doctors don't rely on OTC tests.
So again, I ask, just why is the FDA so worried about an OTC test? Why don't they inspect all the supplements that are filled full of false ingredients? People actually eat those!
No, you are mistaken. I've always had this sig.
(Score: 0) by Anonymous Coward on Monday February 23 2015, @07:04AM
http://well.blogs.nytimes.com/2015/02/03/new-york-attorney-general-targets-supplements-at-major-retailers/ [nytimes.com]
More can be found here: http://www.law.umaryland.edu/marshall/crsreports/crsdocuments/R43062_11132012.pdf [umaryland.edu]
(Score: 1) by Pherenikos on Monday February 23 2015, @11:33AM
And if you would rather find out more in comedic form here is John Oliver on Last Week Tonight discussing the issue. https://www.youtube.com/watch?v=WA0wKeokWUU [youtube.com]
(Score: 2) by Justin Case on Monday February 23 2015, @10:56AM
> Regular people as well as medical people (like doctors) rely on validity of medical tests to decide how to proceed.
So when you are about to "decide how to proceed" you shop for the test with the "certified by the FDA" label. The rest of the time you should be free to choose whatever test you want.
I wanted to take the 23andMe test just out of curiosity. And who knows, I might have learned something useful. Or life saving.
The FDA has killed thousands of people by withholding essential treatments that weren't yet approved. Yaaay for our all-knowing government protectors! Whose life is it anyway?
(Score: 1, Insightful) by Anonymous Coward on Monday February 23 2015, @06:35PM
How many thousands has the FDA saved by withholding dangerous treatments that were not able to meet the standards of approval?
(Score: 2) by HiThere on Monday February 23 2015, @09:00PM
It works *both* ways. It's quite reasonable to prohibit (unacknowledgedly) dangerous tests/products. The 23andMe test wasn't either, it was just noisy. And difficult to interpret. It was quite reasonable for the FDA not to approve it, but not reasonable for it to prohibit it. You need the middle ground.
Javascript is what you use to allow unknown third parties to run software you have no idea about on your computer.
(Score: 2) by Justin Case on Tuesday February 24 2015, @12:26AM
> How many thousands has the FDA saved
Irrelevant. Perhaps you missed my question "Whose life is it anyway?"
Probably you think everyone's life belongs to the all knowing Government and as long as they save more than they kill, it's all good.
If so, you're a bootlicker and I hope you enjoy your stay in a concentration camp before you go to the ovens.
As a non-bootlicker, nobody else owns me. I know my situation better than the bureaucrats and control freaks like you. I will decide when to play it safe and when to take an informed risk. If something is "approved by FDA" or "warning dangerous per FDA tests" I can take that into account. But the final choice should be mine. After all, I'm the one who is going to reap the outcome, better or worse.
(Score: 1, Insightful) by Anonymous Coward on Monday February 23 2015, @05:44AM
It requires approval because 23andMe's marketing was starting to make some bold claims about the test's applicability to health. Genetic analysis is still very new, and even though 23andMe's test could give you insight into genetic disorders and predispositions, it's very easy to mislead the customer about what the test does and does not show. The previous Soylent story about the epigenome should make it clear that we are in the dark ages of genomics.
(Score: 2) by fadrian on Monday February 23 2015, @04:58PM
Why would this even require approval?
There are these little things called "laws". Maybe you've heard of them? They tend to be useful in some cases, less so in others. In this case, the FDA is allowed to regulate the use of medical tests as many are invasive, can be harmful if misdone, etc. However, soft lines make hard cases which is why lines are drawn fairly rigidly. Regardless of the safety involved, 23 and Me, is selling a medical test and, as such, needs to be regulated.
The fact that should have had the users inflamed is that 23 and ME cannot actually say in their evaluation that the certain genes are markers for particular ailments because the gene itself is patented by another medical vendor.
That is all.
(Score: 2) by frojack on Monday February 23 2015, @08:11PM
the gene itself is patented by another medical vendor.
Those patents were all struck down.
No, you are mistaken. I've always had this sig.
(Score: 0) by Anonymous Coward on Monday February 23 2015, @06:40PM
I thought part of the problem was the lack of genetic counseling. Anyone know anything about that?