A blow for personal genome testing

Hey honey–remember when I accidentally left the chicken coop open and they all flew away? Well I think they’ve come back home to roost!

Last summer, we did an analysis of the 23andMe commercial promoting their genetic testing service and the egotistical identity politics it both taps into and contributes to. The ad was all about how your genes were “You” and knowing about them would enable you to predict your genetic future. Genetic profiling can in some cases give robust statistical estimates of likelihood of certain genetic conditions, but it is safe to say that we rarely know what that means. And it’s presented as though we do.

Now we find that FDA is ordering 23andMe to stop marketing their tests.

The 23andMe saliva sample kit, says FDA, is a “medical device,” “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body.

They cite the company’s claims to allow patients’ genome profiles to help them assess “health risks,” and “drug response,” and specifically as a “first step in prevention” that enables users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer.


This is not a shot over the bow–it’s the last straw. FDA has warned 23andMe repeatedly, going back to July, 2012, that they were making health claims about their product that they couldn’t back up.

The company offers two types of products: a genealogical “panel” or profile, and a health panel. The genealogical panel is popular but is apparently considered a harmless hobby, or at least outside the purview of the Public Health Service. It is not clear whether FDA (which, like the National Institutes of Health and the Centers for Disease Control) falls under the sprawling PHS will have any concerns about genealogical applications of the saliva test, but that would seem unlikely. The problem for 23andMe is that, as shown by the ad we analyzed earlier, they have been pushing the health panel very hard. Family trees are a hobby; health is where the real money is.

Direct-to-consumer medicine trails an appealing democratic, anti-authoritarian perfume that seems to make people slightly drunk. Mild intoxication can be pleasant, need not be dangerous, and sometimes can be a spur to creativity. But it can also impair your judgment. When you’ve gotta drive the kids home, you may need a couple cups of good strong regulatory coffee and a couple hours to sober up before getting behind the wheel.

A good deal of “preventive, participatory, personalized” medicine is profit-driven, and stockholders don’t necessarily have the public’s health foremost in mind. The FDA warning is a good illustration of why it’s important to balance the goal of stimulating innovation and economic growth with the goal of maximizing health. For the former, the free market can be a powerful tool. But for the latter, sometimes you need a little good old-fashioned meritocratic oversight.

h/t Robert Resta, Mark Largent


12 thoughts on “A blow for personal genome testing”

  1. But wait — right before the holidays? I was holding out for one of those Black Friday “buy one health panel, get one free” kind of deals. Can’t we, like, slap a black box warning on there and get back to our mildly intoxicated, anti-authoritarian, seemingly more health-informed lives? The FDA really does have a poor sense of timing.

  2. Also, I should probably follow up my previous, sarcasm-laced comment and express my genuine enthusiasm for the FDA’s decision here. I’m curious to see how the company copes with the recommendation. Thanks for sharing your thoughts!

  3. But wait! There’s more! Act now and get our “measures of intelligence” panel for just $4.99! It normally retails for $8.99, so that’s more than half off! But you already knew that, didn’t you, because your quantitative reasoning is off the charts! Don’t delay, spit today!

  4. Although 23andMe tries to sell the viewpoint that they are putting DNA knowledge back in the hands of the people who own it (a philosophy which has its merits), the problem is that the knowledge they provide is of extremely limited clinical value. With very few exceptions, the risks that SNPs provide cannot – and should not – be used to reliably guide your medical care (other than saying you should eat healthier and exercise more). The medically untrained but bright and inquisitive public should be protected from testing services that make misleading, inaccurate, or inappropriate claims about the medical value of a test. If you want to go out and get DNA testing on your own, you have a right to high quality, well-vetted, clinically useful information, not a sales pitch. The FDA move is not an act against public access to their DNA; it is an act to assure that the public has access to reliable information about their DNA.

    Incidentally, a misconception I have heard frequently from people how have undergone the 23andMe test is that they “had their DNA sequenced.” In fact, the test is not a DNA sequencing test, and more than 99% of your exome (i.e., the business or coding part of your genome) is NOT sequenced by the test.

    • Well said! It is not an action against access; it is an action against hype.

      And thanks for pointing out the “sequencing” misconception. Another one that irks me is calling the 23andMe product a “test.” The company does so itself, and it’s widely cited as such. Wouldn’t you, as a genetic counselor, agree that the product should be called something like a “profile”?

  5. I think the word test has a broad enough range of meaning and usage that it is acceptable to use in this context. What I think you are getting at though, and what I think is a good point, is that SNPs are rarely diagnostic of any medical condition. So, sensu strictu, SNPs do not “test” for a condition. Better terms might be profile or risk profile or risk assessment , since they more accurately reflect the naure of the information provided. Or really, if you want to be honest, Partial Risk Assessment is a better description, since non-genetic factors make important contributions to disease risk.

    Using the word “test” might subconsciously lead one to think that the the results are diagnostic for a condition. Sales pitches work on levels that we cannot even recognize. A similar situaton has evolved with the new assays for using circulating fetal DNA in maternal serum to predict the risk of Down syndrome and other aneuploidies during pregnancy. Some labs initially called the testing NIPD (non-invasive prenatal diagnosis). In fact, it is a screening test, not a diagnostic test, so NIPS (non-invasive prenatal screening) is the more appropriate term.

    The same could be said of BRCA analysis by any lab. Carrying a BRCA mutation does not mean you have breast or ovarian cancer; the results indicate only that you are at higher risk of developing these cancers. But most of us don’t have too much of a problem with calling it a BRCA test. Of course, the days of single gene tests for assessing cancer risk like BRCA will soon be a memory; multi-gene panels that simultaneously sequence 20, 30, or 50 genes linked to cancer risk are rapidly becoming the new norm.

  6. I agree that profile is the better term, because they present you with a panel of results stating probabilities not only of a single complex disease but of various traits, some of which are risks (i.e., carry negative connotations).

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  9. DNA profiling is actually a good thing because it can help to determine the exact problem of a person like parents can be tested to determine if they carry genes that are responsible for certain conditions that may be present in other family members. It can also help to know exactly what needs to be treated in a person. But disadvantages needs to be considered also like there can be incomplete coverage which can lead to false results.

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