The US Food and Drug Administration has sent a letter to 23andme, one of the companies that will genotype you and provide lots of information from the sample, telling them to stop. It’s a tricky situation.
This product is a device within the meaning of section 201(h) of the FD&C Act, 21 U.S.C. 321(h), because it is 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. For example, your company’s website at www.23andme.com/health (most recently viewed on November 6, 2013) markets the PGS for providing “health reports on 254 diseases and conditions,” including categories such as “carrier status,” “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. Most of the intended uses for PGS listed on your website, a list that has grown over time, are medical device uses under section 201(h) of the FD&C Act. Most of these uses have not been classified and thus require premarket approval or de novo classification, as FDA has explained to you on numerous occasions.
On the one hand, I can’t see any valid social interest in stopping people from knowing their genotypes if they want to. On the other hand, the FDA has a point about marketing.
They raise two isssues. The first is that 23andme make lots of (fairly weakly supported) claims about the usefulness of the results in disease prevention. The second is that some of the genotype information is actually clinically relevant and that they have not demonstrated sufficient accuracy in their results. The first issue is essentially a misleading advertising problem; the second is a quality assurance problem.
There are two things that can go wrong with the clinically useful results. The first is simple error: the genotype assay could give the wrong result, or you could be given results from someone else’s sample. This should be low probability, but it’s important to know how low — 1 in a 1000 would definitely be too high.
The second issue is interpretation. Suppose you have a lot of family members with breast cancer, and you suspect a BRCA1 mutation is responsible. You might be relieved if you test negative, and think your risk isn’t especially high, but that’s only a reliable conclusion if your family’s cancer risk was actually due to a BRCA1 mutation, not to some other genetic risk factor.
Update: I should probably note that 23andme could fix what I think are the actual problems, but this wouldn’t necessarily satisify the FDA. The FDA aren’t currently being unreasonable oppressive Luddite statist bureaucrats, but they’re probably happy to be to if that’s the option on offer.