The...[FDA] seemed most concerned about a test for mutations that indicate a woman would have a very high risk of getting breast cancer. It said a false positive on such a test could lead to an unnecessary preventive mastectomy. Scott R. Diehl, director of the center for pharmacogenomics at Rutgers, welcomed the F.D.A. action. He said tests for breast cancer risk and drug side effects required guidance from doctors and genetic counselors, and “really have no place” being offered directly to consumers. But Misha Angrist, an assistant professor at the Institute for Genome Sciences and Policy at Duke, said that with DNA sequencing becoming cheaper and easier, the F.D.A. would ultimately fail in keeping people from having access to their own genetic information. “Is the only pathway for me to get access to the contents of my cells via some guy in a white coat?” he said. “F.D.A. clearly thinks the answer is yes. I find that disappointing and shortsighted and naïve.”Dr. Angrist said it was “borderline absurd” to think someone was going to get a mastectomy based on a $99 test, without follow-up.
I have personally ordered the test battery from 23andMe. For $99, the consumer receives some 200 test results. Some of them are trivial such as whether your hair is likely curly and others are highly significant such as the possibility of cystic fibrosis or breast cancer. SNPs (see: Single-nucleotide polymorphism ) are usually being analyzed to generate these results but such an approach can't reveal all of the complex information at a genetic locus like BRCA1/BRCA2 that are defined by multiple base pairs. The company thus offers what I would describe as broad genetic screening for which there will be both false negatives and false positives like with all lab testing. Here's a key passage from a blog note about the complexity of genetic testing by Michael Eisen who is an advocate for open access to science and who also serves as a member of the scientific advisory board of 23andMe (see: FDA vs. 23andMe: How do we want genetic testing to be regulated? ):
If genetics were simple and our understanding of it were complete, companies could provide accurate reports that say “based on your genotype, your age and personal history, you have a 7.42% chance of developing ovarian cancer in the next 10 years.” However, we are far, far, far away from this....The data are, at this point in time, very very messy. I don’t think anyone disagrees with that. The question is what to do about that. One the one side you have people who argue that the data are so messy, of so little practical value, and so prone to misinterpretation by a population poorly trained in modern genetics that we should not allow the information to be disseminated. I am not in this camp. But I do think we have to figure out a way for companies that provide this kind of information to be effectively regulated. The challenge is to come up with a regulatory framework that recognizes the fact that this information is – at least for now – intrinsically fuzzy.
The immediate question at hand is whether the FDA will be able to work with 23andMe to "develop a regulatory framework" for conveying fuzzy but complex data to consumers and functioning as a clinical lab. In my opinion, the answer to this question is no. The agency is rigid, bureaucratic, and terrified of mistakes that will show up in the news and embarrass the government. The agency has been quite opaque when dealing with experts in the field such as in digital pathology as a result of which it has brought an entire industry to a standstill for the lack of an effective dialogue. Here's some more reading on this same topic with some other ideas and opinions: THE F.D.A. VS. PERSONAL GENETIC TESTING ; Why The FDA Can't Be Flexible With 23andMe, By Law . I will post more notes about this dispute as it evolves.
I think that 23andMe needs to try to negotiate with the FDA to develop a a solution whereby the company's reports to consumers do not fall under the agency's definition of a medical device. Such negotiations will be very difficult because the agency has been aggressively expanding its regulatory authority rather than seeking to diminish it. In the end, I suspect that 23andMe will need to print a strong warning label on its reports to the effect that the test results have little medical significance and must not be used to make any important diagnostic or treatment decisions by consumers without confirmation by a CLIA-certified lab and a qualified physician. I don't think that such a warning will hurt its business and consumers will continue to have access to interesting and useful genetic screening test results.