23andMe: Victim of an Overboard FDA Crackdown, or Provocateur?


Last Friday, the Food and Drug Administration issued a warning letter to the direct-to-consumer genetic testing company 23andMe ordering it to stop marketing its Personal Genome Service.

According to the FDA, the 23andMe genetic test is a medical device, and subject to intense regulation before it can be marketed, 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.” The FDA’s letter goes on to describe the many instances on the company’s website that refer to 23andMe’s test in terms of diagnostic value.

The FDA’s stated concern is the potential for false positive results, for which they describe dire scenarios that could be taken, as in the case of a false BRCA1 test—which might encourage a woman to erroneously have a preventive mastectomy to avoid cancer. A fact worth noting is that the FDA failed to cite any real examples where an individual harmed him or herself with unconfirmed knowledge of genetic information.  The FDA’s stated action was prompted by 23andMe’s failure to clinically validate tests—that is, to show that the genetic irregularities it sees are meaningfully predictive of a person’s future health outcomes.

The regulatory action comes at a crucial time for 23andMe. The company has unveiled a new direct-to-consumer (DTC) marketing campaign, with expanded indications, and use of TV commercials to increase their consumer base to a goal of 1 million users.

Without a doubt, the FDA’s action has already prompted a lively debate. 23andMe has issued a short 53-word statement on its website and the company’s Facebook page that it has received the letter, understand it has not met the FDA’s expectations regarding timeline and communication, and is committed to working with the FDA. Within four hours of 23andMe’s post, 217 comments were received on the company’s Facebook fan page.

The vast majority of commenters, not surprisingly, are supportive of the company and critical of the FDA. Many commenters focused on general distrust with big business (something 23andMe aspires to become) and government. Many others spoke of a desire to be able get their personal genetic information, and others expressed absolute confidence in the results they obtained. Many fewer comments were favorable toward the FDA. Some understood the need to validate diagnostic tests, a few tried to explain the differences between screening and diagnostics, and a few more observed that some of the level of dialogue demonstrated a need for regulation. The biggest concern was by those who recently signed up, and wanted to know if they would get their test results. If you add up all of the likes, shares, and replies, thousands of consumers are interested and engaged.

Of course Twitter was buzzing too, but mostly on stating there was news. A few comments mentioned that 23andMe brought this on itself by going to the FDA in the first place. Thus far, no substantiated stories have appeared that validate the FDA’s alarmist scenarios cited in their letter.

So, is this good policy or an example of regulatory overreach? 23andMe performs their genotyping test using a well-characterized platform (the Illumina HumanOmniExpress chip) in a CLIA-certified laboratory. The 23andMe results meet the standards of any other laboratory-developed test. This weakens the FDA’s main argument that there’s a risk in 23andMe calling genetic alleles (a type of variation) incorrectly. 23andMe’s fundamental difference when compared to the many hundreds of laboratories performing genetic tests is that they are going directly to consumers rather than through the health care establishment. Unlike clinical laboratories, however, they approached the FDA, had numerous meetings, and then stopped talking.

Did the FDA overreach? Or, is 23andMe playing out a brilliant cat and mouse strategy to increase public awareness and support of consumer genetic testing? Because genetic tests are broad in scope and complex in detail, a single test provides thousands of results. The real issue is that the vast majority of “diagnostic” alleles have not been validated for their utility as biomarkers for a disease or therapeutic protocol in a clinical trial. An example, cited in the FDA letter, was related to warfarin dosing based on “false genotyping results” that could have “significant unreasonable risk of illness, injury, or death to the patient due to thrombosis or bleeding events” because of improper dosing.

This was a particularly poor example because the benefit of genotype-guided warfarin dosing remains unclear, even after several trials. So, the question here is not whether an allele is reported correctly as much as does it have the effect we think it does. In short, genetic tests can be interpreted with variable results because our knowledge of the relationship between genetic differences and the mechanisms of disease are incomplete. Filling in this knowledge requires that millions of individuals have their DNA analyzed.

23andMe is bringing value in terms of increasing public awareness and increasing participation. The FDA has legitimate issues with the company’s tendency to overstate the diagnostic potential of the tests. The argument of incorrect results is flawed, but the underlying issue of misinterpreting results due to a lack of scientific rigor was missed or not discussed, at least partly because it affects a major portion of the clinical testing industry. This latter point could be an opportunity for 23andMe.

In the current flurry of headlines, the 23andMe business model has escaped notice. When you sign up for their service, you give 23andMe rights to use your data anyway they see fit. You can have your data, which satisfies the personal genomics folks, but not that of the others who have signed up, unless they specifically share with you. Many interpret this activity as data sharing. It is not. 23andMe has all the data, you get to see a little. If the company opened their data to the research community they could truly make real advances and possibly turn this setback into a new opportunity.

Todd Smith is Director of Customer Development at Digital World Biology where he leads business development and consulting engagements. Follow @

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