By Aaron Krol
June 20, 2014 | Today, 23andMe announced an important step toward reinstating the health reports that were until recently the major draw of its direct-to-consumer genotyping service. In a post on the 23andMe blog, the company's newly-hired chief legal and regulatory officer, Kathy Hibbs, reported that she has filed a 510(k) application to the FDA, seeking approval to tell customers about their risks for a single condition, Bloom syndrome. The move signals that 23andMe plans to take a cooperative, incremental approach to overcoming its serious regulatory hurdles, a strategy that Hibbs will be well-suited to helm, with her experience bringing genetic testing services through the traditional FDA pipeline for companies like Genomic Health. (For more about 23andMe's decision to hire Hibbs, see "23andMe Brings in New Regulatory Counsel.")
The choice to seek approval for a single-condition health report is a departure for 23andMe, which once provided risk reports covering dozens of conditions to its customers, using their genetic information to estimate their overall lifetime odds of developing chronic diseases like diabetes, cardiovascular disease, and several types of cancer. That strategy led to a huge setback for the company last November, when the FDA demanded that the reports be immediately discontinued, citing a failure to demonstrate their accuracy, a lack of engagement with the agency, and potential risks to consumers. (That last item was widely mocked by supporters of 23andMe, but the FDA appears to take it very seriously. For an overview of the FDA conflict, see "23andMe Suspends Sale of Health Tests.")
Since then, 23andMe has insisted that it still plans to bring its health reports, the cornerstone of its service, back into action as soon as possible. Joyce Tung, the company's director of research, told Bio-IT World that "the mission of the company remains on health... it's still our goal to advance biomedical research. I don't think that's changed." Internal research has continued to explore the relationship between customers' genetic variants and their self-reported health, hoping to unlock new clues about which genetic changes contribute to disease, as Bio-IT World reported in "23andMe Pursues Health Research in the Shadow of the FDA."
However, it has not been clear what tack 23andMe would take with the FDA in trying to reassure the agency that its health tests are reliable. The 510(k) process is the obvious route, as this would petition the FDA to treat 23andMe's Personal Genome Service (PGS) as a class II medical device, and not a much more strictly regulated class III device, the default for new products. However, the most contentious portions of the PGS — the risk reports for complex chronic disease, the genetic basis of which is so far only dimly understood — might well have been rejected even under the less rigorous class II standards.
By submitting a 510(k) for the Bloom syndrome test only, 23andMe is now taking a far more cautious approach to health reporting. Bloom syndrome is a very rare disease caused by a single recessive mutation, the easiest kind of genetic condition to pin down. The clinical accuracy of a test for Bloom syndrome is beyond dispute; 23andMe only needs to prove that its process is analytically accurate, showing that its laboratory procedures for analyzing DNA can correctly pick up relevant genetic variants. If that can be proved to the FDA's satisfaction, the company will be able to report health results to affected individuals and, presumably, unaffected carriers at risk of passing Bloom syndrome on to their children.
The strategy has obvious advantages. Most importantly, it will let the FDA validate the basic analytical pipeline that 23andMe uses in all its testing: the spit kits, genotyping chips, and informatics tools. This would lay a crucial foundation for any future 510(k)s submitted for additional conditions. The very modest health claim chosen for this first submission is also sure to please the FDA, showing a deference to the need for validation, and a self-awareness that carrier status for rare diseases is qualitatively different from the much more complex genetic and environmental relationships that underlie conditions like diabetes.
However, 23andMe has also put itself on a very slow path to reinstating its full service. If the Bloom syndrome test is eventually approved, there will be a clear way forward for other rare recessive disorders, and the company could easily step up the pace of submissions in this area. But very little will be resolved when it comes to common conditions, which are arguably of much greater interest to customers, because they can develop late in life, affect much larger numbers of people, and steps can be taken to prevent them. It now seems likely that 23andMe will go after these conditions one at a time, and not until its analytical process stands on firmer regulatory ground.
To its great credit, 23andMe has been diligent in keeping the public informed about its regulatory plans. "This by no means is the end of the process even for this one condition," wrote Higgs in her blog post. "We are pleased to be moving forward with the FDA and committed to our company mission of empowering individuals with their genetic information."