On February 19, the FDA permitted the marketing of 23andMe’s direct-to-consumer genetic carrier test for Bloom Syndrome. 23andMe is a genetic testing company based in Silicon Valley and backed by Google. This development is exciting for 23andMe because the company was banned from marketing its Personal Genome Service after a 2013 warning letter halted the service. The company has said that more than 850,000 people have used its service, which costs $99. After the FDA’s ban on their health-related product, 23andMe continued to sell ancestry related information and signed deals with Pfizer and Genentech to allow access to their research.
The FDA feared that 23andMe’s health-related genetic tests were an unapproved medical device and that “consumers might receive faulty information and make bad medical decisions as a result.” The test the company is allowed to market now is not the same test as the Personal Genome Service—which tested for a broad array of genetic tests “ranging from rare syndromes to cystic fibrosis and hereditary breast and ovarian cancer; predictive genetic tests for common diseases[;] and pharmacogenetic tests for drug responses and adverse drug reactions.”
Bloom’s Syndrome was likely to pass authorization by the FDA because it “is well known that mutations in the BLM genes cause the disorder, according to the agency.” 23andMe submitted numerous studies to prove the accuracy of the test, including a user comprehension study and a validation study of more than 2800 samples. Bloom Syndrome, affecting about 1 in 50,000, is more common in the Ashkenazi Jew population. The syndrome is “characterized by short stature, skin redness, distinctive facial features[,] and increased susceptibility to cancer.” This test would be “administered to prospective parents to see if they carry mutations that could cause a rare disorder . . . in their children.”
Although approval for a test like Bloom Syndrome is exciting, this clearance does not offer much guidance for more complicated disease predisposition tests like breast cancer and Alzheimer’s. At the same time, the FDA indicated that, “in general such so-called carrier tests would no longer need to be approved in advance before being marketed.” This regulatory shift indicates that the FDA supports direct access for consumers to their genetic information—at least in some cases.
This is a major milestone for our company and for consumers who want direct access to genetic testing,” said Anne Wojcicki, 23andMe CEO and co-founder. “We have more work to do, but we remain committed to pursuing a regulatory path for additional tests and bringing the health reports back to the US market.
Although it is unclear exactly when 23andMe will start putting its genetic tests back on the market, it is likely it would be this year.
The big question is what this development means for the rest of the genomics industry—for companies that do DNA sequencing, which reads all of a person’s genetic material rather than testing specific genetic markers like 23andMe’s tests do.