23andMe submits first commercial DNA test for FDA approval

Company hopes to provide consumers with genetic data on health risks

Months after FDA warned 23andMe to stop selling genetic screening tests to consumers, the government agency has agreed to review an application for a health report that would assess users' risk of a rare, inherited blood disorder.

23andMe scientists win the world's richest prize for medicine

Background on 23andMe

The Google-backed company launched in 2006, offering the general public a chance to learn about their ancestry, genes, and genetic predispositions for health conditions through a $99 service. Consumers would send in a DNA-laden saliva sample to the company, and 23andMe would run it through a gene chip from Illumina. Then, 23andMe would send customers health reports assessing their risk for more than 200 conditions, such as cystic fibrosis or breast cancer.

But in November 2013, FDA ordered 23andMe to stop marketing its genetic testing services and scolded it for taking too long to comply with FDA rules. In its letter, FDA recounted hundreds of emails, meetings, and written directives sent to the company between July 2009 and November 2013 asking for it to provide proof that the genetic tests had been validated clinically.

Since the November letter, 23andMe stopped offering its health reports services, and instead provided only raw genetic data and ancestry information.

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"Having the FDA come and shut that down has had a significant impact on the business," 23andMe CEO Anne Wojcicki said at the South by Southwest Convention in March. "The potential for 23andme is really to massively change the way we are approaching our own health in terms of the prevention side and really change the way that we're doing research. I hope in 10 years we can have a society where people are proactively managing their health and getting information that helps them avoid disease."

23andMe's first FDA submission

The company is hoping to gain FDA approval to provide consumers with health reports on an inherited condition—the fatal Bloom syndrome. Although the condition in question is rare, gaining the agency's approval for the Bloom syndrome test could help the two organizations "establish the parameters for future submissions," according to Kathy Hibbs, chief legal and regulatory officer at 23andme.

The FDA will complete a 90-day review of the accepted submission and then it may ask 23andMe to answer more questions or fulfill more requirements.

"The submission includes robust validation data covering major components of our product such as the genotyping chip, software, and saliva kit," Hibbs wrote in a 23andMe blog post. "While we are still in the very early stages of this regulatory review process, we remain committed to transparency and keeping our customers as informed as possible. This by no means is the end of the process even for this one condition."

Wave of genetic testing creates 'patients-in-waiting'

Health experts caution that gaining any approval could take months and carry many restrictions—especially for conditions such as cancer and Alzheimer's disease. And even with approval, the agency could require the tests to go through a physician or genetic counselor first (Hof, Forbes, 6/20; Diana, InformationWeek, 6/24; Cha, Washington Post, 6/27; Sullivan, VentureBeat, 6/28).

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