On April 6, the U.S. Food and Drug Administration (FDA) changed course on genetic testing kits from 23andMe, indicating that the company can now directly tell consumers when their DNA puts them at a higher risk for 10 different diseases. The current 23andMe risk profile includes Alzheimer’s, alpha-1 antitrypsin deficiency, hereditary thrombophilia, Parkinson’s, and Gaucher’s. The FDA's turnaround is a gentler version of its original decision from 2013, which prevented the company from sharing these risks based on concerns they could be risky for consumers.
The Director of the FDA's Center for Devices and Radiological Health, Jeffrey Shuren, cautioned consumers in a statement, echoing the concerns that led to the previous ban on direct sales: “But it is important that people understand that genetic risk is just one piece of the bigger puzzle. It does not mean they will or won’t ultimately develop a disease.”
The agency also clarified that the tests, “should not be used for diagnosis or to inform treatment decisions,” but instead should be used to “help make decisions about lifestyle choices or to inform discussions with a health-care professional.”
Of course, this advice is also what 23andMe has argued since they started offering direct-to-consumer testing back in 2007. While it would be a reach to say that consumers today are knowledgeable about human genetics, it's probably safe to say that they have a familiarity with the basics — and a vested interest in becoming more informed. “The reality is customers want their genetic data,” 23andMe's co-founder and chief executive Anne Wojcicki told Forbes. “We’ve been trying to get people educated about genetic information and why it’s interesting. I think that we’re hitting a tipping point of sorts where people are really interested, and they’re beginning to recognize more and more what are the potential benefits, what can be learned and what you need to be cautious about.”
The tests require a simple saliva sample, which is then mailed back to 23andMe to be analyzed for more than 500,000 genetic variants. The company’s database contains more than one million genetic profiles, and has become a valuable resource for drug companies. According to a 23andMe blog post, the company may soon provide reports on consumers' risk for celiac disease, Factor XI deficiency, hereditary hemochromatosis, and the movement disorder primary dystonia. The current version of the test costs $199.
Other than consumers and 23andMe, the group that's happiest about this development may well be other gene-testing companies. Veritas Genetics provides complete genome sequencing for $1,000, which thus far has required an order from a doctor. However, Veritas CEO Mirza Cifric thinks this FDA decision “reopens” the direct-to-consumer data issue enough for its product, too. “We are going to drive the genome through that door,” he says.
However, the long-standing objection that opponents to the dissemination of this kind of genetic information have always had still stands: the American College of Medical Genetics and Genomics (ACMGG) and many of its members believe that without genetic counseling, consumers have trouble making distinctions between the presence of a risk and its actual meaning for them in context. ACMGG president and geneticist Michael Watson told Scientific American that the testing will confuse many consumers who won't know how to quantitatively balance genetic risk against other factors such as environmental influences, lifestyle, and health status. He also argues that consumers will probably want follow-up testing in cases where doctors wouldn't necessarily order it—and insurance companies won't pay for it (although whether this points to a consumer information problem or a larger healthcare and insurance problem we are all already coping with is debatable).
According to 23andMe, their research shows that people understand about 90 percent of the information in their reports. And while it is true that consumers don't always understand every piece of their genetic puzzles, many expert advocacy organizations such as the Rare Genomics Institute, argue that patients should have access to their own data, and that such access is actually critical to reforming the way our medical and research systems work and breaking down research data silos.
For now, 23andMe is confident that the decision is going to be valuable for their customers: “The FDA has embraced innovation and has empowered people by authorizing direct access to this information,” said 23andMe co-founder and CEO Anne Wojcicki. “It is a significant step forward for 23andMe and for the adoption of personal genetics.”