The genetic testing company 23andMe can now tell its customers if they have genes linked to 10 diseases or medical conditions, including late-onset Alzheimer’s disease, Parkinson’s disease, and celiac disease — without a doctor’s involvement. The company’s DNA analysis service is the first direct-to-consumer test to receive approval from the US Food and Drug Administration, the FDA announced today. The decision could make it easier for similar direct-to-consumer DNA testing services to enter the market in the future.
The genetic health risks revealed by the 23andMe’s DNA kits, however, can’t determine whether or not a person will definitely develop a disease or condition — at least in part because not all genes associated with certain diseases are known, and because environment plays a role. While the information can be used to help people make decisions about their lifestyles or inform discussions with health care providers, it should not be used to take drastic actions, the FDA says. (A false positive for a certain condition, for example, could lead patients to undergo useless preventive surgeries, or unnecessary screening.)
“Consumers can now have direct access to certain genetic risk information,” Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health, said in a statement. “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.” In fact, there are many other factors — like environmental and lifestyle factors — that contribute to the development of certain health conditions or diseases.
Similar concerns were actually raised by the FDA a little over three years ago, when the agency ordered 23andMe to halt sales of its DNA test kits. At the time, the FDA said it feared that the genetic info would encourage patients to seek procedures they didn’t need, or stop taking certain medications. The FDA also barred the company from offering health reports, because 23andMe had failed to prove that the risk analysis tied to its genetic tests was accurate.
Since then, 23andMe has worked with the FDA to get approval. In 2015, the company began offering a limited test for the markers of a rare genetic condition called Bloom Syndrome, which increases cancer risks and makes people with the syndrome very sensitive to sunlight. It also began offering information to customers about their "carrier status" — the ability to pass conditions on to children — of 36 diseases and medical conditions, including sickle cell anemia and cystic fibrosis. Today, the company’s at-home tests for medical conditions are back.
“This is an important moment for people who want to know their genetic health risks and be more proactive about their health,” Anne Wojcicki, 23andMe CEO and co-founder, said in a statement. “The FDA has embraced innovation and has empowered individuals by authorizing direct access to this information. It is a significant step forward for 23andMe and for the adoption of personal genetics.”
23andMe takes saliva samples and tests a customer’s DNA for hundreds of thousands of genetic variants. The presence or absence of certain variants is associated with an increased risk for developing certain diseases, and customers will now be informed if they have a genetic risk for 10 disease or conditions. These include celiac disease, or the inability to digest gluten; late-onset Alzheimer’s disease, a disorder that destroys memory and thinking skills; Parkinson’s disease, a nervous system disorder impacting movement; and other blood and organ disorders. The company’s roster of investors include Google Ventures.
To get this latest approval, 23andMe had to conduct “user comprehension testing” to prove that its costumers understand what the genetic health risks provided by its kits actually mean, Rachel Reichblum, a spokesperson for 23andMe, wrote in an email to The Verge. The test showed that people using the DNA analysis service understood more than 90 percent of the information presented in the reports, the FDA says. The company also submitted studies proving that its DNA tests “correctly and consistently” identified variants associated with the 10 diseases and conditions.
The FDA also announced that it will exempt 23andMe from undergoing additional review every time the company wants to release new genetic health risk reports. The agency is planning on applying the same exemption to other direct-to-consumer genetic testing companies, after those companies submit their first premarket notification. “A proposed exemption of this kind would allow other, similar tests to enter the market as quickly as possible and in the least burdensome way, after a one-time FDA review,” the agency wrote in a press release.
It’s not clear when such an exemption would go into place, FDA spokesperson Tara Goodin tells The Verge. “It’s something the FDA is working on,” she says.