Personal Genetics Company Seeks Regulatory Approval

Personal genetics company 23andMe announced it has applied for U.S. Food and Drug Administration approval for seven of its genetic tests. The company hopes that FDA approval will increase consumer confidence and interest in its tests, and ultimately feed into its goal of crowdsourcing human genetic information for medical research.

But it could be a risky move—if regulatory approval includes a requirement for a medical provider’s involvement, that could interfere with the company’s direct-to-consumer model, at least for some of its tests.

“That’s the part where we are going to have to see how it plays out,” says Linda Avey, a cofounder of 23andMe who has since left the company. The direct-to-consumer model was a founding principle of 23andMe, which emphasizes individual participation in health and medicine, says Avey.

23andMe, in which Google has invested $6.5 million, offers a genome analysis test directly to consumers, who can use the product to explore their genetic risk for everything from curly hair to Alzheimer’s disease. Although the company isn’t disclosing which particular tests it is seeking regulatory approval for, Ashley Gould, vice president for corporate development and chief legal officer, says the tests are medically relevant and examine genetic variants with disease connections that are well supported by scientific research. The company is already working on a second submission, and plans to eventually seek approval for some 100 of its 240 tests.

The company has made two other significant moves within the medical arena in recent months. In May, the company patented a genetic variant for Parkinson’s disease risk. Last month, 23andMe acquired a patient networking site called Cure Together, an online forum where users share stories of their personal experiences with disease and treatment (see “23andMe Expands Its Data-Mining Operations”). 

For $299, you can order a genetic test for every genetic trait the Silicon Valley-based company examines. Consumers receive a kit in the mail and return a saliva sample that is then analyzed for around a million variants in the genome. Some of the variants connect to harmless traits like eye color. Others have serious medical implications, such as risk for Parkinson’s disease and how an individual’s body will respond to certain drugs.

This isn’t the first time 23andMe has dealt with the FDA. In 2010, the FDA sent letters of warning to 23andMe and four other direct-to-consumer genetics companies, warning them that their genetic testing service is a medical device and thus needs regulatory approval. The FDA says it oversees direct-to-consumer genetic tests to ensure that such products are safe and effective, and to make sure that manufacturers deliver on their medical claims. “The goal is to ensure that consumers have access to accurate and reliable information that consumers can use to help better understand their own health needs and how to go about seeking additional information,” said an agency spokesperson by e-mail.

23andMe’s move to seek regulatory approval is a first for the direct-to-consumer genetics market, and is widely viewed as a necessary step forward. “I think it’s a positive move in general for the industry and the field,” says Cinnamon Bloss, a clinical psychologist at the Scripps Translational Science Institute who studies how people respond to the kind of genomic information supplied by 23andMe and others. “A central issue is going to be how [the FDA] responds to the notion of offering these tests directly to the consumer,” she says.

In the past, the FDA has stated that certain tests, such as those that will reveal whether a user is a carrier of a certain genetic disease risk, may eventually require a doctor’s involvement. In a March 2011 advisory meeting (see “The End for Direct-to-Consumer Genetic Testing?”), the FDA signaled that medical providers should be involved in tests with clinical significance, says Bloss, who presented some of her work to the committee. 

The FDA’s decision could have a far-reaching impact on the field of personal genomics. “I think it’s going to be an important moment to see how they handle these tests,” says Bloss. “It’s going to set precedent for other companies currently operating or new ones that enter this space.”

Some think it’s unlikely that the FDA would eliminate direct-to-consumer genetic tests. “I don’t see a complete shutting of the door,” says Nicholas Schork, director of Bioinformatics and Biostatistics at Scripps Translational Science Institute. “I see maybe delays, maybe exposure of issues, but ultimately, this is going to make its way into the consumer market with approval of some sort or another,” he says.  

The FDA has 90 days to review 23andMe’s initial submission, says Gould. “We fully expect we will be going back and forth, answering questions and having further discussion,” she says.  “Hopefully, it will be a collaborative process.”