23andMe, a genetic testing startup that captured the national imagination a decade ago, appears to have fully emerged from the wilderness. The Food and Drug Administration has cleared the startup to market $199 genetic tests that will tell consumers not whether they have a condition like Parkinson’s or Alzheimer’s, but how likely they might be to get it.
In November 2013, 23andMe provided people who purchased its test kits, spit in a vial and mailed it in information on 254 health conditions. Then the FDA required the company to withdraw all its tests for genetic risks related to health from the market because the company had not established the efficacy of its tests and had gone silent on regulators. In February 2015, the FDA cleared 23andMe to provide consumers with information about genes they might carry that might affect their future children. But the bar was lifted even further today, particularly because the FDA says it intends to grant 23andMe and exemption that will allow it to introduce new tests far more easily.
“The reality is customers want their genetic data,” says Anne Wojcicki, 23andMe’s co-founder and chief executive. “The 11 years since our launch have been a slog. 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.”
Experts had mixed responses to the decision. George Demetri, director of the Center for Sarcoma and Bone Oncology at the Dana-Farber Cancer Institute, praised the FDA for “thinking ahead and accelerating progress” in a tweet. Anirban Maitra, scientific director of the Ahmed Center for Pancreatic Cancer at M.D. Anderson Cancer Center, tweeted, “The potential for quackery & snake oil salesmanship this will result in is mind boggling.”
“It could be worse,” says Hank Greely, director of the Center for Law and the Biosciences. “It might not be a bad thing. I’m not enthusiastic. I’m not convinced this will improve Americans’ health or make consumers better off. But I’m not convinced that it won’t.”
One reality is that the science around such tests has changed since the FDA’s original action, which was caused as much by 23andMe’s clumsy refusal to respond to the FDA’s queries as by the science. “Since that whole debacle at the FDA, many genetic risk scores have been published, in top-tier journals,” says Eric Topol, director of the Scripps Translational Research Institute in La Jolla, Calif. “This whole idea of genomic risk for common diseases is a real deal. I think 23andMe and other companies provide information and education; I think that’s a good public service.”
The new FDA approval will allow 23andMe to tell consumers about their risk for 10 conditions. This won’t tell a person whether they have a disease, but whether they are at risk of getting it. Do they had a 20% risk of Alzheimer’s? Do they have an 80% risk? And what do they do with that information?
The disorders that will be included in the test are, verbatim from the FDA press release:
- Parkinson’s disease, a nervous system disorder impacting movement
- Late-onset Alzheimer’s disease, a progressive brain disorder that destroys memory and thinking skills
- Celiac disease, a disorder resulting in the inability to digest gluten
- Alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease
- Early-onset primary dystonia, a movement disorder involving involuntary muscle contractions and other uncontrolled movements
- Factor XI deficiency, a blood clotting disorder
- Gaucher disease type 1, an organ and tissue disorder
- Glucose-6-Phosphate Dehydrogenase deficiency, also known as G6PD, a red blood cell condition
- Hereditary hemochromatosis, an iron overload disorder
- Hereditary thrombophilia, a blood clot disorder
That’s still a far cry from the 254 tests the company used to offer. What’s potentially a bigger deal is that the FDA says in its press release that it intends to grant an exemption to 23andMe that will make it far easier to get other such tests approved. Excluded from the exemption will be tests that actually diagnose disease, or have big, immediate consequences, like those for variants of the cancer gene BRCA that can lead women to have mastectomies or ovary removal in order to lower their risk of cancer. Other companies could be eligible for such exemptions in the future, too. The exact details of the proposed exemption will be published in the Federal Register, and will be open for comment for 30 days.
The question, from the beginning, has been whether knowing that one’s risk of a disease like Alzheimer’s or Parkinson’s is helpful or not. But Wojcicki says that patients want to know the answers. Work by Robert C. Green, a doctor and geneticist at Harvard’s Brigham and Women’s Hospital, has generally shown that patients aren’t harmed when they get scary genetic test results back, and don’t do anything rash. As part of its approval process for these new tests, 23andMe monitored used of its product by 25,000 people in the U.K., where the Parkinson’s and Alzheimer’s tests were available. The company says there were no incidents of self-harm or other serious behavior.
“The reason we have fought so hard and worked so hard for the direct-to-consumer label is as a mission for the company we really believe in the potential of the consumer,” says Wojcicki. “I really believe healthcare will start to change when the consumer has more responsibility over their own health and more power to actually make some of their own decisions.”
23andMe now has 2 million customers, Wojcicki says, compared to 800,000 in 2015. Selling its tests is not its only business. In fact, the data it is collecting may be far more valuable than the market for its kits. The company has its own internal drug discovery program, and is partnered with companies including Genentech. “It has long seemed to me that 23andMe’s business model is more about selling its data than selling its tests,” Greely says. “And I wonder if the customers really understand that.”
Wojcicki, unsurprisingly, has a different vision. The two million people signed up for 23andMe, she says, are engaged with their health, and represent a unique opportunity to figure out how people can keep themselves healthy. “What gets me up every day is the excitement of what’s our potential for research,” she says.