FDA approves sale of genetic tests for risk of Alzheimer’s and other diseases

Consumers will soon be able to mail a saliva sample to genetic testing company and get back data on their risk for developing diseases such as Parkinson’s, late-onset Alzheimer’s, and celiac disease.

The Food and Drug Administration on Thursday granted approval to genetic testing company 23andMe to offer such direct-to-consumer tests for 10 conditions.

But Dr. Jeffrey Shuren, director of FDA’s Center for Devices and Radiological Health, urged customers not to take their test results as a sure sign that they will — or will not — develop a particular disease.

It’s “important that people understand that genetic risk is just one piece of the bigger puzzle,” Shuren said in a statement.

The FDA’s approval does not extend to diagnostic tests, such as genetic analysis that help determine a woman’s risk for breast cancer and that could lead to treatment decisions such as surgical removal of healthy breasts.

Still, the move was controversial because it will allow consumers to receive weighty information about their genetic risk for dreaded diseases without any counseling from a medical professional. The FDA cautioned that results should not be used to inform treatment decisions and noted that there is always a risk of false positives or false negatives.

The idea of telling consumers by mail that they have an elevated risk of Alzheimer’s — based on a genetic variant in a gene known as APOE — concerned some physicians and researchers. Rudolph Tanzi, a neurology professor at Harvard Medical School, said consumers will “for sure” need genetic counseling along with the test results.

The relationship between Alzheimer’s disease and the APOE variant “is complex and not fully understood,” said Dr. Mary Ganguli, a professor of geriatric psychiatry at the University of Pittsburgh.  For one thing, she said, the association is weaker in African-Americans than in whites. For another, the risk fades with age; if you make it beyond age 80 without developing Alzheimer’s, you’re no longer at elevated risk, even if you have the variant, she said.

“How is someone who orders the test at home and gets this result going to know all this?” Ganguli asked. “Do most of their doctors know?”

23andMe, like several other companies, has been providing customers with reports on their genetic ancestry and some general health information, like whether they’re lactose intolerant or prone to weight gain. The FDA’s move on Thursday greatly widens the market for the company.

Just as significant: The FDA indicated that it will ease the way for 23andMe to sell additional disease risk tests, without extensive regulatory review. Other companies that use a similar process for genetic analysis may also be able to expedite their path to market.

It’s a significant reversal of fortunes for the Bay Area startup: In 2013, the FDA banned the company from sharing data about disease risk with its customers. Regulators worried that consumers would misinterpret the results from the inexpensive at-home saliva test kit, and allowed 23andMe to only provide ancestry information.

After extensive talks with the FDA, 23andMe was allowed to start sharing some health information with its users in 2015 — offering users carrier screening, for instance, that indicated whether they could pass heritable diseases like cystic fibrosis and Tay-Sachs disease to their children.

The decision to allow 23andMe to disclose disease risk information to consumers has been nearly a year in the making: The company first submitted its request for approval in June 2016, according to Kathy Hibbs, 23andMe’s chief regulatory officer.

“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 cofounder, said in a statement. She also noted that it’s a “significant step forward” for her company.

The Personalized Medicine Coalition, which counts biotech and diagnostic companies and patient groups among its members, also welcomed the FDA’s move. The disease risk tests may “help inform patients’ behaviors and medical decisions,” said Edward Abrahams, the group’s president.

Ancestry tests cost $99 through 23andMe; the expanded analysis including disease and health risks costs $199. The company tests customers’ DNA for more than 500,000 genetic variants.

The company is planning on rolling out its first four disease reports later this month. Those will assess the risk of developing Parkinson’s, late-onset Alzheimer’s, the blood clot disorder hereditary thrombophilia, and Alpha-1 antitrypsin deficiency, which raises the risk of lung and liver disease.

The diseases were “chosen because those were some of the reports consumers most requested from 23andMe,” Hibbs said. Most existing customers will be able to request the reports for free, and will not have to submit another saliva sample. (The company’s earliest customers may have to send in more saliva, since the genetic analysis done several years ago wasn’t sophisticated enough to parse out disease risk, Hibbs said.)

Customers will receive educational information along with their disease risk analysis — including the cautionary note that having these genes raises the risk of developing the condition, but isn’t a sure sign the illness will develop in the future.

The FDA also approved the company’s tests for six other diseases, which will be launched later. Those are: celiac disease, which affects the ability to digest gluten; early-onset primary dystonia, a movement disorder that leads to involuntary muscle contractions; Factor XI deficiency, a blood clotting disorder; G6PD, a red blood cell condition; and hereditary hemochromatosis, an iron overload disorder.