[Updated 4/6/17, 7:42 pm. See below.] Consumers who aren’t squeamish about spitting into a tube and sending it to a lab can now have 23andMe test those samples to assess their risk of developing Parkinson’s, Alzheimer’s, and eight other disorders.
On Thursday, the FDA gave the Mountain View, CA-based genetic testing startup the green light to market these tests directly to consumers.
The FDA says its marketing authorization for 23andMe is the first covering any direct-to-consumer genetic tests. But in allowing these tests onto the market, the regulator also set boundaries for genetic testing. The FDA says these tests may only provide information about “genetic health risk”—how likely a person is to develop a certain disease or condition based on his or her genetic makeup. They’re not meant to be used by consumers to self-diagnose medical conditions and the FDA adds that it’s important for consumers to discuss the test results with medical professionals.
The FDA’s decision marks a turnaround for 23andMe, which four years ago was ordered by the regulator to stop offering its genetic tests. In a November 2013 warning letter sent to CEO Anne Wojcicki, the FDA said that the company was marketing its tests without first getting FDA approval for the tests as medical devices. The FDA added that consumers could use test results to self-manage treatments or even abandon treatment—a risky prospect in diseases such as cancer.
The 23andMe tests isolate DNA from a patient’s saliva sample. The company then tests the DNA for more than 500,000 genetic variants whose presence or absence is associated with particular diseases or medical conditions. Thursday’s FDA approval covers tests for 10 conditions: Parkinson’s disease; late-onset Alzheimer’s disease; celiac disease; alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease; early-onset primary dystonia, a movement disorder; factor XI deficiency, a blood clotting disorder; Gaucher disease type 1, an organ and tissue disorder; glucose-6-phosphate dehydrogenase deficiency, a red blood cell condition; hereditary hemochromatosis, an iron overload disorder; and hereditary thrombophilia, a blood clot disorder.
The 23andMe tests approved today aren’t the first from the company to win the regulatory nod. In 2015, the FDA authorized a 23andMe genetic test for Bloom Syndrome. That test enables consumers to determine whether they are genetic carriers of the disease, which leads to patients being short, sensitive to sunlight, susceptible to infection, and susceptible to many types of cancer. 23andMe notes that its Bloom genetic test informs consumers about inherited risk, to see whether they might pass the disease on to their children. That’s a different category than genetic health risk.
The FDA said Thursday that it decided to approve the 23andMe tests after studying peer-reviewed, scientific literature that demonstrated connections between specific genetic variants and each of the medical conditions that 23andMe tested for. The FDA said it also reviewed studies showing that the company’s tests correctly and consistently identified these genetic variants from saliva samples.
The FDA reviewed the 23andMe tests under “de novo premarket review,” a regulatory pathway for novel devices that carry low-to-moderate risks. This category covers products that can’t be compared to medical devices already on the market. Thursday’s decision also affects other companies planning to bring genetic testing products to market. The FDA said that the 23andMe tests would be exempt from premarket review, a more rigorous process that can require companies to evaluate their devices in a clinical trial. Other genetic health test companies might also be exempt from this requirement, after they first submit a “premarket notification” of the device to the regulator.
“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 FDA said in its announcement.
[Following two paragraphs added to include analyst comment.] In a research note, Leerink Partners analyst Puneet Souda wrote that the FDA’s 23andMe decision was positive for San Diego-based Illumina (NASDAQ: ILMN), with most of the market’s direct-to-consumer tests running on its equipment, and for the diagnostics sector overall because it establishes a clear regulatory pathway. Another beneficiary is Helix, a San Francisco company launched in 2015 backed by $100 million from Illumina and two venture capital firms. Helix planned to offer a genomic app store stocked with software that would give consumers insights into their genomes.
“As the FDA approval opens sequencing to more third-party providers, Helix can create a bigger marketplace and ecosystem tailored to individuals’ genetic dispositions,” Souda wrote.
The FDA cautioned that its decision does not include genetic tests used for diagnosing disease and making treatment decisions, such as the tests for mutations on the BRCA genes, which are associated with a higher risk of developing breast cancer. The regulator also cautioned that risks associated with the 23andMe tests include the possibility of false positive or false negative findings. Because of those risks, the FDA cautioned consumers against using genetic test results to diagnose disease or make treatment decisions.
DNA image by Depositphotos.