In a way, it was a triumphant return to prominence for 23andMe. In 2013, the FDA had ordered the company to stop presenting its product as a method for assessing disease risk. After that, 23andMe continued to sell a personal genome test, but without a health component.
In 2015, the agency approved the company’s test for a genetic variant linked to Blood syndrome, a rare autosomal disorder. But 23andMe was not cleared to give information related to Alzheimer’s disease or other conditions, as it did before the 2013 FDA ruling.
Until now. With last month’s ruling, the FDA allowed marketing of 23andMe Personal Genome Service Genetic Health Risk (GHR) tests for 10 diseases or conditions. As the agency’s news release noted, these represent the first direct-to-consumer (DTC) tests authorized by the FDA that provide information on an individual’s genetic predisposition to certain medical diseases or conditions.
The 23andMe GHR tests work by isolating DNA from a saliva sample, which is then tested for more than 500,000 genetic variants. The presence or absence of some of these variants is associated with an increased risk for developing any one of the following 10 diseases or conditions: Parkinson’s disease, late-onset Alzheimer’s disease; celiac disease, alpha-1 antitrypsin deficiency; early-onset primary dystonia; factor XI deficiency; Gaucher disease type 1; glucose-6-phosphate dehydrogenase deficiency; hereditary hemochromatosis; and hereditary thrombophilia.
Authorization of the 23andMe GHR tests was supported by data from peer-reviewed scientific literature that demonstrated a link between specific genetic variants and each of the 10.
The FDA was quick to add cautionary words for consumers who might misunderstand the results of such genetic testing, or the implications of the results for their health: “Consumers can now have direct access to certain genetic risk information,” said Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health. “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.”
The news release spells out that the GHR tests cannot determine a person’s overall risk of developing a disease or condition. It makes the point that in addition to genetic variants, environmental and lifestyle factors play a role in whether an individual will develop a disease or condition.
It is significant to note that the FDA reviewed data for the 23andMe GHR tests through the de novo premarket review pathway, a regulatory pathway for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device. In addition, the agency plans to exempt additional 23andMe GHR tests from its premarket review, and GHR tests from other makers may be exempt after submitting their first premarket notification. Such a proposed exemption would allow other, similar tests to enter the market quickly and in the least burdensome way, after a one-time FDA review. That means 23andMe may soon have plenty of competition.
The FDA excluded from its marketing authorization and any future exemption GHR tests that function as diagnostic tests—that is, tests that are often used as the basis for major treatment decisions.
Nevertheless, this is a big win for 23andMe and direct-to-consumer genetic testing. Whether it is a win or loss for the clinical lab industry remains to be seen. It could increase business, in the context of follow-up testing. Whether it is a win or loss for consumer health also remains to be seen; the American College of Medical Genetics and Genomics, among others, has expressed concerns that DTC genetic testing could lead to unnecessary follow-up. It seems to be an idea whose time has come. Time will tell if it is a good idea.
