The FDA on Wednesday approved 23andMe's Personal Genome Service Pharmacogenetic Reports, marking the first direct-to-consumer genetic test cleared to provide information about how patients' genetic variants might affect their response to certain medications. The approval represents a significant milestone in making pharmacogenetic information directly accessible to consumers, though it comes with important limitations and safety controls.
Test Capabilities and Scope
The new genetic test functions similarly to other direct-to-consumer genetic tests, allowing consumers to submit a saliva sample to gain insights into their genetics. However, unlike other available tests, 23andMe's pharmacogenetic report specifically analyzes 33 genetic variants associated with patient responses to more than 50 commonly prescribed prescription and over-the-counter drugs.
The test covers medications across various therapeutic areas, including the blood thinner clopidogrel, which prevents heart attacks and strokes. Several of the genetic variants assessed are associated with responses to mental health treatments, expanding the test's potential clinical relevance across multiple medical specialties.
FDA Approval with Strict Limitations
The FDA cleared the genetic test for consumers to gain information about genetic variants that might be associated with their ability to metabolize certain treatments and to inform conversations with healthcare providers. However, the agency emphasized significant restrictions on the test's use.
The FDA specifically stated that the test is not cleared to assess whether a treatment is appropriate, determine how a patient will respond to a specific treatment, or provide medical advice. Tim Stenzel, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health, said, "This test is a step forward in making information about genetic variants available directly to consumers and better inform their discussions with their health care providers."
23andMe demonstrated that 97% of users understood they should not use the report to make treatment changes without consulting their doctor, which contributed to the FDA's approval decision.
Industry Perspective and Clinical Utility Concerns
Kathy Hibbs, chief legal and regulatory officer at 23andMe, explained the company's rationale: "We want to make this proactively available to individuals so it will ultimately become convenient when, and if, they ever do need any of these medications." She noted that physicians would likely play a crucial role in determining how patients use this genetic information, particularly since the variants primarily inform responses to prescription medications.
However, medical experts have expressed reservations about the widespread clinical utility of pharmacogenetic testing. Dr. Rebecca Sutphen, co-founder and chief medical officer of InformedDNA, which focuses on appropriate genetic test use, cautioned that pharmacogenetic tests might not be ready for widespread consumer application.
"At this moment in time, there's not an indication for most people to get genetic testing other than curiosity," Sutphen said. "Where there are indications for people to get genetic testing, there are clear guidelines and targeted tests and genetic counseling to help interpret that information in the context of your personal needs and family history."
Clinical Implementation Challenges
While research has demonstrated links between certain genetic variants and drug metabolism, experts note uncertainty about how these associations should influence prescribing decisions. Kim Schahl, a certified genetic counselor and director of genomics research and development at InformedDNA, pointed out that the "overwhelming majority" of people have some variant that would be flagged by pharmacogenetic testing.
"Whether or not they'll ever need that drug in their lifetime remains to be seen," Schahl said. "And whether or not that variant actually would change how that drug was prescribed to them remains to be seen."
Sutphen emphasized that clinical validation would be necessary for any practical application: "To even consider using any of the information in the test, you would need a clinical test to be done."
Market Availability and Regulatory Context
The test will be offered as part of 23andMe's existing $199 Health and Ancestry service, though the company has not announced a specific launch date. This approval represents a significant expansion of 23andMe's FDA-cleared capabilities, following previous approvals for genetic variants associated with breast cancer, late-onset Alzheimer's disease, and Parkinson's disease.
The approval comes after 23andMe's regulatory challenges in 2013, when the FDA issued a warning letter that temporarily halted the health and diagnostic aspects of the company's business. The morning after approving 23andMe's test, the FDA issued a warning to consumers about similar tests on the market that lack FDA approval, underscoring the importance of regulatory oversight in this emerging field.
