- Consumers will now be able to purchase an over-the-counter test to screen for genetic variants that may influence medication metabolism, the FDA has announced.
The direct-to-consumer test from 23andMe is a first for the American market, which is showing an increasing interest in personalized medicine and precision health.
While the test is subject to special marketing controls due to the nature of the information it may supply, the FDA has expressed enthusiasm about the potential to give consumers more actionable information about their personal genetic responses to treatments and potential susceptibility to inherited conditions.
“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. We know that consumers are increasingly interested in genetic information to help make decisions about their health care,” said Tim Stenzel, director of the Office of In Vitro Diagnostics and Radiological Health in the FDA’s Center for Devices and Radiological Health.
The test uses a saliva sample to detect 33 variants for genes that may influence how an individual responds to certain medications. Varying metabolism rates – or the inability to metabolize a substance at all – can produce significant differences in outcomes for individuals.
With information on how individuals are likely to respond to specific therapies, providers may be able to make more accurate recommendations for alternatives that may be more effective.
The test was cleared for marketing through the FDA’s “de novo premarket review pathway,” which is intended to speed the oversight process for “novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device,” the agency said.
However, the FDA combined its approval with several strong warnings against using the test results in lieu of professional clinical advice.
“This test should be used appropriately because it does not determine whether a medication is appropriate for a patient, does not provide medical advice and does not diagnose any health conditions. Consumers should not use this test to make treatment decisions on their own,” said Stenzel.
“Any medical decisions should be made only after discussing the results with a licensed health care provider and results have been confirmed using clinical pharmacogenetic testing.”
Immediately after the approval announcement, the FDA doubled down on its warnings for consumers by issuing a second press release urging individuals not to rely on direct-to-consumer genetic tests that have not been cleared by the agency.
“Today, we are warning the public about the FDA’s concerns with pharmacogenetic tests whose claims have not been reviewed by the FDA,” wrote Jeffrey Shuren, MD, JD, director of the FDA’s Center for Devices and Radiological Health and Janet Woodcock, MD, director of the FDA’s Center for Drug Evaluation and Research.
“Specifically, we are warning consumers about many such genetic tests being marketed directly to consumers or offered through health care providers that claim to predict how a patient will respond to specific medications. Tests that make such claims that have not been evaluated by the FDA and are not supported by prescribing recommendations in the FDA-approved drug label, may not be supported by scientific and clinical evidence, and may not be accurate.”
While the FDA is a proponent of the science of pharmacogenetics, and believes that studying individual responses to therapies can offer meaningful insights into targeted care, Shuren and Woodcock stressed that the science is still in its infancy.
Relying too heavily on genetic test results, especially those whose claims have not been substantiated by rigorous review, could result in patient harm.
For example, claims about genetic variations in response to certain antidepressants have not been validated, the officials said, and tests that purport to give consumers answers about which drugs may be less effective based on genetic factors have not been approved by the FDA.
Providers should not be making treatment decisions based primarily on these unapproved tests, said Woodcock and Shuren.
Not even the FDA-cleared 23andMe test is robust enough to provide the basis for decision-making, added Stenzel.
“The 23andMe Personal Genome Service Pharmacogenetic Reports test is not intended to provide information on a patient’s ability to respond to any specific medication,” he wrote. “The test does not describe an association between the detected variants and any specific drug nor whether a person will or will not respond to a particular drug.”
“Furthermore, health care providers should not use the test to make any treatment decisions. Results from this test should be confirmed with independent pharmacogenetic testing before making any medical decisions.”
The 23andMe test may come with numerous caveats and warnings, but the approval indicates that the FDA is optimistic that putting such information into the hands of consumers will be able to inform decision-making in a positive way.
“We believe, with more scientific study, there is great potential for pharmacogenetics. We have so much more to learn about the use of these tests for specific medications, what the results mean, and how we can apply the information to improve a patient’s health,” said Shuren and Woodcock.
“While we are committed to supporting innovation in this area, we will also be vigilant in protecting against the potential risks. We will continue to closely monitor this area and take appropriate enforcement action as necessary.”