First Direct-To-Consumer Genetic Test for Medication Metabolism

On October 31, 2018, the FDA authorized 23andMe to market the 23andMe Personal Genome Service Pharmacogenetic Reports, a direct-to-consumer test for providing information about genetic variants that may be associated with a patient’s ability to metabolize some medications to help inform discussions with a health care provider. The FDA authorized the test to detect 33 variants for multiple genes.


“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. “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. 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.”


Pharmacogenetics is the process of understanding what, if any, role genetics plays in a patient’s reaction to drugs. The Personal Genome Service test analyzes DNA from a self-collected saliva sample and the report describes if a person has variants in certain genes that may be associated with a patient’s ability to metabolize some medicines.


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. The test does not describe an association between the detected variants and any specific drug or 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 FDA’s review of the test determined, among other things, that the company provided data to show that the test is accurate (i.e., can correctly identify the genetic variants in saliva samples) and that it can provide reproducible results. The company submitted data on user comprehension studies that demonstrated that the test instructions and reports were understood by consumers. The test report provides information describing what the results might mean, what the test does not do, and how to interpret results.


Along with this authorization, the FDA established criteria, called special controls, which set forth the FDA’s expectations in assuring the test’s accuracy, clinical performance, and labeling. For this category of device, the FDA established six special controls, including a labeling requirement that a warning statement must be included noting that the consumer should not use the test results to stop or change any medication. These special controls, when met along with general controls, provide reasonable assurance of safety and effectiveness for this test.


“The use of some drugs can be aided by pharmacogenetic testing; there is sufficient scientific evidence demonstrating a relationship between certain drugs and genetic variants. For example, the blood thinner clopidogrel (Plavix) has a boxed warning that indicates health care providers should consider an alternative therapy for patients with specific genetic variants,” said Jeffrey Shuren, M.D., J.D., director of the FDA’s Center for Devices and Radiological Health and Janet Woodcock, M.D., director of the FDA’s Center for Drug Evaluation and Research in a joint statement. “Today, we are warning the public about the FDA’s concerns with pharmacogenetic tests whose claims have not been reviewed by the FDA. 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. . . . [I]nappropriately selecting or changing drug treatment based on the results from insufficiently substantiated genetic tests . . . could lead to potentially serious health consequences for patients. For example, a patient may change the dose of their medication for a particular condition or disease based on the results of an unproven genetic test, which may result in inadequate care or worsening illness.”


“We are aware that these types of genetic tests are promoted to predict how a person will respond to specific medications used to treat conditions such as depression, heart conditions, acid reflux and others. They may claim that a specific medication may be less effective or have an increased chance of side effects due to a patient’s genetic variations or indicate that the health care provider can or should change a patient’s medication based on results from these tests.”


“For example, the FDA is aware of genetic tests that claim results can be used by physicians to identify which antidepressant medication would have increased effectiveness or side effects compared to other antidepressant medications. However, the relationship between DNA variations and the effectiveness of antidepressant medications has never been established. Moreover, the FDA is aware that health care providers have made changes to patients’ medication based on genetic test results that claim to provide information on the personalized dosage or treatment regimens for some antidepressant medications, which could potentially lead to patient harm.”


“It is important to note that there are some drugs whose use can be aided by the results of pharmacogenetic information. In those cases, there is scientific evidence to support relationships between the genetic variant and how a patient responds to a drug, which has been reviewed by the FDA. The FDA-approved labeling for such a drug and genetic test provide health care providers with adequate information on how to use genetic information reported by the genetic test to manage medication treatment using the drug.”


“For example, the FDA has evaluated and authorized for marketing, tests that alert patients to drug metabolizing enzymes, such as for warfarin sensitivity. Another example is the direct-to-consumer genetic variant test authorized for marketing yesterday, which is intended to provide information regarding genetic variants that may play a role in the metabolism of some medicines. However, we have required that the test label make clear that it is not intended to provide information on a patient’s ability to respond to any specific medication. Furthermore, health care providers should not use the test to make any treatment decisions, without additional testing. This application was granted with limited indications and is subject to special controls.”


See the FDA Announcement


See the joint statement on the FDA’s warning to consumers about genetic tests that claim to predict patients’ responses to specific medications


See also Medical Risk Law Report: Unlocking Genetic Secrets: Liability Risks for Genetic Testing and Information Providers


See also Medical Risk Law Report: Drugs, Dosage, and Damage: Physician Liability for Prescribing or Administering Medication