FDA Authorizes First Direct-To-Consumer Test for Genetic Variants

The U.S. Food and Drugs Administration approved the first direct-to-consumer genetic health risk test.

It's called the 23andMe Personal Genome Service Genetic Health Risk test and it will assess a person's inherited risk for 10 diseases and conditions.

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"Consumers can now have direct access to certain genetic risk information," said Dr. Jeffrey Shuren, 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."

What Does That Mean for Us?

This means these tests can be used to make better lifestyle choices or to inform you of some discussions you should have with your healthcare professional.

The test is derived from a saliva sample and is screened for more than 500,000 genetic variants that are generally associated with an increased risk disease or a condition.

These include:

• Thrombophilia — a blood clot disorder
• Hemochromatosis — an iron overload disorder
• Glucose-6-Phosphate Dehydrogenase deficiency — a red blood cell condition
• Gaucher disease — and organ and tissue disorder
• Factor XI deficiency — a blood clotting disorder
• Primary dystonia — disorder involving involuntary muscle contractions and other uncontrolled movements
• Antitrypsin deficiency — a disorder that raises your risk for lung and liver disease
• Celiac disease
• Alzheimer's disease
• Parkinson's disease

So the FDA set some established "special controls" that clarified its expectations on how well the tests should perform. They also crafted a streamlined procedure to make it easy for other makers to develop and submit similar tests for approval.

Not only is this going to encourage fair competition, but it will eventually make direct-to-consumer tests that are affordable and accurate. 23andMe Inc is based out of Mountain View, California and once the FDA approved the tests, it analyzed peer-reviewed studies that demonstrated a link between specific genetic variants and each of the 10 health 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. “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.”

What is Pharmacogenetics?

Aside from being difficult to type, it is the process of understanding what, if any, role that genetics play in a patient's reaction to drugs. This new test will analyze your DNA and the report will describe if you have a variant in certain genes that could be associated with your ability to metabolize some medicines.

The test wasn't designed to provide any information on your ability to respond to a specific medication and it doesn't describe an association between the detected variants and any specific drug, either. Health care providers are encouraged to not use the test to make any treatment decisions. The results from the test should be confirmed with independent pharmacogenetic testing before any medical decisions can be made.

Wrapping It Up

The FDA's review of the test determined that the company provided data to show that the test is accurate. That means it can correctly identify the genetic variants in saliva samples — providing reproducible results. 23andMe submitted data on user comprehension studies that demonstrated the test instructions and reports were understood by consumers.

The test results will tell you what the results could mean, but it does not show you how to interpret results or what to do about the results.

The de novo premarket review pathway is a regulatory pathway for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device.

Once authorized, the FDA established the criteria, also known as special controls, which sets the agency's expectations in assuring the test's accuracy, clinical performance, and labeling.

For this specific category of device, there are six special controls, which include a labeling requirement with a warning statement noting the consumer should not use the test results to stop or change any medication.

These special controls provide a reasonable assurance of safety and effectiveness for the test.

With new and improving technology, it's going to be great to see what comes of the future.