FDA Approves First Direct-to-Consumer Genetic Tests

Yesterday, the FDA approved the marketing of 23andME Personal Genome Service Genetic Health Risk (GHR), which tests for 10 different diseases.

These are the first direct-to-consumer (DTC) tests approved by the FDA to provide information regarding genetic risks associated with certain diseases, according to a press release.

Increased understanding about genetic risks may cause patients to alter lifestyle choices and discuss options with their healthcare provider.

While the GHR tests can provide genetic risks, the tests are unable to determine the overall risk of developing a certain disease, as other factors can be involved, such as overall health, environment, and lifestyle.

The newly-approved tests isolate DNA from a saliva sample that is tested for more than 500,000 genetic variants, according to the release.

The presence or absence of genetic variants can indicate that patients may have an increased risk of developing 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, or hereditary thrombophilia.

The FDA analyzed data for the tests through the de novo premarket review pathway, which is a regulatory pathway for low-to-moderate-risk devices that are not similar to another marketed device, according to the release.

The FDA is creating special controls that outline their expectations that ensure the accuracy, reliability, and clinical relevance of the 23andMe GHR tests. These controls provide the assurance of safety and efficacy for the tests.

Additionally, the FDA plans to exempt additional 23andME tests from premarket review. This would allow similar tests to enter the market quickly, according to the FDA.

“The special controls describe the testing that 23andMe conducted to demonstrate the performance of these tests and clarify agency expectations for developers of other GHRs,” said Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health. “By establishing special controls and eventually, a premarket review exemption, the FDA can provide a streamlined, flexible approach for tests using similar technologies to enter the market while the agency continues to help ensure that they provide accurate and reproducible results.”

However, the FDA warns that GHR tests are not diagnostic tests, and should not be treated as such. Diagnostic tests, such as those that test for BRCA, are the basis for treatment decisions, while the 23andME GHR tests can identify risks.

The marketing approval was supported by data from studies that showed links between genetic variants and each of the health conditions. The FDA also reviewed studies that demonstrated the new GHR tests correctly identified the variants from saliva.

The FDA advises that patients can experience a false-positive or negative finding from the 23andMe GHR test, and they should consult a healthcare professional regarding the results, according to the release.

“Consumers can now have direct access to certain genetic risk information,” Dr Shuren, MD, said. “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.”