The US Food and Drug Administration (FDA) has authorized the first direct-to-consumer genetic health risk test to provide information on an individual’s genetic predisposition to 10 diseases or conditions.
The 23andMe Personal Genome Service Genetic Health Risk (GHR) test isolates DNA from a saliva sample, which is tested for more than 500,000 genetic variants, to provide information regarding an individual’s predisposition to the following diseases and conditions:
- 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 (G6PD)
- Hereditary hemochromatosis
- Hereditary thrombophilia
“Consumers can now have direct access to certain genetic risk information,” stated Jeffrey Shuren, MD, 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.”
Data from peer-reviewed, scientific literature supported the authorization of the 23andMe test and demonstrated a link between scientific genetic variants and each of the 10 health conditions. The studies compared genetic variants present in people with a specific condition to those without the condition. Additional studies also demonstrated that the 23andMe test correctly and consistently identified variants associated with the 10 diseases or conditions from a saliva sample.
The FDA will also establish special controls that will clarify the agency’s expectations to assure the tests’ accuracy, reliability, and clinical relevance. They will also provide reasonable assurance of safety and effectiveness for the 23andMe test and similar GHR tests.
The agency also notes that there is a risk of false positive or false negative findings associated with the use of the 23andMe test. The results from the GHR test should not be used for diagnosis or to inform treatment decisions, and users should consult a healthcare provider with questions or concerns about the results.
“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,” Dr Shuren stated in the FDA’s press release.
“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.”
- FDA allows marketing of first direct-to-consumer tests that provide genetic risk information for certain conditions. US Food and Drug Administration. Published April 6, 2017. Accessed April 10, 2017.