You can now take a genetic test at home to find out if you’re predisposed to a number of hereditary conditions, including Alzheimer’s and celiac disease, after recent Food and Drug Administration (FDA) approval.
Last week, the FDA granted 23andMe, a personal genetics company based in Mountain View, Calif., the right to market its Personal Genome Service Genetic Health Risk directly to consumers.
The test, which analyzes a consumer’s saliva swab for more than 500,000 genetic variants, can report a person’s risk of acquiring Parkinson’s disease, late-onset Alzheimer’s disease, celiac disease, alpha-1 antitrypsin deficiency (a disorder that raises the risk of lung and liver disease), early-onset primary dystonia and other conditions.
“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.”
Many factors contribute to a person’s risk for developing a disease, including lifestyle factors, such as diet and exercise, and environmental factors. The FDA cautions that “the tests cannot determine a person’s overall risk of developing a disease or condition.”
However, they can provide an incisive look into the inner workings of a person’s body and may reveal hidden health risks that someone otherwise wouldn’t have access to.
“This is an important moment for people who want to know their genetic health risks and be more proactive about their health,” said Anne Wojcicki, 23andMe CEO and co-founder, in a company statement. “The FDA has embraced innovation and has empowered individuals by authorizing direct access to this information. It is a significant step forward for 23andMe and for the adoption of personal genetics.”
The other conditions the 23andMe genetics test can assess include the blood-clotting disorder factor XI deficiency, Gaucher disease type 1, the red blood cell condition Glucose-6-Phosphate Dehydrogenase deficiency, hereditary hemochromatosis (an iron overload disorder), and hereditary thrombophilia, a blood clot disorder.
For the new tests to hit the market, the FDA had to establish “special controls” that sought to moderate the tests’ “accuracy, reliability and clinical relevance,” the agency reported.
“The special controls describe the testing that 23andMe conducted to demonstrate the performance of these tests and clarify agency expectations for developers of other [genetic health risk tests],” said Shuren.
“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,” added Shuren.
The FDA also makes it clear that the new genetic test and others like it that may come to market are not diagnostic tests — that is, they aren’t intended to act as “the sole basis for major treatment decisions.” For example, a genetic test for a breast cancer gene can’t be used as a reason for breast-removal surgery.
“Results obtained from the tests should not be used for diagnosis or to inform treatment decisions,” advises the FDA. “Users should consult a health care professional with questions or concerns about results.”