FDA News

FDA authorizes marketing of personal genetic risk tests

The FDA authorized marketing of 23andMe Personal Genome Service Genetic Health Risk tests for 10 diseases and conditions, including Alzheimer’s disease, Parkinson’s disease and celiac disease.

This marks the first FDA authorization of direct-to-consumer tests that provide information on individuals’ genetic risk for certain diseases or conditions.

“Consumers can now have direct access to certain genetic risk information,” Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health, said in a press release. “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.”

The tests are intended to provide genetic risk information to consumers but cannot determine an individual’s overall risk, according to the FDA.

To assess risk, DNA from a saliva sample is tested for 500,000 genetic variants whose absence or presence is associated with an increased risk for 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, and hereditary thrombophilia.

Authorization of 23andMe Personal Genome Service Genetic Health Risk tests was supported by the FDA’s review of peer-reviewed, scientific literature through the de novo premarket review pathway. Data indicated a link between specific genetic variants and each of the conditions.

The FDA also reviewed studies that showed the tests consistently identified variants correctly from a saliva sample.

In addition to the authorization, the FDA established criteria called “special controls” that communicate the agency’s expectations for test accuracy, reliability and clinical significance.

The agency plans to exempt additional 23andMe genetic health risk tests from premarket review and genetic health risk tests from other makers may also be exempt after their first premarket notification.

“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 risks],” Shuren said in the 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.”

The FDA noted risks associated with the use of genetic health risk tests, including false-positive findings and false-negative findings. Thus, results from genetic health risk tests should not be used for diagnosis or to inform treatment decisions.

Health care professionals should be consulted with consumer questions or concerns.

The FDA authorized marketing of 23andMe Personal Genome Service Genetic Health Risk tests for 10 diseases and conditions, including Alzheimer’s disease, Parkinson’s disease and celiac disease.

This marks the first FDA authorization of direct-to-consumer tests that provide information on individuals’ genetic risk for certain diseases or conditions.

“Consumers can now have direct access to certain genetic risk information,” Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health, said in a press release. “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.”

The tests are intended to provide genetic risk information to consumers but cannot determine an individual’s overall risk, according to the FDA.

To assess risk, DNA from a saliva sample is tested for 500,000 genetic variants whose absence or presence is associated with an increased risk for 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, and hereditary thrombophilia.

Authorization of 23andMe Personal Genome Service Genetic Health Risk tests was supported by the FDA’s review of peer-reviewed, scientific literature through the de novo premarket review pathway. Data indicated a link between specific genetic variants and each of the conditions.

The FDA also reviewed studies that showed the tests consistently identified variants correctly from a saliva sample.

In addition to the authorization, the FDA established criteria called “special controls” that communicate the agency’s expectations for test accuracy, reliability and clinical significance.

The agency plans to exempt additional 23andMe genetic health risk tests from premarket review and genetic health risk tests from other makers may also be exempt after their first premarket notification.

“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 risks],” Shuren said in the 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.”

The FDA noted risks associated with the use of genetic health risk tests, including false-positive findings and false-negative findings. Thus, results from genetic health risk tests should not be used for diagnosis or to inform treatment decisions.

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Health care professionals should be consulted with consumer questions or concerns.