The US Food and Drug Administration (FDA) on Thursday authorized the first direct-to-consumer (DTC) genetic health risk tests for 10 diseases and conditions.

The authorization for the genetic testing company 23andMe means individuals for the first time will be able to use these tests to understand their genetic predispositions for certain diseases and conditions without first seeing a doctor.

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

According to FDA, 23andMe Personal Genome Service Genetic Health Risk (GHR) tests “work by isolating DNA from a saliva sample, which is then tested for more than 500,000 genetic variants.”

23andMe said Thursday it will release "the first set of new genetic health risk reports" later this month, with additional reports to follow. Consumers purchasing the companies Health + Ancestry Service will receive the reports for free when they are ready.

10 Tests

According to FDA, the presence or absence of some of these genetic variants identified by the DTC tests is associated with an increased risk for developing any one of the following:

• Parkinson’s disease, a nervous system disorder impacting movement;
• Late-onset Alzheimer’s disease, a progressive brain disorder that destroys memory and thinking skills;
• Celiac disease, a disorder resulting in the inability to digest gluten;
• Alpha-1 antitrypsin deficiency, a disorder that raises the risk of lung and liver disease;
• Early-onset primary dystonia, a movement disorder involving involuntary muscle contractions and other uncontrolled movements;
• Factor XI deficiency, a blood clotting disorder;
• Gaucher disease type 1, an organ and tissue disorder;
• Glucose-6-Phosphate Dehydrogenase deficiency, also known as G6PD, a red blood cell condition;
• Hereditary hemochromatosis, an iron overload disorder; and
• Hereditary thrombophilia, a blood clot disorder.

De Novo Pathway

FDA reviewed data for the tests through the de novo premarket review pathway, a regulatory pathway for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device.

In addition to the approvals, FDA is establishing criteria, called special controls, which clarify the agency’s expectations in assuring the tests’ accuracy, reliability and clinical relevance.
 
FDA also said on Thursday that it “intends to exempt additional 23andMe GHR tests from the FDA’s premarket review, and GHR tests from other makers may be exempt after submitting their first premarket notification. A proposed exemption of this kind would allow other, similar tests to enter the market as quickly as possible and in the least burdensome way, after a one-time FDA review.”

“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,” Shuren said. “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, FDA also noted that GHR tests that function as diagnostic tests are excluded from any future, related exemption.

Authorization Decision

FDA says its authorization of the 23andMe GHR tests was supported by data from peer-reviewed, scientific literature that demonstrated a link between specific genetic variants and each of the 10 health conditions.

“The published data originated from studies that compared genetic variants present in people with a specific condition to those without that condition. The FDA also reviewed studies, which demonstrated that 23andMe GHR tests correctly and consistently identified variants associated with the 10 indicated conditions or diseases from a saliva sample,” FDA said.

A user study also showed that the 23andMe GHR tests’ instructions and reports were easy to follow and understand, and that people using the tests understood more than 90% of the information presented in the reports.

“Risks associated with use of the 23andMe GHR tests include false positive findings, which can occur when a person receives a result indicating incorrectly that he or she has a certain genetic variant, and false negative findings that can occur when a user receives a result indicating incorrectly that he or she does not have a certain genetic variant. Results obtained from the tests should not be used for diagnosis or to inform treatment decisions. Users should consult a health care professional with questions or concerns about results,” FDA added.