The genertic test is the first piece in the bigger puzzle of determining disease risk.

Offering a clear signal that it supports personal medicine initiatives and innovation, the FDA authorized the marketing of the first direct-to-consumer (DTC) Genetic Health Risk (GHR) tests for 10 diseases. The agency said the tests provide information on an individual’s genetic predisposition to a given disease and that equipped with the results, patients have a another tool to make better lifestyle choices or support a more informed dialogue with healthcare professionals regarding potential future health issues.

Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health explained “Consumers can now have direct access to certain genetic risk information,” but he cautioned that it is important for people to understand that determining genetic risk is “just one piece of the bigger puzzle,” and that regardless of test results, it doesn’t necessarily mean a person won’t ultimately develop a disease. In addition to the presence of certain genetic variants, the FDA said there are many factors that contribute to the development of a health condition, including environmental and lifestyle factors.

The 23andMe GHR test isolate DNA from a saliva sample, and analyzes it for more than 500,000 genetic variants. The presence or absence of some of these variants is associated with an increased risk for developing any one of the following diseases or conditions:

• 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.

According to the FDA, it reviewed data for the 23andMe GHR tests through its de novo premarket review regulatory pathway for novel, low-to-moderate-risk devices that are not substantially equivalent to an already legally marketed device. Along with this authorization, the FDA is establishing criteria, called special controls, which clarify the agency’s expectations in assuring the tests’ accuracy, reliability and clinical relevance. These special controls, when met along with general controls, provide reasonable assurance of safety and effectiveness for these and similar GHR tests.

“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,” Dr. Shuren confirmed.