Statement from FDA Commissioner Scott Gottlieb, M.D., on implementation of agency’s streamlined development and review pathway for consumer tests that evaluate genetic health risks

At a time when people are more aware of and engaged in their health care than ever before, genetic risk testing can provide helpful information about an individual’s predisposition for certain diseases and conditions. These tests can prompt consumers to be more engaged in pursuing the benefits of healthy lifestyle choices and more aware of their health risks. Consumers are increasingly embracing genetic health risk (GHR) testing to better understand their individual risk for developing diseases. This engagement prompts some people to make more informed lifestyle choices.

Direct-to-consumer (DTC) access to GHR tests is made possible by advances in technology. With a small saliva sample, consumers can retrieve their genetic risk result directly from the test provider’s website. As consumer interest in genetic risk information grows, opportunities are also expanding for the detection of additional genetic conditions and diseases that can help inform people of their medical risks.

While these tests can offer significant amounts of personal risk information, they’re not without their own risks – especially if they provide consumers with incorrect or misleading information that may be used to make health choices without considering the advice of a medical professional. Consider the consequences of a person who is told they’re not at risk for coronary heart disease and incorrectly opts to forgo dietary changes or drugs that reduce their risk of heart attack and death.

The accelerated development of these innovative DTC genetic risk tests paired with the known safety considerations presents unique challenges to FDA regulation, as these technologies don’t fit squarely into our traditional risk-based approach to device regulation. The agency has been increasingly nimble and creative in adapting its regulatory framework to fit the challenges of new technology platforms. In its consideration of GHR tests, the FDA seeks to strike a balance that provides for an efficient pathway to bring these tests to consumers, without sacrificing the assurances offered by FDA oversight.

We’ve committed on several fronts to take a fresh look at how we regulate truly novel medical advances to ensure that the FDA is encouraging their development and creating pathways that are risk-based, efficient, achieve the assurance of safety and efficacy, and in the case of tests, analytical and clinical validity, through a framework that is least burdensome. In the past six months, the FDA has announced that we’re exploring several such approaches.

One example is the FDA’s precertification pilot program (FDA Pre-Cert), which seeks to apply a tailored approach toward digital health technology by looking at the software developer or digital health technology developer, rather than primarily at the product. Another example is the FDA’s forthcoming, comprehensive policy framework that will more clearly describe some novel frameworks for how the agency intends to regulate the safety and effectiveness of cell-based regenerative medicine.

Today, the FDA is taking steps to implement a novel regulatory approach for the regulation of GHR tests that applies proper oversight in a flexible, new way. It builds on the important lessons we learned from the FDA’s authorization of the first GHR and carrier screening tests sold directly to consumers. Specifically, today the agency issued a notice of its intent to allow GHR tests to be exempted from premarket review under certain conditions. If and when finalized, manufacturers of these types of tests would have to come to FDA for a one-time review to ensure that they meet the FDA’s requirements, after which they may enter the market with new GHR tests without further review. The agency also established special controls for these tests in a separate de novo classification order, which outline requirements for assuring the tests’ accuracy, reliability and clinical relevance and describe the type of studies and data required to demonstrate performance of certain types of genetic tests. This approach is similar to the proposed firm-based, pre-certification model that we developed for digital health technologies.

Today, the agency also classified certain tests to evaluate vitamin D levels in class II, subject to special controls, and announced its intent to exempt these tests from premarket review. Finally, the FDA issued a final order exempting genetic carrier screening tests from premarket review.

We’ll continue to look for opportunities to use this type of firm-based regulatory approach, both for new tests and other novel medical products. Our goal is to streamline the regulatory pathway to get innovative medical products to people more efficiently, while providing the FDA assurances that consumers seek. The FDA, an agency within the U.S. Department of Health and Human Services, protects the public and promotes health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public and promotes health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.