On April 12, 2018, FDA issued final guidance on Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS) – Based In Vitro Diagnostics (IVDs) Intended to Aid in the Diagnosis of Suspected Germline Diseases.

The guidance provides recommendations for designing, developing, and validating NGS-based tests used to diagnose individuals with suspected genetic diseases. The recommendations are intended to promote a flexible approach to oversight that is adapted to the novel and evolving nature of NGS technologies, which are capable of examining millions of DNA variants at a time. The Agency’s intent is to optimize its approach to regulatory oversight for NGS IVD tests while at the same time ensuring the devices have a reasonable assurance of safety and effectiveness.

In addition, the guidance clarifies how the FDA evaluates premarket submissions to determine a test’s analytical validity. In particular, FDA intends for the recommendations to assist and inform the development of consensus standards by experts in the community. FDA believes standards that address the guidance recommendations may potentially form the basis of special controls that could reasonably assure the safety and effectiveness of these tests, allowing NGS-based tests to be candidates for classification as Class II devices via the De Novo process. If classified in class II, subsequent NGS-based tests would be reviewed through the 510(k) program, significantly streamlining the review process.

Readers are encouraged to read the final guidance, also available on FDA’s website. In addition on May 24, 2018, FDA will host a webinar for product developers, database administrators, and others interested in learning more about the final guidances on NGS-based tests.