FDA Issues New Guidance on IVDs Using Next Generation Sequencing

The FDA issued two new guidances on development of in vitro diagnostics that use next generation sequencing (NGS) technology to create individualized, genetic-based medical plans tailored to specific patients.

The first guidance, Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics, encourages developers to use clinical evidence found in FDA-recognized public databases to support clinical claims for their tests. The agency said this will ensure accurate clinical evaluation while providing developers with an efficient means of gaining marketing clearance or approval for new tests.

The guidance describes the FDA’s considerations for recognizing publicly accessible genetic variant databases as sources of valid scientific evidence during premarket review.

FDA Commissioner Scott Gottlieb said the agency “recognizes the tremendous potential of NGS technology to guide and improve patient outcomes:” and said the agency is “developing a policy approach to keep pace with fast-moving NGS technologies that give patients and clinicians confidence in these panels’ analytical and clinical validity, while still allowing these sequencing systems to be efficiently updated as new genes, or gene variants, or improved algorithms come online.”

The second guidance, “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,” provides recommendations for designing, developing and validating NGS-based tests used to diagnose individuals with suspected genetic diseases. The guidance describes how the FDA evaluates premarket submissions to determine how accurate a test is at detecting a particular genomic change.

The FDA developed the guidelines because current regulatory approaches are “appropriate for conventional diagnostics” that measure a limited number of chemical substances, while new sequencing technologies can examine millions of DNA variants at a time, and require a more “flexible approach to oversight that is adapted to the novel and evolving nature of these tests.”

Read the draft guidance on databases here: www.fdanews.com/04-13-18-Databases.pdf.

Read the draft guidance on design considerations here: www.fdanews.com/04-13-18-Guidance.pdf. — Donna Scaramastra Gorman