Use of Public Human Genetic Variant Databases To Support Clinical Validity for Next Generation Sequencing-Based In Vitro Diagnostics; Draft Guidance for Stakeholders and Food and Drug Administration Staff; Availability

The Food and Drug Administration (FDA or Agency) is announcing the availability of the draft guidance entitled ``Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics.'' This draft guidance document describes how publicly accessible databases of human genetic variants can serve as sources of valid scientific evidence to support the clinical validity of genotype-phenotype relationships in FDA's regulatory review of next generation sequencing (NGS)-based tests. This draft guidance further outlines the process by which administrators of genetic variant databases could voluntarily apply to FDA for recognition, and how FDA would review such applications and periodically reevaluate recognized databases. This draft guidance is not final nor is it in effect at this time.