Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics : Guidance for Stakeholders and Food and Drug Administration Staff

Issue Date: April 13, 2018
Issued by: Center for Devices and Radiological Health
Topic(s): Premarket, Laboratory Tests, IVDs (In Vitro Diagnostic Devices), Molecular and Clinical Genetics
Status: Final

Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics : Guidance for Stakeholders and Food and Drug Administration Staff

This guidance document describes one part of FDA’s efforts to create a flexible and adaptive regulatory approach to the oversight of next generation sequencing (NGS)-based tests. The goal of this effort is to help ensure patients receive accurate, reliable, and clinically meaningful test results, while promoting innovation in test development. This 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 both NGS-based tests and genetic and genomic tests based on other technologies. Publicly accessible genetic databases may be useful to support the clinical validity of NGS tests as well as single gene or panel tests that use other technology.

Download the Guidance Document