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GUIDANCE DOCUMENT

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 April 2018

Final

Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics

Docket Number:
FDA-2016-D-1233
Issued by:
Guidance Issuing Office
Center for Devices and Radiological Health

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.


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You can submit online or written comments on any guidance at any time (see 21 CFR 10.115(g)(5))

If unable to submit comments online, please mail written comments to:

Division of Dockets Management (HFA- 305)
Food and Drug Administration
5630 Fishers Lane, Rm. 1061
Rockville, MD 20852

All written comments should be identified with this document's docket number: FDA-2016-D-1233.