FDA Issues Guidance on Next-Generation Sequencing

The U.S. Food and Drug Administration (FDA) finalized two guidance documents on recommendations for designing, developing, and validating tests that use next-generation sequencing (NGS) technology.

“As disease-detection technologies rapidly evolve, so too must the FDA’s approach to reviewing these new innovations,” said FDA Commissioner Scott Gottlieb, MD.

The first guidance, titled “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics,” provides product developers with FDA-recognized public databases and direction on how to use these data to support the clinical validation of the NGS tests they are developing.

The second guidance, titled “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,” describes what the agency expects in design, development, and validation of NGS-based tests in premarket submissions to determine a test’s analytical validity. This includes how well the test detects the presence or absence of a particular genomic change.

These guidance documents are based on feedback from the public and stakeholders developing NGS-based technologies. They serve as a framework for the agency’s creation of regulatory efficiencies in the development and review of NGS tests.

Source: U.S. Food and Drug Administration press release, April 12, 2018.