Guidance for Stakeholders and Food and Drug Administration Staff Document issued on April 13, 2018.
The field of genomic testing is dynamic, building off of increasing amounts of data and a rapidly evolving technology base. Next-Generation Sequencing offers multiple approaches for the investigation of the human genome, including sequencing of the whole genome, exome, and transcriptome. While current regulatory approaches are appropriate for conventional diagnostics that measure a limited number of analytes associated with a disease or condition, the new sequencing technologies used in genomic testing can examine millions of DNA variants at a time, and thus warrant a flexible approach to oversight that is adapted to the novel and evolving nature of these tests.
The Agency’s intent is to optimize its approach to regulatory oversight for Next Generation Sequencing (NGS) in vitro diagnostic (IVD) tests to support the needs of the rapidly evolving novel technologies in genomic medicine while at the same time meeting its critical mandate to ensure that medical devices have a reasonable assurance of safety and effectiveness.
The scope of Next Generation Sequencing(NGS)
This guidance document provides recommendations for designing, developing, and validating NGS-based tests intended to aid clinicians in the diagnosis of symptomatic individuals with suspected germline diseases.
