Guidance on Next-Generation Sequencing-IVDs for Germline Diseases

Federal Register Notice: FDA is making available a draft guidance entitled Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases. As part of the White House’s Precision Medicine Initiative, FDA is providing its proposed approach on the content and possible use of standards in providing oversight for targeted and whole exome human DNA sequencing NGS-based tests intended to aid in diagnosing individuals with suspected germline diseases or other conditions. The guidance provides recommendations for designing, developing, and validating NGS-based tests for germline diseases, and also discusses possible use of FDA-recognized standards for regulatory oversight of these tests. To download this guidance, click here. To view this notice, click here.