Use of Standards in the Food and Drug Administration's Regulatory Oversight of Next Generation Sequencing-Based In Vitro Diagnostics Used for Diagnosing Germline Diseases; Draft Guidance for Stakeholders and Food and Drug Administration Staff; Availability

The Food and Drug Administration (FDA or Agency) is announcing the availability of the draft guidance entitled ``Use of Standards in FDA Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline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 As part of the White House's Precision Medicine Initiative (PMI),\1\ FDA is issuing this draft guidance to provide FDA's proposed approach on the content and possible use of standards in providing oversight for targeted and whole exome human DNA sequencing (WES) NGS-based tests intended to aid in the diagnosis of individuals with suspected germline diseases or other conditions. This document 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. These recommendations are based on FDA's understanding of the tools and processes needed to run an NGS-based test along with the design and analytical validation considerations appropriate for such tests. This draft guidance is not final nor is it in effect at this time. ---------------------------------------------------------------------------