ASH Issues Recommendations to Improve FDA’s Guidance on NGS-based Tests for Germline Diseases

ASH submitted comments to the Food and Drug Administration (FDA) supporting the Agency’s draft guidance for Next Generation Sequencing (NGS)-based tests for germline diseases. ASH’s comments ask for clarification and make additional recommendations for important aspects worth including in the final guidance so that NGS-based tests can be effectively designed, developed and validated for various hematologic diseases. The Society’s suggestions call for the FDA to: 1) clarify its review and approval of NGS-based tests for germline diseases; 2) include in the final guidance its regulation of other types of NGS-based tests (i.e., tumor genome sequencing) that are valuable for the identification of structural genetic alterations; 3) address variant interpretation and 4) develop a complimentary guidance for somatic diseases. ASH’s recommendations were developed with input from various committee members and built on the Society’s previous comments to the Agency on this topic.