AMIA Response to FDA Draft Guidance on the Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics

In comments submitted to the FDA, AMIA said it supports FDA’s efforts to develop modern, flexible and adaptive regulatory approaches to the oversight of NGS-based tests as part of the Precision Medicine Initiative (PMI).  This support notwithstanding, AMIA noted a lack of standards – for ontologies, metadata and other technical aspects of using human genetic variant databases for NGS-based diagnostics.