FDA advances Precision Medicine Initiative by issuing draft guidance’s on next generation sequencing-based tests

In support of the President’s Precision Medicine Initiative, the U.S. Food and Drug Administration issued two draft guidance’s that, when finalized, will provide a flexible and streamlined approach to the oversight of tests that detect medically important differences in a person’s genomic makeup. The powerful new technology, known as next generation sequencing (NGS), can scan a person’s DNA to detect genomic variations that may determine whether a person has or is at risk of disease or may help to inform treatment decisions. The first draft guidance, titled “Use of Standards in FDA’s Regulatory Oversight of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs) Used for Diagnosing Germline Diseases” provides recommendations for designing, developing and validating NGS-based tests for rare hereditary diseases, and addresses the potential for using FDA-recognized standards to demonstrate analytical validity, which is how well a test predicts the presence or absence of a particular genomic change. The second draft guidance, titled “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next Generation Sequencing (NGS)-Based In Vitro Diagnostics” describes an approach wherein test developers may rely on clinical evidence from FDA-recognized public genome databases to support clinical claims for their tests and provide assurance of accurate clinical interpretation of genomic test results – an easier path for marketing clearance or approval. The FDA encourages public comments on the draft guidance’s during the 90-day comment period.