The FDA issued two policies April 12 to establish approaches for the design and validation of next-generation sequencing tests.
Next-generation sequencing tests review a person's DNA to diagnose genetic diseases, primarily through the detection of genetic variants associated with a risk of developing a particular condition. In many cases, findings from these tests help to inform personalized treatment decisions for patients.
Here's what you need to know about the two guidances.
1. Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics. This guidance outlines an approach in which test developers use clinical evidence from FDA-recognized public databases to support the clinical validation of their next-generation sequencing tests. "Using FDA-recognized databases will provide test developers with an efficient path for marketing clearance or approval of a new test," according to an FDA statement.
2. Considerations for Design, Development and Analytical Validation of Next Generation Sequencing-Based In Vitro Diagnostics Intended to Aid in the Diagnosis of Suspected Germline Diseases. This guidance outlines what the FDA will look for in premarket submissions to determine the analytical validity of tests that use next-generation sequencing to diagnose individuals with suspected genetic diseases. The guidance provides recommendations for designing, developing and validating these tests.
"As disease detection technologies rapidly evolve, so too must the FDA's approach to reviewing these new innovations," said FDA Commissioner Scott Gottlieb, MD. "The new policies issued today provide a modern and flexible framework to generate data needed to support the FDA's review of NGS-based tests, and give developers new tools to support the efficient development and validation of these technologies."