The adoption of next generation sequencing (NGS) in research and clinical practice has led to a rapidly expanding catalog of novel and rare genetic variants. However, the lack of robust statistical evidence to link novel and rare variants to specific phenotypes makes variant interpretation difficult. This is critically important as manufacturers of in vitro diagnostic tests (IVD) must provide evidence that a test supports its claimed intended use to the Food and Drug Administration (FDA).
With the goal to adopt an adaptive regulatory approach to NGS tests the FDA is holding a Public Workshop today, November 13, to discuss the role of public genetic databases in establishing the clinical relevance of rare and novel variants. Michelle Whirl-Carrillo, Associate Director of PharmGKB, is on Panel 2 to discuss database curation and clinical interpretation of genetic test results at 11:00 am EST.
For more information, including an agenda and a link to a webcast of the workshop, click on the link below: