The US Food and Drug Administration (FDA) has issued two sets of guidance to drive the design, development and validation of new genetic and genomic-based tests using next generation sequencing (NGS).
NGS works by looking at a person’s DNA to detect genomic variations that may determine whether a person has, or is at risk of developing, a genetic disease, and can help inform treatment decisions.
The first set of guidance entitled ‘Use of public human genetic variant databases to support clinical validity of genetic and genomic-based in vitro diagnostics’, describes an approach where test developers can use clinical evidence from FDA-recognised public databases to provide assurance of the accurate clinical evaluation of genomic test results.
The second set of guidance, ‘Considerations for design, development, and analytical validation of next generation sequencing (NGS)-based in vitro diagnostics (IVDs) intended to aid in the diagnosis of suspected germline diseases’, provides recommendations on developing NGS-based tests to diagnose individuals with suspected genetic diseases. It also sets out what the FDA will be looking for in a pre-market submission to assess the analytical validity of a test.
“As disease detection technologies rapidly evolve, so too must the FDA’s approach to reviewing these new innovations,” said Scott Gottlieb, FDA Commissioner.
“The new policies issued [on 13 April 2018] 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.”