FDA Takes Steps to Advance Genomics Technology, Encourage NGS-based Test Innovation

Guest Post: Laura M. Koontz, PhD, U.S. Food and Drug Administration 

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Laura M. Koontz, PhD, U.S. Food and Drug Administration (courtesy Dr. Koontz)

Genomics is advancing at an unprecedented pace, a fact that will come as no surprise to members of ASHG who work on the front lines of this exciting field. Over the past few years, the FDA has been working with stakeholders from across the genomics community, including ASHG, with the goal of applying our regulatory authorities to genomics in ways that encourage innovation and ensure that tests provide accurate and meaningful results to patients. Recently, we announced two new FDA Guidances on next generation sequencing (NGS)-based in vitro diagnostics that are intended to encourage further development of these powerful tests and enable more efficient regulatory review by FDA.

The first guidance, “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics,” describes an approach where test developers may rely on clinical evidence from FDA-recognized public databases to support clinical claims for their tests and provide assurance of the accurate clinical evaluation of genomic test results. Using FDA-recognized databases will provide test developers with an efficient path for marketing clearance or approval of a new test. Further, FDA believes that this guidance will encourage crowdsourcing of NGS evidence generation, curation, and data sharing, advancing the development of high quality precision medicine treatments and diagnostics.

The second 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,” discusses FDA’s considerations for analytical validation of NGS-based tests intended to help diagnose suspected germline diseases. The Agency believes the analytical validation recommendations laid out in this guidance could spur the creation of consensus standards for NGS-based tests that will be developed by the community and potentially recognized by FDA. Moreover, the guidance articulates FDA’s belief that NGS tests for germline diseases could potentially be classified in class II (moderate risk)  based on conformance to the recommendations in this guidance or to standards that address these recommendations, which would allow FDA to consider exempting them from premarket review.

The Agency believes these guidances will provide test developers with a more efficient path to market, improving FDA’s ability to protect public health by ensuring these tests provide accurate and meaningful results, while at the same time speeding patient access to NGS assays by lowering barriers to innovation. And importantly, the guidances will help to give patients, payers, researchers, and clinicians greater confidence that NGS platforms can reliably be used to inform critical treatment decisions and improve patient outcomes.

To learn more about these two guidances, please join the FDA for a webinar on Thursday, May 24, from 2:00-3:30 p.m. U.S. Eastern Time.

Laura Koontz, PhD, is a member of the Personalized Medicine Staff in the Center for Devices and Radiological Health at the U.S. Food and Drug Administration. She has a PhD in Molecular Biology and Genetics and was the 2012-2013 ASHG-NHGRI Genetics & Public Policy Fellow.

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