FDA Shares Guidances to Streamline NGS Regulation

The US Food and Drug Administration (FDA) has finalized 2 documented recommendation policies they anticipate will drive the development of novel DNA-scanning technology to improve genetic disease diagnosis and treatment guidance.

Their new efforts to progress next generation sequencing (NGS) will include recommendations for designing, developing, and validating tests that use the technology. The first guidance, “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics,” sets an approach for test developers to rely on clinical evidence from FDA-recognized public databases to support clinical claims for tests, while also help provide assurances of the accurate clinical evaluation of genomic results.

The guidance states that its intent is to “help ensure patients receive accurate, reliable, and clinically meaningful test results, while promoting innovation in test development.” It advocates for secure, transparent database collection, a preference for individual and concise data, and sound evaluation of all results.

Its second guidance, “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,” intends to guide developers on the backing of its “successful and widely used standards recognition program that facilitates the use of consensus standards to meet premarket submission requirements for devices.”

The new guidances come from the result of public feedback, as well as that of stakeholders who are developing NGS-based technologies. They come on the tail of 2017, when the FDA streamlined the development and review process of NGS tests through the allowance of third-party testing and clearance recommendation, as well as the outlining of standardized development criteria for carrier screening tests.

Jeffrey Shuren, MD, director of the FDA’s Center for Devices and Radiological Health, said the rapidly growing market of NGS clinical technologies is promising, but also one that stores genetic variant information in a publicly-inaccessible manner.

“Today’s release of the FDA’s final guidance on genetic variant databases will help change this paradigm by encouraging data sharing and the accumulation in public databases of evidence supporting the clinical validity of genomic tests to help provide an even more efficient path to market,” Shuren said.

The FDA’s involvement with NGS devices and tests is still young. It first approved a genetic health risk assessment tool from genetic testing company 23andME last spring, and commissioner Scott Gottlieb, MD, stated later that year that such tests present “unique challenges to FDA regulation.”

Aside from its popularized, simple genetic testing service, 23andMe has been among the industry leaders in pursuit of further clinical development. In September last year they announced the start of a 25,000-person study into the underlying genetic biology of psychiatric conditions including major depressive disorder and bipolar disorder.

In an interview with MD Magazine, Anna Faaborg, manager of 23andMe research communities, echoed the eventual sentiments of the FDA when discussing the potential of such research.

“The hope is to gain a greater understanding of how genetics is related to brain functions such as attention, decision-making and reaction time,” Faaborg said. “This knowledge of the biological underpinnings of disease could ultimately inform the development of novel, disease-modifying therapies.”

Gottlieb tweeted on Thursday that the FDA is simply just trying to keep up with the development of NGS technologies:

#FDA working diligently to ensure that our regulations are as nimble and sophisticated as the science driving Next Generation Sequencing technologies with release of two new guidances today on NGS development: https://t.co/QAz7Bepj82 pic.twitter.com/4l22BAnRpk

— Scott Gottlieb, M.D. (@SGottliebFDA) April 12, 2018

Such progress calls for amenable policies.

“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,” Gottlieb said in a statement.