FDA Provides New Guidance for Next-Generation Sequencing Test

The U.S. Food and Drug Administration (FDA) finalized two separate guidances for next-generation sequencing technologies. The regulatory agency said the new guidelines will help accelerate the development of individualized genetic-based medicine as personalized medicine becomes a more entrenched option for patients.

FDA Commissioner Scott Gottlieb said the new guidances were issued in order to keep up with the rapidly-advancing innovations in genetic sequencing. In a statement issued Thursday Gottlieb said the new policies issued by the agency "provide a modern and flexible framework" that is necessary to generate supporting data for reviews of next generation sequencing tests. Gottlieb also noted that the guidelines provide developers with new tools to "support the efficient development and validation of these technologies" as they look to market them.

On Twitter Thursday Gottlieb said the FDA is working diligently to "ensure that our regulations are as nimble and sophisticated as the science driving next-generation sequencing technologies…"

Next generation sequencing (NGS) examines DNA in order to detect genomic variations that could determine whether or not someone has or is at risk of developing a genetic disease. NGS can also help physicians determine a course of action when treating diseases. The FDA noted that NGS technology can look at millions of DNA changes in a single test to help determine the cause of a person’s disease or condition.

The first guidance issued is the "Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics." The FDA said the guidance describes an approach where developers can 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.

The second guidance issued by the FDA is "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." The guidance provides recommendations for designing, developing, and validating NGS-based tests used to diagnose individuals with suspected genetic diseases, the FDA said.

"The rapid adoption of NGS technologies in research and clinical settings is helping to identify countless new genetic variants. However, information about genetic variants is generally stored in a manner that is not publicly accessible. 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," Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health, said in a statement.

As the NGS technologies evolve the FDA said it remains dedicated to adapting its regulatory review capabilities in order to make them available to patients as efficiently as possible.

The new guidances follow last year’s FDA plan to streamline the development and review of a variety of genetic-based tests. In 2017 the FDA authorized a third-party option for conducting reviews NGS tumor profiling, as well as outlining standardized development criteria for carrier screening tests. That is expected to allow for marketing without prior agency review, the FDA said. Additionally, the FDA also established criteria for genetic health risk tests and proposed to allow their marketing after a one-time agency review.

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