FDA Issues Guidances to Advance Development of Novel Genetic-Based Tests


The guidances provide recommendations for the development and validation of tests that use next generations sequencing.

Officials with the FDA finalized 2 guidances to advance the creation of novel genetic and genomic-based tests, which will be crucial to driving the development of individualized, precision medicine, according to a press release.

The policies provide recommendations for designing, developing, and validating tests that use the technology, called next generation sequencing (NGS) to diagnose genetic diseases and guide medical treatments, according to the agency.

NGS works by examining an individual’s DNA to detect genomic variations that may determine whether they have or is at risk of developing a genetic disease, and in certain cases, may help to inform treatment decisions, according to the FDA. NGS is innovative because it can examine millions of DNA changes in a single test, unlike traditional diagnostics that can only detect changes associated with a single disease or condition.

In the first guidance, “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics,” the FDA outlines a strategy in which product developers can use FDA-recognized public databases to support the clinical validation of NFS tests that they are developing.

The second guidance, “Considerations for Design, Development, and Analytical Validation of Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVD) Intended to Aid in the Diagnosis of Suspected Germline Diseases,” provides recommendations on designing, developing, and validating NGS-based tests used to diagnose individuals with suspected genetic diseases.

According to the agency, the guidances are intended to help provide accessible information about genetic variants to provide a more efficient path to market.

“As disease detection technologies rapidly evolve, so too must the FDA’s approach to reviewing these new innovations,” FDA Commissioner Scott Gottlieb, MD, said in the press release. “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.”


FDA finalizes guidances to accelerate the development of reliable, beneficial next generation sequencing-based tests [news release]. FDA’s website. https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm604462.htm. Accessed April 12, 2018.

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