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# 2 New Genetic Disease-Based Test Guidances
- URL: https://www.fdaweb.com/2-new-genetic-disease-based-test-guidances/
- Published: 2018-04-12T12:00:00.000Z
- Updated: 2026-09-14T23:58:39.000Z
- Author: David McFarland
- Tags: Devices, #legacy-id-D5141206

FDA has finalized two guidances intended to drive development of next generation sequencing (NGS) that scans an individual’s DNA to diagnose genetic diseases and guide medical treatment. An agency [statement](https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm604462.htm?utm%5Fcampaign=04122018%5FPR%5FFDA%20finalizes%20guidances%20sequencing%20based%20tests&utm%5Fmedium=email&utm%5Fsource=Eloqua) (includes links to the guidances) says the documents provide recommendations for designing, developing, and validating tests that use NGS.

“As disease detection technologies rapidly evolve,” says FDA commissioner **Scott Gottlieb**, “so must FDA’s approach to reviewing these new innovations. The new policies issued today provide a modern and flexible framework to generate data needed to support FDA’s review of NGS-based tests, and give developers new tools to support the efficient development and validation of these technologies.”

The first guidance, *Use of Public Health Genetic Variant Databases to Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics*, describes an approach through which test developers may rely on clinical evidence from FDA-recognized public databases to support clinical claims for their tests and help 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,” the statement says.

The second guidance, *Consideration 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*, describes what the agency would look for in premarket submissions to determine a test’s analytical validity, including how well the test detects the presence or absence of a particular genomic change.

FDA says issuance of the final guidances was based on extensive feedback from the public and stakeholders who are developing NGS-based technologies.