FDA issues draft guidances on next gen sequencing

By Melissa Fassbender contact

- Last updated on GMT

The work will help advance the entire field of genomic medicine. (Image: iStock/BernardaSv)
The work will help advance the entire field of genomic medicine. (Image: iStock/BernardaSv)

Related tags: Genetics

The FDA has issued two new guidances as part of the President’s Precision Medicine Initiative.

As part of the Precision Medicine Initiative (PMI), the FDA’s role is to create regulatory processes that encourage advances in genomic testing, while ensuring safety.

The FDA is adapting its regulatory approach to anticipate and support the needs of rapidly evolving novel technologies​,” an FDA spokesperson told us.

Genomics, predominantly high-throughput sequencing and characterization of expressed human genes, is creating new opportunities for drug discovery.

Next generation sequencing (NGS) now allows researchers to scan a person’s DNA to detect genomic variations – a technique that contains the equivalent of millions of tests in one.

According to Jeffrey Shuren, M.D., J.D., director of the FDA’s Center for Devices and Radiological Health, the draft recommendations are based on input received from genomics experts, industry, health care providers and patients from four public workshops and other outreach opportunities.

The first draft guidance​ addresses the potential for using FDA-recognized standards to demonstrate analytical validity. “The use of recognized consensus standards allows for variations in development and validation and accommodates the expected rapid evolution of NGS technologies​,” according to the FDA.

The second draft guidance​ describes an approach wherein test developers may rely on clinical evidence from FDA-recognized public genome databases to support clinical claims for their tests.

The FDA spokesperson explained, “Additionally, this work is critical to the genomics community in order to advance the entire field of genomic medicine well beyond the scope of the PMI​.”

The administration is currently seeking public comments on the draft guidances during the 90-day comment period.


In addition to our work on the two guidances, we have been sponsoring a cloud-based research and development web portal called precisionFDA​,” an FDA spokesperson told us.

The portal allows test developers, academic centers, researchers, scientists, standard-setting organizations and others to share genetic information and compare various tools or methods to identify and analyze genetic variants.

To date, 600 organizations have signed up to participate since precisionFDA foundation in 2015, including companies such as LabCorp, Intel, and AstraZeneca.

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