FDA Advances Precision Medicine Initiative by Issuing Draft Guidances on Next-Generation Sequencing–Based Tests

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In support of the President’s Precision Medicine Initiative, on July 6, the U.S. Food and Drug Administration (FDA) issued two draft guidances. When finalized, they will provide a flexible and streamlined approach to the oversight of tests that detect medically important differences in a person’s genomic makeup.

The powerful new technology, known as next-generation sequencing, can scan a person’s DNA to detect genomic variations that may determine whether a person has or is at risk of disease or may help to inform treatment decisions. While current regulatory approaches are appropriate for conventional diagnostics that measure a limited number of substances associated with a disease or condition, such as blood glucose or cholesterol levels, the new sequencing technologies can examine millions of DNA variants at a time and thus require a flexible approach to oversight that is adapted to the novel nature of these tests.

“Targeting the right treatments to the right patients at the right time is the goal of the President’s Precision Medicine Initiative,” said FDA Commissioner Robert Califf, MD. “Soon, patients will have a much more complete picture of their health than in the past, informed by their genetic and genomic makeup. The FDA is preparing for this exciting approach at multiple levels.”

Two Documents

The first draft guidance, titled “Use of Standards in FDA’s Regulatory Oversight of Next-Generation Sequencing–Based In Vitro Diagnostics Used for Diagnosing Germline Diseases,” provides recommendations for designing, developing, and validating next-generation sequencing–based tests for rare hereditary diseases and addresses the potential for using FDA-recognized standards to demonstrate analytical validity, which is how well a test predicts the presence or absence of a particular genomic change.

The second draft guidance, titled “Use of Public Human Genetic Variant Databases to Support Clinical Validity for Next-Generation Sequencing–Based In Vitro Diagnostics,” describes an approach wherein test developers may rely on clinical evidence from FDA-recognized public genome databases to support clinical claims for their tests and provide assurance of accurate clinical interpretation of genomic test results—an easier path for marketing clearance or approval. 

“The draft guidances are an important step in the development of [next-generation sequencing]-based tests,” said Francis Collins, MD, PhD, Director of the National Institutes of Health (NIH). “NIH sees great value in these guidances and encourages test developers to adopt the best practices outlined in the guidances so that high quality tests can become available to the patients who need them.”

This adaptive approach to regulating next-generation sequencing–based tests is part of the FDA’s engagement in the Precision Medicine Initiative. ■




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