FDA drafts guidances for oversight of next-generation sequencing

A column of DNA

The U.S. Food and Drug Administration announced draft guidances for the oversight of next-generation genomic sequencing (NGS). These guidances help to streamline oversight of NGS tests, which aim at detecting medically important differences in an individual’s genomic makeup.

NGS scans a person’s DNA to detect genomic variations. These variations can help determine if a person is at risk for disease or inform treatment decisions. While conventional diagnostics measure limited factors such as blood glucose or cholesterol levels, the announcement noted that NGS takes into account millions of DNA variants at once.

Because of this huge number of variants, oversight needs to be “adapted to the novel nature of these tests,” the FDA announcement said.

“Targeting the right treatments to the right patients at the right time is the goal of the President’s Precision Medicine Initiative,” FDA Commissioner Dr. Robert Califf said in a statement. “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.”

The announcement noted that once finalized, the guidelines will ensure that those who adhere to them will have “appropriate flexible and adaptive regulatory oversight of these tests” and will offer variation in development, along with validation and accommodation as NGS tech evolves.

The first draft guidance offers recommendations for designing, developing and validating NGS tests in regards to hereditary diseases. It also makes note of the potential for FDA-recognized standards to be used to demonstrate analytical validity, which essentially is how accurately a test predicts the existence of a particular genomic change.

The second draft guidance addresses using clinical evidence from FDA-recognized public genome databases to support clinical claims, which in turn aid in marketing clearance or approval.

“The draft guidances are an important step in the development of NGS-based tests,” said Dr. Francis Collins, director of the National Institutes of Health. “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 effort to regulate NGS-based tests is in support of the Precision Medicine Initiative, which was launched by the White House in early 2015, the announcement noted. According to the announcement, the PMI is “an innovative approach to developing a new kind of health care that takes into account individual differences in people’s genes, environments and lifestyles.”

The FDA will accept public comment on the draft guidances for a 90-day public comment period.

- here's the press release

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