FDA Mulls Regulatory Approach for Next Generation Sequencing

As part of President Obama’s Precision Medicine Initiative, the U.S. Food and Drug Administration is developing a new approach for evaluating next generation sequencing technologies—tests that rapidly sequence large segments of a person’s DNA, or even their entire genome.

Next generation sequencing involves a single test that can potentially identify thousands—even millions—of genetic variants carried by a single individual helping to diagnose or predict a person’s risk of diseases, and assisting physicians in determining the best course of treatment.

While next generation sequencing has the potential to accelerate “personalized” or “precision” medicine, it also poses challenging issues for the FDA. Seen as integral to the future of medicine, the agency has been reviewing the current regulatory landscape involving next generation sequencing as the technology moves rapidly from research to clinical practice.

“Most diagnostic tests follow a one test—one disease paradigm that readily fits FDA’s current device review approaches for evaluating a test’s analytical and clinical performance,’ writes FDA Commissioner Margaret Hamburg, M.D., in a Jan. 30 blog. “Next generation sequencing produces a massive amount of data that may be better handled using a new approach.”

According to the regulatory agency, its new approach will facilitate the generation of knowledge about which genetic changes are important to patient care and foster innovation in genetic sequencing technology, while ensuring that the tests are accurate and reliable. However, for now, FDA is still evaluating its options.

In December, the agency published a preliminary discussion paper posing a series of questions about how to best assure that tests are not only accurate and reliable, but are available for patients as soon as possible. And, FDA is also soliciting input through a Feb. 20 public meeting on next generation sequencing.  

“Whatever approach FDA ultimately adopts must be selected with care to ensure continued innovation in the advancement of medical care and public health for this still evolving technology,” Hamburg concludes.

On Jan. 30, the Obama administration announced details of its Precision Medicine Initiative, a new research effort designed to improve care and speed the development of new treatments tailored to specific characteristics of individuals or the genetic profile of an individual’s tumor.  The initiative will leverage advances in genomics, emerging methods for managing and analyzing large data sets, and health information technology to accelerate biomedical discoveries. As part of the effort, a million Americans are being sought to volunteer to contribute their health data.