scott gottlieb

Scott Gottlieb

The Food and Drug Administration said yesterday it will relax its review of some genetic tests that examine millions of different variants at the same time, and finalised two guidances designed to enhance collaboration among researchers, and drive the efficient development of novel NGS-based tests. 

So far, none of the broad next-generation sequencing tests has been approved, but as their cost drops, the agency believes they have more potential to help patients. 

“The rapidly falling cost of NGS is expanding its role in routine treatment decisions by allowing analysis of whole genomes of matched normal and tumour cells to identify potentially actionable mutations, including rare variants and tumour sub-clones”, Scott Gottlieb said in his speech, Thursday. “The same tools provide the way to target cancer with precision-guided treatments or better direct patients toward clinical trials for testing and promising compounds”. 

The guidance outline innovative regulatory approaches for the oversight of medical technologies that play an important role in the continued advancement of individualized, genetic-based medicine.

The first guidance describes an approach where test developers may rely on clinical evidence from FDA-recognised public databases to support clinical claims for their tests and provide assurance of the accurate clinical evaluation of genomic test results. Using FDA-recognised databases will provide test developers with an efficient path for marketing clearance or approval of a new test.

Whilst the second guidance provides recommendations for designing, developing, and validating NGS-based tests used to diagnose individuals with suspected genetic diseases. It clarifies how the FDA evaluates premarket submissions to determine a test’s analytical validity, including how well it detects the presence or absence of a particular genomic change.