Wednesday, July 6, 2016

FDA Releases Guidance for NGS Testing

On July 6, 2016, "in support of the President's Precision Medicine Initiative," FDA released a pair of draft guidances for next generation sequencing (NGS).

The guidance aim to reflect a modern, "flexible and streamlined" approached to genomic test regulation.  They also help the agency deal with the shift from single specified analytes (e.g. cholesterol in mg/ml) to very broad based testing with limitless variants in possible results.

One guidance focuses on standards for public genetic variant databases to "support claims for their tests" on the way to "marketing clearance or approval" by the FDA.  The second guidance focuses on the use of reference standards (genome in the bottle) for NGS tests, especially for rare diseases and for demonstrating analytical validity.

The FDA's press release webpage is here.   The database guidance is here.   The standards for germline diseases guidance is here.  The guidances are 14 and 29 pages, respectively.  Public comment runs for 90 days, or until about October 5.  The guidances aren't for virus or microbial NGS testing, but a May 2016 guidance already addressed that, here.  Early remarks in Forbes, here.  For a 15 minute interview with FDA's Liz Mansfield on Mendelspod, here.

The start date for the FDA regulation of lab developed tests is here - whoops, that hasn't been released yet.


On June 30, 2016, Genomeweb had announced that the guidances were nearly release stage (here).  The article includes additional context.

On September 26, 2016, Genomeweb discussed FDA official David Litwack's conference comments that FDA wants guidance to come from the community (here).