FDA Leans on DNAnexus for Platform to Evaluate Bioinformatics

August 6, 2015 | Diagnostics based on next-generation sequencing have forced the FDA to bend some of its standards for proving the analytical and clinical value of new medical tests before they come to market, thanks to the huge amount of DNA information today's sequencing technologies provide. In clearing a few key products, like Illumina's MiSeqDX sequencer and 23andMe's test for carrier status in Bloom syndrome, the FDA has set important precedents in the evaluation of these technologies — such as a willingness to look at well-curated databases and the scientific literature, rather than clinical trials, to demonstrate that a genetic variant is linked to disease. Now, expecting a much larger volume of future submissions based on this technology, the agency is partnering with DNAnexus to create an online platform, precisionFDA, to help companies preparing to bring new tests to the FDA evaluate the accuracy of their pipelines.

The platform will offer access to standard DNA reference data provided by the Genome in a Bottle Consortium, analytical tools to compare against proprietary software, and environments where new data and tools can be uploaded either privately, or for sharing with the FDA, collaborators, and the public.

PrecisionFDA is scheduled to open this December. It goal of reducing uncertainty in regulatory submissions that deal with next-generation sequencing is connected to the federal government's wider Precision Medicine Initiative, which aims to foster technologies that tailor medical treatments to patients' individual biology.