FDA launches Web-based precision medicine platform for next-generation sequencing

Users of precisionFDA will be able to access tools such as 'Genome in the Bottle,' a reference sample of DNA for validating genome sequences
By Mike Miliard
11:25 AM

The U.S. Food and Drug Administration on Tuesday launched the beta version of precisionFDA, its new collaborative platform for the exploration of next-generation gene sequencing.

First announced in August, the platform features more than 20 public and private sector participants including National Institutes of Health, National Institute of Standards and Technology, Centers for Disease Control and Prevention, Broad Institute, Intel, Illumina, 23andMe and more.

[See also: Big data: the lifeblood of precision medicine.]

The platform is billed by FDA as a "bold and innovative step towards advancing the regulatory science for precision medicine."

In a blog post, Taha A. Kass-Hout, MD, chief health informatics officer at FDA, wrote the Web-based portal "will allow scientists from industry, academia, government and other partners to come together to foster innovation and develop the science behind a method of 'reading' DNA known as next-generation sequencing."

Next-generation sequencing enables researchers to compile a "vast amount of data on a person's exact order or sequence of DNA," he added. "Recognizing that each person's DNA is slightly different, scientists can look for meaningful differences in DNA that can be used to suggest a person's risk of disease, possible response to treatment and assess their current state of health. Ultimately, what we learn about these differences could be used to design a treatment tailored to a specific individual."

[See also: Orion gets in precision medicine game with Amadeus.]

Users of precisionFDA will be able to access tools such as "Genome in the Bottle," a reference sample of DNA for validating genome sequences developed by NIST. They can compare results with previously validated references, share them with other users, track changes and obtain feedback from other platform participants.

The hope is to grow this community and improve the usability of precisionFDA in the coming months and years, Kass-Hout said.

"One way we'll achieve that is by placing the code for the precisionFDA portal on the world's largest open source software repository, GitHub, so the community can further enhance precisionFDA's features."

Twitter: @MikeMiliardHITN