FDA launches beta version of precisionFDA, next generation gene sequencing platform

The U.S. Food and Drug Administration has launched the beta version of precisionFDA, the collaborative platform for the exploration of next-generation gene sequencing 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 and 23andMe.

FDA called the platform a "bold and innovative step towards advancing the regulatory science for precision medicine."

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," Taha A. Kass-Hout, MD, FDA's chief health informatics officer, wrote in a blog post

Researchers will be able to compile a "vast amount of data on a person's exact order or sequence of DNA," according to Kass-Hout. "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."

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

FDA plans to grow the community and improve the usability of precisionFDA, said Kass-Hout. "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."

Beth Walsh,

Editor

Editor Beth earned a bachelor’s degree in journalism and master’s in health communication. She has worked in hospital, academic and publishing settings over the past 20 years. Beth joined TriMed in 2005, as editor of CMIO and Clinical Innovation + Technology. When not covering all things related to health IT, she spends time with her husband and three children.

Around the web

Compensation for heart specialists continues to climb. What does this say about cardiology as a whole? Could private equity's rising influence bring about change? We spoke to MedAxiom CEO Jerry Blackwell, MD, MBA, a veteran cardiologist himself, to learn more.

The American College of Cardiology has shared its perspective on new CMS payment policies, highlighting revenue concerns while providing key details for cardiologists and other cardiology professionals. 

As debate simmers over how best to regulate AI, experts continue to offer guidance on where to start, how to proceed and what to emphasize. A new resource models its recommendations on what its authors call the “SETO Loop.”