Developer(s) FDA
DNAnexus License Open-source | Status Active | |
PrecisionFDA (stylized precisionFDA) is a cloud-based next-generation DNA sequencing (NGS) data platform developed by the United States Food and Drug Administration (FDA). It was designed as part of President Barack Obama's Precision Medicine Initiative in 2015. The platform allows researchers to upload and compare data against reference genomes, bioinformatics pipelines, and genomic data. Users may also use the service to verify their genetic tests against reference genomes. The platform's code is open source and available on GitHub.
Contents
History
President Barack Obama announced the formation of the Precision Medicine Initiative during the State of the Union Address in January 2015. In August 2015, the FDA announced the launch of precisionFDA as a part of the initiative. The FDA's Office of Health Informatics (previously responsible for the creation of OpenFDA) and DNAnexus (a California-based company specializing in cloud-based data analysis and management) were tasked with the development of the web platform. Taha Kass-Hout, the FDA's chief health informatics officer and the director of the office of health informatics, created and oversees the development of the project.
In November 2015, the FDA launched a "closed beta" version of the platform, giving select groups and individuals access to the portal. An open beta version of the platform was released in December 2015. In February 2016, the FDA announced that its first "consistency challenge," which tasked users with testing the reliability and reproducibility of standard gene mapping and variant calling tools like BWA, the Genome Analysis Toolkit, and Bowtie. By March 2016, the platform maintained 1,000 community members representing around 500 public and private organizations including the National Institutes of Health, the Centers for Disease Control and Prevention, 23andMe, Illumina, and the Broad Institute.
In April 2016, precisionFDA was awarded the top prize in the Informatics category at the Bio IT World Best Practices Awards.
Functionality
The precisionFDA portal is an open-source, cloud-based platform for collaborating and testing bioinformatics pipelines and data related to next-generation sequencing. Its code can be found on GitHub. The platform allows researchers to upload data from their own studies and analyze data uploaded by other researchers. The platform supports files such as reference genomes or genomic data, comparisons (quantification of similarities between sets of genomic variants), and apps (bioinformatics pipelines) that scientists and researchers can upload and work with. The long-term goal of the platform is to streamline the process of evaluating tests leading to medical patients being able to get precise care based on their own individual genomic data.