FDA www.fda.gov will play an important role in the future when an individual’s medical care is tailored in part based on their unique characteristics and genetic make-up. This will require the FDA to work collaboratively to detect and interpret genetic variants. Today, the FDA is developing an informatics community and support for what is called “precisionFDA”.
Next Generation Sequencing (NGS) is able to sequence a person’s genome quickly but features of this technology have created regulatory issues for FDA. NGS-based tests may be used in many ways and massive amounts of data may be obtained on a patient. FDA is looking for a better way to show that the NGS tests meets certain standards for quality. This will require using a streamlined approach when evaluating NGS-based diagnostics.
To do this, DNAnexus http://dnanexus.com, a cloud-based genome informatics and data management company was awarded a research and development contract by FDA’s Office of Health Informatics to build “precisionFDA”.
Specifically, “precisionFDA” will:
- Create a community around open-source economic analysis pipelines, reference data, and analytical processing resources
- Determine the appropriate and auditable levels of security, privacy, and governance control needed to ensure the protection of collaborators’ intellectual property and protected information
- To provide an initial set of reference genomic data models and reference analysis pipelines
DNAnexus expects that the platform will be broadly used by NGS-based test providers, standards-making bodies, pharmaceutical and biotechnology companies, healthcare providers, academic medical centers, research consortia, and patient advocacy groups.
“DNAnexus is proud to be delivering “precisionFDA” and creating a community around open-source genomic analysis pipelines, reference data, and analytical processing resources,” said Richard Daly, CEO of DNAnexus.
He adds, “It is predicted that this new model for evaluating NGS-based tests will open up the process to a broader range of community members who will benefit from open source reference data and applications and pay-for-use compute and storage resources which should level the playing field for smaller test developers.”