CDC Public Health Genomics Blog, by David Jones, et. al.
As the capability to sequence an individual’s genome or exome continues to expand—and the cost continues to fall—more states are considering how next generation sequencing (NGS) could support their newborn screening programs, which test approximately four million babies born in the United States each year for congenital, treatable diseases.
Results from NGS can help enhance newborn screening programs by providing more information beyond traditional biochemical and other tests. Not all states have the expertise needed to interpret NGS results, but the Centers for Disease Control and Prevention (CDC) is developing the Enhancing Data-driven Disease Detection in Newborns (ED3N) system, which has the potential to help. ED3N is being designed to enable secure upload of NGS data in any format and could benefit from data standards that address efficiency and interoperability. A recent pilot project supported by the Department of Health and Human Services Office of the National Coordinator for Health Information Technology (ONC), confirmed that an existing open-source data standard (Health Level 7 International® (HL7®) Fast Healthcare Interoperability Resources® (FHIR®) can successfully be used to transmit newborn screening NGS data.