Accelerating the Pace of Newborn Screening Research to Advance Disease Understanding and Improve Health Outcomes:: Key Efforts of the Newborn Screening Translational Research Network (NBSTRN)

Abstract

Each year in the United States, neonatal screening leads to approximately 1 in 220 newborns being identified with a condition that requires treatment, and in some cases, life-saving interventions. Research that discovers new technologies to screen, diagnose, and treat diseases helps to expand the number of conditions that are candidates for nationwide screening. The National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Research Program funds research to advance newborn screening (NBS). A key effort is the Newborn Screening Translational Research Network (NBSTRN). For fourteen years, the American College of Medical Genetics and Genomics (ACMG) has developed and coordinated the activities of the NBSTRN. This article provides an overview of the NBSTRN.