Newborn screening: Evolving challenges in an era of rapid discovery
Newborn screening is designed for presymptomatic identification of serious conditions for which there are effective treatments. Because newborn screening programs in the United States are operated by states, there has historically been considerable cross-state variability in screened conditions and thus a need for a mechanism to guide states.
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children, which was appointed by the Secretary of the US Department of Health and Human Services (DHHS), conducts a rigorous evidence-based review of nominated conditions with 4 primary considerations: (1) the condition represents a significant public health problem, (2) there is an accurate and low-cost screening test, (3) treatments exist with proven efficacy, and (4) states are capable of screening and follow-up.
After considering the magnitude and the certainty of the net benefit and feasibility of implementation, the committee makes a recommendation to the DHHS Secretary, who determines whether the condition should be added to the Recommended Uniform Screening Panel (RUSP).
Bailey, D., & Gehtland, L. (2015). Newborn screening: Evolving challenges in an era of rapid discovery. JAMA, 313(15), 1511-1512. DOI: 10.1001/jama.2014.17488