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April 21, 2015

Newborn Screening: Evolving Challenges in an Era of Rapid Discovery

Author Affiliations
  • 1RTI International, Research Triangle Park, North Carolina
JAMA. 2015;313(15):1511-1512. doi:10.1001/jama.2014.17488

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.