Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy

Abstract

Newborn screening (NBS) is a public health service provided for all babies born in the United States and in most countries of the developed world. A series of tests are applied to the blood taken from newborn babies to detect genetic and metabolic disorders that can be treated if identified early. With early treatment and therapy, the affected babies can usually live a normal, healthy life. Timing for sampling, testing, and reporting is vital for NBS to function as an effective system. In order to be an effective system, the evolution of science, technology, and policy gradually had to come into a synchronous partnership, where the discovery of new genetic disorders led to timely development of technology for screening, which is supported by policy and implemented into practice. The timely “dance” of these partnerships in an era of personalized health and medicine forms the integrated approach supporting NBS. This review will include a brief history of scientific development, policymaking, and the economic consideration in the expansion of the NBS.