Serving the Family From Birth to the Medical Home

Abstract

Newborn screening in the United States is a public health program aimed at the early identification of conditions for which early and timely interventions can lead to the elimination or reduction of associated mortality, morbidity, and disabilities. This screening takes place within the context of a newborn screening system, and involves the following components: screening, short-term follow-up, diagnosis, treatment/management, and evaluation. Inherent to each of these components is an education process. The screening programs like these for the 4 million infants born each year in the United States have been heralded as successful and cost-effective.1–5 The newborn screening program's efficiency and effectiveness depends on the smooth integration of sample collection, laboratory testing, follow-up, diagnosis, timely treatment, and tracking of outcomes.6–11 The foundation and justification of newborn screening systems rest on the principles that testing procedures are readily available; technically feasible; economically sound; and clearly beneficial to affected newborns, their families, and to society.10,12–14 The universal acceptance of newborn screening for specified conditions over the past 3 decades attests to the undeniable benefits that flow from early testing and prompt, appropriate therapy. However, although newborn screening systems have succeeded in preventing morbidity and mortality, controversies, challenges, and opportunities continue. ### The History of Newborn Screening Newborn screening programs began in the early 1960s with the original work of Dr Robert Guthrie, who developed a screening test for phenylketonuria (PKU) and a system for collection and transportation of blood samples on filter paper.15,16 By 1962, Massachusetts launched a voluntary newborn PKU screening program that demonstrated the feasibility of mass genetic screening.17 Initially, newborn screening for PKU was not a health department role or a legislated activity. Health professionals were slow to adopt the practice of screening for PKU, and the responsibility for screening was not defined (eg, should it be the responsibility of …