Newborn screening: rationale for a comprehensive, fully integrated public health system

Abstract

Newborn screening has existed for approximately four decades. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part public health system involving education, screening, diagnostic follow-up, treatment/management, and system evaluation. At a time when newborn screening is recognized as a model for predictive medicine, it also faces critical challenges that will determine its future credibility and viability. In order to understand these challenges, it is helpful to review briefly the history of newborn screening.