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

Abstract

Newborn screening has existed for approximately four decades [1]. 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 [2–5]. At a time when newborn screening is recognized as a model for predictive medicine [6,7], 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.