Maximizing Benefits and Minimizing Harms: Diagnostic Uncertainty Arising From Newborn Screening

Abstract

Screening newborns for rare diseases for which effective treatments are available is a crucial public health practice. Indeed, the expansion of population-wide newborn screening (NBS) programs was named by the Centers for Disease Control and Prevention as 1 of the 10 great public health achievements in the first 10 years of the 21st century.1 Pivotal randomized controlled trials of NBS for cystic fibrosis (CF) revealed potential benefits,2,3 with evidence from the Wisconsin trial revealing that early ascertainment through screening could prevent severe malnutrition and improve long-term growth.2 NBS for CF is now widely implemented in many jurisdictions and is included in the influential US Recommended Uniform Screening Panel.4As Gray et al5 provocatively noted, however, “All screening programmes do harm; some do good as well, and, of these, some do more good than harm at reasonable cost. The first task of any public health service is to identify beneficial programmes by appraising the evidence.”5(p480) The current study by Gonska et al6 is an important example of ongoing research required to measure benefits and understand harms of NBS, thus supporting program improvement.Although the benefit of NBS for CF is unequivocal,7 there are potential harms to children and their families who receive false-positive or inconclusive results after a positive screen result. Although most false-positive findings are resolved in early infancy, with evidence mainly revealing transient psychosocial impacts that are mitigated with timely follow-up and effective communication,8,9 inconclusive results tend to be longer lasting. This is indeed the case for children identified through NBS as having a diagnosis of