The blurred distinction between treatable and untreatable conditions in newborn screening

Abstract

Newborn screening is increasingly possible for conditions that do not have medical treatments that must be provided early in order to be effective. This raises a fundamental question of what information should be disclosed to parents. Historically the potential for treatment has been essential before conditions are included in newborn screening. Here I argue that the distinction between treatable and untreatable conditions is not a clear one and may be less useful in the future. I give examples of treatments that could be used even with 'untreatable' conditions, envision a possible future of newborn screening, and suggest research and policy questions that need to be answered quickly so that screening can expand in a rational fashion