The Krabbe Conundrum Is Really a Newborn Screening Conundrum

In this issue of JAMA Pediatrics, Bailey argues that “The Krabbe conundrum is a harbinger of a future in which most screening decisions will be difficult and contentious….” We disagree. Krabbe disease is not a harbinger of the future—it is the exemplar of newborn screening (NBS) in the 21st century. The issues Bailey highlights (paucity of har ms data, narrow benefit construct, and the calculus of net benefit) are NBS—not Krabbe—conundrums, and they have surfaced during the review of nearly every condition added to the Recommended Uniform Screening Panel (RUSP) since its 2010 inception—and before. These conundrums remain unsolved be cause they are fueled by persistent structural and societal factors: a quasi-mandatory population-based child screening program with limited parental consent, the clinical challenges of screening for rare disease in a population, and ongoing technological advances in testing and therapeutics. Solvin g these conundrums will require broadening NBS’s role to one that embraces a learning health system model.
Source: JAMA Pediatrics - Category: Pediatrics Source Type: research