Bioethical Implications of Whole-Genome Sequencing in Newborn Screening Programs

Abstract

Whole-genome and whole-exome sequencing are increasingly proposed as extensions, or eventual replacements, for biochemical newborn screening, but the shift raises ethical questions that the sixty-year-old implied-consent framework for newborn screening was not designed to answer. This review surveys the recent pilot literature -- including the BabySeq Project, the Early Check program,
NICU-focused rapid genomic sequencing trials, and Genomics England's Generation Study -- and the bioethical debate these programs have generated. It examines four unresolved fault lines: how parental proxy consent should function when the person sequenced cannot yet decide for themselves what they want to know; what a program owes families when it returns secondary findings unrelated to the screening indication; whether genomic newborn screening risks concentrating its benefits in already well-resourced health systems; and who retains interpretive authority over a genome retained long after the screening episode that generated it.
We find that no program reviewed here has resolved all four questions simultaneously, and that jurisdictions are currently working out genuinely different, defensible configurations rather than converging on one correct model. We conclude that treating genomic newborn screening as a simple extension of biochemical screening understates how substantially its underlying ethical structure has changed.