Genomic newborn screening—a long road from pilot to public policy

Journal article

Genomic newborn screening (gNBS)—the use of genomic sequencing technologies in publicly administered, population-level neonatal screening programs—represents a substantial advancement in neonatal health assessment, heralding a new era of early disease detection and prevention. Until now, population-based detection of treatable disorders in newborns has been largely limited to metabolic and endocrine diseases, with the recent exception of spinal muscular atrophy. This limitation has stemmed primarily from technical constraints, as traditional screening methods rely on detecting excess metabolite in a newborn’s blood. gNBS, however, offers the possibility of substantially expanding newborn screening to include a broader range of treatable genetic conditions that would otherwise go undetected.

Authors: Boemer, F; Servais, L

• Publication status: Published
• Peer review status: Reviewed (other)
• Publisher: American Medical Association
• Journal: JAMA Pediatrics
• Volume: 179
• Issue: 12
• Pages: 1255-1256
• Place of publication: United States
• Publication date: 2025-10-06
• DOI: 10.1001/jamapediatrics.2025.3639
• EISSN: 2168-6211
• ISSN: 2168-6203
• Pmid: 41051765
• Language: English