Genomics to Enhance Newborn Screening?

Review of WGS contribution to expanding newborn screening to actionable conditions undetectable by classical biochemical approaches

This Genetics in Medicine review evaluates the potential of genomic sequencing to enhance newborn screening, a major public health program enabling early detection of serious conditions before irreversible damage. WGS offers an additional platform capable of identifying actionable conditions undetectable by classical biochemical approaches. Detectable conditions, implementation challenges, and ethical considerations are discussed.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Genomic newborn screening is rapidly expanding with multiple pilot programs underway (BabySeq, BASE, etc.). This review provides a balanced synthesis of what WGS can and cannot add over current biochemical approaches — a reference article for teams considering genomic integration in regional screening programs.

Clinical impact: 3/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 0/1 · Publication status: 1/1 → Total: 7/10