A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities

Can genomic sequencing on newborn dried blood spots enable early detection of actionable genetic conditions beyond traditional newborn screening?In this cohort study of 4054 newborns, 13.0% received at least 1 possible diagnosis based on pathogenic or likely pathogenic variants detected by a 521-gene whole exome sequencing–based panel. Genomic screening demonstrated feasibility, high acceptability, and potential clinical utility, with possible implications for early intervention, and identification of at-risk family members.These results suggest that neonatal mass genomic sequencing is feasible and can complement traditional biochemical screening both by confirming and expanding the early detection capability of actionable genetic conditions.

Corresponding Author: Paola Quarello, PhD, Pediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children’s Hospital, Piazza Polonia, 94 Torino, Italy (paola.quarello@unito.it).

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