Rapid Whole Genome Sequencing in Neonates: Treatable Diagnoses Beyond the New York State Newborn Screening Panel

February 27, 2026

Background

  • Newborn screening (NBS) is a critical public health tool used to identify treatable conditions and improve health outcomes.
  • However, many newborns in the neonatal intensive care unit (NICU) remain critically ill and undiagnosed, with normal NBS results.
  • Rapid whole genome sequencing (rWGS) has emerged as a useful tool to broaden the spectrum of conditions diagnosed in neonates, some of which are treatable.
  • As more treatments become available for genetic conditions diagnosed in the neonatal period, rWGS has an increasingly important role in the NICU.