BACKGROUND
• Traditional newborn screening (NBS) has enabled early detection and management of many rare disorders.
• Early detection and treatment is associated with significantly improved health outcomes and reduced mortality.
• Newborn sequencing can detect a wider range of conditions beyond conventional NBS.
• There is preliminary evidence supporting the clinical utility of newborn sequencing.
• This study examined rapid whole genome sequencing (rWGS) results from neonatal patients tested at a clinical laboratory, exploring the potential benefits of this approach in neonatal care.
