Neonatology and Pediatrics

Newborn Screening: Expanding Genetic Panels

Newborn screening is rapidly advancing through the integration of genomic technologies, next-generation sequencing, bioinformatics, and expanded screening panels. Early detection of metabolic, endocrine, hematologic, immunologic, and genetic disorders enables timely intervention and can significantly improve long-term health outcomes. Emerging screening approaches are facilitating earlier identification of conditions such as spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID), and lysosomal storage disorders, supporting more personalized and proactive neonatal care.

This session will explore the latest developments in expanded newborn screening, genomic medicine, precision pediatrics, and molecular diagnostics, while addressing important considerations such as false-positive results, clinical interpretation, cost-effectiveness, ethical challenges, genetic counseling, and communication with families. Discussions will also focus on integrating advanced screening technologies into public health programs and improving equitable access to newborn screening worldwide. Participants will gain insights into how genomic screening is transforming neonatal care and contributing to earlier diagnosis, targeted treatment, and improved outcomes for newborns.