Newborn Screening: Expanding Genetic Panels

Newborn screening has evolved significantly in recent years, particularly with the integration of expanded genetic panels. The early identification of metabolic, endocrine, hematologic, and genetic disorders is critical to initiating timely interventions that can prevent long-term disabilities or death. This session explores the future of newborn screening programs as they adopt next-generation sequencing, bioinformatics tools, and more inclusive screening panels. By detecting conditions such as spinal muscular atrophy (SMA), severe combined immunodeficiency (SCID), and various lysosomal storage diseases earlier, healthcare providers can offer more personalized and proactive treatment plans. Ethical implications, false positives, and cost-effectiveness are also addressed, ensuring a balanced view of this transformative practice. Participants will learn how expanded genetic screening is reshaping neonatal care standards and how to interpret and communicate results to families effectively. Discussion will include strategies for integrating expanded screening into public health frameworks and ensuring equitable access for all newborns regardless of geographic or economic background.

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