DNA Sequencing in Newborn Screening: Opportunities, Challenges, and Future Directions.

This article focuses on the integration of DNA sequencing into newborn screening (NBS), a public health system aimed at early identification of infants at risk for treatable congenital conditions. It reviews the potential benefits of genetic NBS, including expanded screening for conditions lacking biochemical markers, improved specificity and sensitivity of current tests, and the flexibility to update gene panels as new treatments emerge. The article also addresses significant challenges such as ethical considerations, parental consent, psychosocial impacts, equity in access, variant interpretation, data privacy, and infrastructure needs for large-scale implementation. While pilot studies indicate broad parental support and feasibility, the article emphasizes the necessity of ongoing evaluation, consensus on gene selection, and careful management of risks to ensure equitable and effective integration of genomic sequencing into NBS programs.