International experiences of genomic newborn screening: Lessons from over 10,800 newborns.
Genomic newborn screening across four countries successfully identified G6PD deficiency in over 10,800 infants, demonstrating feasibility and variability in implementation approaches.
- Why it matters: Understanding how to effectively implement genomic newborn screening globally is crucial to address ethical, clinical, and policy challenges, especially for equitable access and long-term outcomes.
- What they did: Four large-scale studies from the US, Belgium, and Australia used dried blood spots for DNA extraction and analyzed automation and reporting methods across diverse healthcare systems, involving over 10,800 newborns.
- The result: Findings show successful integration with existing infrastructure and highlight the need for harmonized study designs, long-term data, and strategies to ensure equitable access and scalable screening programs.