International experiences of genomic newborn screening: Lessons from over 10,800 newborns.

Genomic newborn screening studies from the US, Belgium, and Australia involving over 10,800 newborns report a screen-positive rate of 1.6% to 3.7%, with G6PD deficiency as the most common condition.

• Why it matters: Understanding the practical, clinical, psychosocial, ethical, and policy implications of genomic newborn screening is crucial for guiding global healthcare systems considering implementation.
• What they did: Four large-scale genomic NBS studies used dried blood spots for DNA extraction, with variable automation of data analysis and reporting, and compared approaches across diverse healthcare settings.
• The result: Findings highlight the feasibility of integrating genomic screening with existing infrastructure, but also reveal gaps in harmonized study designs, long-term outcome data, and equitable access, which are essential for future policy development.