Rare diseases are a leading cause of infant mortality and lifelong disability in high income countries. Incorporating genomic sequencing into newborn screening programs raises the prospect of being able to detect hundreds of early-onset, severe, but treatable genetic conditions at birth, potentially improving clinical outcomes, with genomic data stored to benefit health over lifetime and support further research. However, the challenges of implementing genomic newborn screening at scale are formidable, spanning technical, clinical and ethical aspects with the need for large, carefully designed studies to inform policy and practice. The BabyScreen+ pilot study provided genomic newborn screening to a cohort of 1,000 Victorian infants for over 600 genetic conditions with the aim of determining the feasibility and acceptability of this approach. Testing was successfully completed for 95% of cases using dried bloodspot cards. The screen-positive rate was 1.6%, including treatable conditions that are not currently included in NBS. 99.5% of enrolled families believed genomic NBS should be universally available.
