Genomic Newborn Screening

Whole-genome sequencing can potentially identify hundreds of conditions from a single dried bloodspot sample. The genomic assay will be validated to ISO 15189 standards and provided as a clinically accredited test. Gene selection is guided by disease severity, childhood onset, treatment availability, sequencing detectability, and strong gene-disease association. Genomic screening uses whole-genome sequencing to identify pathogenic or likely pathogenic variants in a curated virtual gene panel. The study uses a virtual gene panel so target genes can be refined without changing the sequencing platform. The planned genomic gene list includes 605 genes from the BabyScreen+ study and PanelApp Australia, with additional local genes proposed by clinical teams and stakeholders. Genomic newborn screening raises challenges including variant interpretation, consent, acceptability, system readiness, privacy, insurance, false positives, cost-effectiveness, and reportability criteria.