Genomic Newborn Screening

How it works

Benefits

Preparation

Risks & contraindications

Evidence quality

Highlighted claims

• Genomic screening uses whole-genome sequencing to identify pathogenic or likely pathogenic variants in a curated virtual gene panel. — NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
• Gene selection is guided by disease severity, childhood onset, treatment availability, sequencing detectability, and strong gene-disease association. — NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
• The genomic assay will be validated to ISO 15189 standards and provided as a clinically accredited test. — NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
• Genomic newborn screening raises challenges including variant interpretation, consent, acceptability, system readiness, privacy, insurance, false positives, cost-effectiveness, and reportability criteria. — NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
• The study uses a virtual gene panel so target genes can be refined without changing the sequencing platform. — NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
• 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. — NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
• Whole-genome sequencing can potentially identify hundreds of conditions from a single dried bloodspot sample. — NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study