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NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort study
Lucy Anastasi1, Ayesha Chowdhury1, Alex Ashenden1,2
1Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
BMJ Open
|March 11, 2026
Summary
This study introduces a new multi-omic newborn screening model integrating metabolomics and genomics. This approach aims to identify more treatable childhood conditions earlier, improving infant health outcomes.
Area of Science:
- Genetics
- Metabolomics
- Public Health
Background:
- Current newborn bloodspot screening (NBS) in Australia screens ~300,000 infants annually for ~30 conditions.
- Existing NBS relies on mass spectrometry, limiting detection to specific biomarkers.
- Advancements in metabolomics and genomics offer potential to screen for hundreds more treatable conditions.
Purpose of the Study:
- To develop, validate, and evaluate a novel multi-omic newborn screening model.
- To integrate metabolomic and genomic screening methodologies for expanded condition detection.
- To assess the acceptability, feasibility, and cost-effectiveness of this integrated approach.
Main Methods:
- Recruiting 1000 families for genomic NBS (whole-genome sequencing, 600+ gene panel) and metabolomic screening.
- Reporting clinically actionable genetic variants to parents.
- Evaluating program acceptability via stakeholder engagement and family surveys.
- Assessing diagnostic yield, accuracy, costs, and consequences against standard NBS.
Main Results:
- Hypothesizes increased condition identification and reduced time to diagnosis.
- Anticipates earlier care and improved outcomes for newborns with genetic conditions.
- Aims to demonstrate the feasibility and cost-effectiveness of multi-omic NBS.
Conclusions:
- The multi-omic newborn screening model holds promise for earlier and broader detection of childhood conditions.
- This integrated approach could significantly improve diagnostic timelines and patient outcomes.
- Further research and validation are essential for clinical implementation.
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