Newborn screening model using Integrated multi-omics in South Australia

The Newborn screening model using Integrated multi-omics in South Australia (NewbornsInSA) will address the objectives of Stream 2 of the 2021 GHFM Targeted Call for Research to develop novel models of genomic newborn screening (NBS). The project trials a novel NBS model that integrates whole-genome sequencing and untargeted metabolomics profiling into a single NBS test, designed to fast track genetic diagnosis. This integrated approach will be a world-first, seeking to address gaps in identifying newborns at risk, with potential to offer the most comprehensive screening approach attempted to date. Clinical and psychosocial outcomes and the cost of case-finding will be assessed to determine the long-term feasibility and public health benefit of the proposed model. Enduring impact of this research is ensured by the work being performed within the existing NATA-accredited SA Newborn Screening and clinical genomics laboratories of SA Pathology. The research is integrated into national NBS and genomics networks and leverages complementary funding of over >$2.38 million. The design and implementation of this project is actively informed by patient advocacy groups who are partners in this research, ensuring consumer adoption and trust in the proposed NBS model. We hypothesise that our model will result in up to 110 additional genetic diagnoses made over the course of this study, affording these newborns access to lifesaving treatment and interventions earlier in life and the best chance of positive health outcomes. Our team of clinical CIs from all relevant medical sub-specialities will ensure any findings are immediately adopted in clinical management decisions.