Skip to main content

Assessing benefits of extended genomic newborn screening trialled on 100,000 infants from Generation Victoria

Project Member(s): Arora, S.

Funding or Partner Organisation: Medical Research Future Fund (MRFF Genomics Health Futures Mission Project Grant)
Medical Research Future Fund (MRFF Genomics Health Futures Mission Project Grant)

Start year: 2022

Summary: There are over 7,000 rare diseases with the average child waiting 4 years for diagnosis. During this time, families consult on average 5 doctors and receive 3 misdiagnoses with huge implications for health and economic outcomes for the children, their families and the health system. Newborn screening using genomic testing offers the chance for these children to receive new therapies when they can benefit from them the most. One limitation, however, is availability of genomic workflows in line with requirements for current newborn screening programs. Our project uses a novel workflow called ‘EpiGNs’ that meets the above requirements. It uses an automated low-cost 1st-tier test on newborn blood spots (NBS) to analyze patterns of DNA methylation to screen for treatable conditions associated with intellectual disability, autism, life threatening obesity and seizures including: fragile X, Prader Willi, Angelman, Dup15q, Turner, XXY, XXXY and XXYY syndromes. Shortlisted NBS are then referred for 2nd-tier genomic / epigenetic testing to confirm aetiology. In this project, 100,000 infants will be recruited as part of the $55 million funded whole-of-state birth cohort (GenV), with samples collected and stored over 3 years. Trajectories of infants’ physical and developmental milestones, healthcare use and resource utilization will then be defined in this period for the whole cohort. In its 4th year, EpiGNs will identify ~200 children with rare diseases whose outcome measures will be compared with the whole population to: (i) define clinically meaningful screening thresholds; (ii) provide accurate prevalence estimates; (ii) give comparisons of cost-effectiveness of universal newborn screening vs standard of care diagnostic testing. NATA accredited screening program will also be established to mirror standard of care newborn screening at the Victorian Clinical Genetics Services, to have a program ready for implementation within 12 months of the completion of this project.

FOR Codes: Genomics, Diagnosis of human diseases and conditions