Targeted, Adaptive Genomics for Ethical, Evidence-based Expansion of Newborn Screening: a type II hybrid effectiveness-implementation trial

  • Taylor, Natalie (Chief Investigator)
  • Ungerer, Jacobus (Chief Investigator)
  • Wakefield, Claire (Chief Investigator)
  • Bauer, Denis C. (Chief Investigator)
  • Shum, Bennett (Chief Investigator)
  • Parkinson, Bonny (Primary Chief Investigator)
  • Mazariego, Carolyn (Chief Investigator)
  • Watts, Gerald F. (Chief Investigator)
  • Peterson, Amy (Chief Investigator)
  • McGill, Brittany C. (Chief Investigator)
  • Jeet, Varinder (Chief Investigator)
  • Dobbins, Timothy (Chief Investigator)
  • Pang, Jing (Chief Investigator)
  • Downie, Lilian (Chief Investigator)
  • Bennett, Glenn (Associate Investigator)
  • Della-Vedova, Jennifer (Associate Investigator)
  • Wilgen, Urs (Associate Investigator)
  • Martin, Andrew C. (Associate Investigator)
  • Srinivasan, Shubha (Associate Investigator)
  • Lynch, Matthew (Associate Investigator)
  • Mcgill, James (Associate Investigator)
  • Nowak, Kristen J. (Associate Investigator)
  • Kostner, Karam M. (Associate Investigator)
  • Wainwright, Claire E. (Associate Investigator)

Project: Research

Project Details


Every year thousands of Australians suffer unnecessary death or disability from treatable genetic conditions because effective screening is unavailable. Newborn Bloodspot Screening (NBS) of pre-symptomatic infants for treatable genetic conditions is highly effective in reducing death and disability, and is one of the top ten public health innovations of the 21st century. Despite recent advances in whole genome and whole exome sequencing, research on these methods suggest clinical, technical, cost, and ethical barriers to their use in expanding NBS. To address these challenges, our team developed, and validated a targeted, adaptive genomic sequencing test for
NBS expansion (TAG-NBS), which has been accredited by the National Association of Testing Authorities, Australia for newborn screening. The test sequences a selection of genes, currently 53, for genetic variations that cause treatable genetic conditions. The number of genes in the test can be can be increased over time, providing a platform for ongoing NBS expansion.

We bring together an internationally recognised, multi-state, multidisciplinary team of experts in translational genomics, newborn screening, clinical genetics, data science, health economics, health policy, clinical psychology, and implementation science, alongside consumer representatives (e.g., Rare Voices Australia), to introduce TAGNBS
to the clinical setting. Through a world first clinical effectiveness-implementation trial, our goal is to embed this technology for the early diagnosis of treatable genetic diseases in Australian NBS programs to improve health outcomes, through four aims:
1: Co-refine the preliminary TAG-NBS implementation framework
2: Test TAG-NBS in a Type II effectiveness-implementation trial
3: Estimate the cost-effectiveness of TAG-NBS compared to the current NBS program from the Australian healthcare system perspective
4: Design state-based adaptations to the TAG-NBS protocol and implementation framework
AcronymMRFF UNSW-led
Effective start/end date14/02/2413/02/27