About us
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 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.
Funding
Medical Research Future Fund (MRFF) Clinical Trials Activity Initiative MRF2022871 2023-2026
Investigators
Chief Investigators
| A/Prof Natalie Taylor | University of New South Wales |
| Dr Jacobus Ungerer | Pathology Queensland |
| Prof Claire Wakefield |
University of New South Wales |
Dr Denis Bauer |
CSIRO Australian e-Health Research Centre |
Dr Bennett Shum |
Genepath |
Dr Bonny Parkinson |
Macquarie University |
Dr Carolyn Mazariego |
University of New South Wales |
| Prof Gerald Watts |
University of Western Australia |
Amy Peterson |
University of Wisconsin-Madison |
Ms Brittany McGill |
University of New South Wales |
| Dr Varinder Jeet |
Macquarie University |
| Assoc Prof Timothy Dobbins |
University of New South Wales |
| Dr Jing Pang |
University of Western Australia |
Associate Investigators
| Glenn Bennett |
Genepath |
| Jennifer Della-Vedova |
FH Family Support Group |
| Dr Urs Wilgen |
Pathology Queensland |
| Dr Andrew Martin | Perth Children's Hospital |
| Shubha Srinivasan |
Children's Hospital at Westmead |
Matthew Lynch |
Queensland Children’s Hospital |
James McGill |
Pathology Queensland |
Dr Kristen Nowak |
Department of Health WA |
Assoc Prof Karam Kostner |
The University of Queensland |
| Prof Claire Wainwright |
The University of Queensland |
