Transforming the newborn screening program

hands holding newborn feet

The highly competitive Medical Research Future Fund Clinical Trials scheme is awarded to meritorious projects that have the potential to improve health outcomes, translate research into practice, and generate new evidence for the effectiveness of new treatments, interventions or approaches. Implementation to Impact researcher A/Professor Natalie Taylor, was awarded a grant in this scheme, and will lead this grant with Dr Carolyn Mazariego over the next 3 years. Dr Mazariego discusses the clinical trial below.

What is the key focus of this research?

The key focus of this research project is to introduce and implement a targeted, adaptive genomic sequencing test called TAG-NBS (Targeted Adaptive Genomic Newborn Bloodspot Screening) for the early diagnosis of treatable genetic diseases in Australian newborn screening (NBS) programs. The research aims to address the current limitations and barriers to expanding NBS by developing and validating a more focused and efficient testing approach.

What motivated you to take up this topic?

Thousands of Australians suffer unnecessary death or disability from treatable genetic conditions due to the unavailability of effective screening methods. Newborn Bloodspot Screening has been recognized as a highly effective public health innovation of the 21st century, but there are challenges in implementing advanced genomic sequencing techniques for NBS. Therefore, the research team aims to overcome these challenges and improve health outcomes by introducing TAG-NBS.

What do you hope to achieve with this research?

With this research, the team hopes to achieve several objectives. Firstly, we aim to co-refine the preliminary implementation framework of TAG-NBS, ensuring that the technology can be effectively integrated into the clinical setting. Secondly, we plan to conduct a Type II effectiveness-implementation trial to test the efficacy and feasibility of TAG-NBS. Finally, this trial will provide valuable insights into the clinical utility and implementation process of the technology which will ultimately transform the NBS program in Australia. 

Who are you collaborating with to achieve these outcomes?

Our research team is collaborating with internationally recognized specialists in translational genomics, newborn screening, clinical genetics, data science, health economics, health policy, clinical psychology, and implementation science. One of our major study partners is Genepath, the developers of the TAG-NBS study assay and world leaders in validated, high throughput genomic newborn screening.  We also hold a strong consumer representation by collaborating with Rare Voices Australia. This is to ensure the project considers the perspectives and needs of those affected. By bringing together this multidisciplinary team, we will leverage expertise from various fields to successfully introduce TAG-NBS into Australian NBS programs.

July 2023

Senior Research Fellow Carolyn Mazariego
Senior Research Fellow
opens in a new window
Scientia Associate Professor of Implementation Science and Health Systems; Director of Research, School of Population Health Natalie Taylor
Scientia Associate Professor of Implementation Science and Health Systems; Director of Research, School of Population Health
opens in a new window