About the Study
Each year in Australia, about 99% of newborn babies receive a simple test just after birth. This is called newborn screening. A small drop of blood is drawn via a heel prick. This blood is tested to identify their risk of becoming sick from rare conditions. The baby can be diagnosed quickly and access immediate treatment and care. Approximately one in every 1,000 babies has a condition detected through the newborn screening program.
Currently, Australia’s newborn screening program uses tests that measure the levels of specific natural chemicals in blood. This program is investigating the use of genomics, a way of looking at a baby’s DNA.
Genetic testing is looking at changes or variations in single genes, or genomic testing, the screening of multiple genes through whole exome sequencing, or whole genome sequencing. Adding this type of testing could detect more conditions earlier, and has the potential to help babies and their families get diagnosis and treatment earliler. There are also risks in using genomics on a large scale.
Like other countries, Australia has not made any decisions on using genomics or how to use genomics in its Newborn Bloodspot Screening program.
What we want to hear:
Your Perspectives – Concerns – Questions – Views - about the use of genomics in newborn screening.
This project aims to capture and share Aboriginal and Torres Strait Islander peoples’ perspectives, concerns, questions and beliefs about the use of genomics in newborn screening.
You’re being invited to take part in a Yarning Circle to share your perspectives. This work will contribute to ensuring that future decisions in this area are respectful, inclusive, and culturally appropriate.
Funding and Collaborators
This study is conducted by researchers from The University of Queensland First Nations Cancer and Wellbeing Research program and funded by the University of Queensland.
This research is one activity from within a larger study called gEnomics4newborns: Integrating Ethics and Equity with Effectiveness and Economics for genomic newborn screening, funded by the Medical Research Future Fund (MRF2015965).
Ethics Committee Clearance
The ethical aspects of this research project have been approved by the Australian Institute of Aboriginal and Torres Strait Islander Studies (AIATSIS) Research Ethics Committee – ETHICS ID: 2025/REC-0553