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Updated: Sep 4, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Newborn Screening: Equity for Aboriginal and Torres Strait Islander Families in the Context of Emerging Genomics
Gail Garvey1, Sarah Norris2, Joanne Scarfe2
1First Nation Cancer and Wellbeing Program, School of Public Health, The University of Queensland, Herston, Queensland, Australia.
Abstract:
Australia's newborn bloodspot screening (NBS) program is offered to every newborn. It screens for 34 rare conditions with the potential for hundreds more to be added using genomics. Despite NBS being available in Australia since the 1960s, there is a lack of evidence regarding the participation and experiences of Aboriginal and Torres Strait Islander peoples in NBS. As Australia considers a future where genomics might be used in NBS, there is a critical window of opportunity to understand and prioritise the perspectives, hopes and fears of Aboriginal and Torres Strait Islander peoples regarding the utility of genomics in NBS.
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