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Ji et al. Rare Dis Orphan Drugs J 2023;2:26 Rare Disease and
DOI: 10.20517/rdodj.2023.30
Orphan Drugs Journal

Review Open Access

The Australian landscape of newborn screening in
the genomics era

1,2
4,5
1
Charli Ji , Michelle A Farrar , Sarah Norris 3 , Kaustuv Bhattacharya 1,4,5 , Bruce Bennetts , Ainsley J
3
6
6
Newson , Louise Healy , Nicole Millis , Didu S Kariyawasam 1,2
1
Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW Medicine and Health, Sydney 2035, Australia.
2
Department of Neurology, Sydney Children’s Hospital Network, Sydney 2035, Australia.
3
Faculty of Medicine and Health, Sydney School of Public Health, University of Sydney, Sydney 2006, Australia.
4
Western Sydney Genetics Program, Children’s Hospital at Westmead, Sydney 2145, Australia.
5
Faculty of Medicine and Health Science, University of Sydney, Sydney 2006, Australia.
6
Rare Voices Australia, Mentone 3194, Australia.
Correspondence to: Dr. Didu S Kariyawasam, Discipline of Paediatrics and Child Health, School of Clinical Medicine, UNSW
Medicine and Health; Department of Neurology, Sydney Children’s Hospital Network UNSW Sydney, New South Wales,
Australia. E-mail: didu.kariyawasam@health.nsw.gov.au
How to cite this article: Ji C, Farrar MA, Norris S, Bhattacharya K, Bennetts B, Newson AJ, Healy L, Millis N, Kariyawasam DS.
The Australian landscape of newborn screening in the genomics era. Rare Dis Orphan Drugs J 2023;2:26. https://dx.doi.org/10.
20517/rdodj.2023.30
Received: 31 Aug 2023 First Decision: 17 Oct 2023 Revised: 31 Oct 2023 Accepted: 17 Nov 2023 Published: 24 Nov 2023
Academic Editor: Daniel Scherman Copy Editor: Dan Zhang Production Editor: Dan Zhang

Abstract
In Australia, over 300,000 newborns undergo newborn bloodspot screening (NBS) annually, with approximately 1
in 1,000 identified with a rare but actionable condition through this pathway. Prior to 2018, the inclusion criteria for
adding conditions in NBS panels was inconsistent nationally, leading to the development of the Australian National
Newborn Bloodspot Screening Policy Framework. This framework promotes systematic and evidence-based
inclusion of conditions using criteria closely informed by traditional Wilson and Junger screening principles.
Current policy initiatives are focused on achieving national consistency in the conditions screened. NBS programs,
initiated in the 1960s, have used a variety of techniques, including but not limited to tandem mass spectrometry
and immunological assays. The acceleration of genomic technologies has the potential to greatly increase the
number of conditions screened and match affected newborns with innovative treatment options, including
advanced (gene, immune modulation, and RNA) therapies. This review describes the evolution, current status quo,
and outlook for Australian NBS programs with a focus on the implications of wider adoption of genomic newborn
screening (gNBS) in our culturally, geographically, and genetically diverse population. We discuss the potential for
transformative benefits for families with children identified by gNBS and how this must be balanced against the

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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