Genomic Screening Consortium for Australian Newborns (GenSCAN)

Natalie Taylor¹, Michelle Pirreca^{2

3}, Bruce Bennetts^{2

4}, Gladys Ho^{2

4}, Kirsten Boggs³, Karin S Kassahn^{5

6}, Lucy Anastasi⁵, David Eugeny Godler^{7

8

9}, Mohammed Alshawsh^{7

9}, Sarah Norris¹⁰, Joanne Scarfe¹⁰, Tiffany Boughtwood^{3

7}, Gareth Baynam^{11

12}, Belinda Burns¹³, Enzo Ranieri^{14

15}, Jade Caruana⁷, Sebastian Lunke^{7

16

17}, Stephanie Best¹⁸, Zornitza Stark^{3

8

16}

Affiliations

¹ School of Population Health, Faculty of Medicine and Health, UNSW, Sydney, New South Wales, Australia.
² Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
³ Australian Genomics, Melbourne, Australia.
⁴ Specialty of Genomic Medicine, the Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Westmead, New South Wales, Australia.
⁵ Department of Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
⁶ Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
⁷ Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁸ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
⁹ Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
¹⁰ The University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, The Leeder Centre for Health Policy, Economics and Data, Sydney, New South Wales, Australia.
¹¹ Rare Care Centre, Perth Children's Hospital, Western Australia, Australia; Undiagnosed Diseases Program-WA, Genetic Health Services WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.
¹² Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia.
¹³ Office of Population Health Genomics, Western Australian Department of Health, Perth, Western Australia, Australia.
¹⁴ NSW Newborn Screening Programme, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
¹⁵ Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
¹⁶ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
¹⁷ Department of Pathology, University of Melbourne, Melbourne, Australia.
¹⁸ Melbourne School of Health Sciences, University of Melbourne, Melbourne, Australia.

PMID: 40616503
PMCID: PMC12455545
DOI: 10.1111/jpc.70131

Review

Genomic Screening Consortium for Australian Newborns (GenSCAN)

Natalie Taylor et al. J Paediatr Child Health. 2025 Sep.

. 2025 Sep;61(9):1438-1443.

doi: 10.1111/jpc.70131. Epub 2025 Jul 5.

Authors

Affiliations

¹ School of Population Health, Faculty of Medicine and Health, UNSW, Sydney, New South Wales, Australia.
² Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, New South Wales, Australia.
³ Australian Genomics, Melbourne, Australia.
⁴ Specialty of Genomic Medicine, the Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Westmead, New South Wales, Australia.
⁵ Department of Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.
⁶ Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
⁷ Murdoch Children's Research Institute, Parkville, Victoria, Australia.
⁸ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
⁹ Department of Paediatrics, Monash University, Clayton, Victoria, Australia.
¹⁰ The University of Sydney, Faculty of Medicine and Health, Sydney School of Public Health, The Leeder Centre for Health Policy, Economics and Data, Sydney, New South Wales, Australia.
¹¹ Rare Care Centre, Perth Children's Hospital, Western Australia, Australia; Undiagnosed Diseases Program-WA, Genetic Health Services WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.
¹² Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia.
¹³ Office of Population Health Genomics, Western Australian Department of Health, Perth, Western Australia, Australia.
¹⁴ NSW Newborn Screening Programme, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.
¹⁵ Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
¹⁶ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
¹⁷ Department of Pathology, University of Melbourne, Melbourne, Australia.
¹⁸ Melbourne School of Health Sciences, University of Melbourne, Melbourne, Australia.

PMID: 40616503
PMCID: PMC12455545
DOI: 10.1111/jpc.70131

Abstract

Background: Using genomic sequencing technology at population scale as a screening test holds the promise of improving outcomes for individuals with rare diseases through early detection and timely access to precision medicine. However, the incorporation of genomics into established newborn screening programmes raises many challenges, ranging from technical feasibility and scalability through to ethical concerns regarding consent and data management. Empirical evidence and implementation experience from large-scale studies are required to guide future policy.

Methods: We provide a narrative summary of genomic newborn screening studies currently underway in Australia.

Findings: We summarise six research studies currently underway in Australia, which explore the application of genomic technologies in the newborn screening context. These studies have taken varying approaches to generating evidence about the implementation of genomic newborn screening and have formed a national consortium, the Genomic Screening Consortium for Australian Newborns (GenSCAN), with the aim of sharing experiences and enabling collective learning.

Conclusions: Over the next decade, we can expect substantial evidence to be generated nationally and internationally to inform future policy decisions on whether to incorporate genomic sequencing into newborn screening programmes.

Keywords: genetics; genomics; neonatology; newborn screening; rare disease.

© 2025 The Author(s). Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

**FIGURE 1**
Overview of the six research projects part of the Genomic Screening Consortium for Australian Newborns (GenSCAN). DMD: Duchenne muscular dystrophy; NGS: next generation sequencing; WGS: whole genome sequencing.

**FIGURE 2**
Structure of the GenSCAN Consortium: Steering Committee, Working Groups and anticipated outputs.

See this image and copyright information in PMC

References

1. Department of Health , “Newborn Bloodspot Screening National Policy Framework,” 2019.
1. Tridello G., Castellani C., Meneghelli I., Tamanini A., and Assael B. M., “Early Diagnosis From Newborn Screening Maximises Survival in Severe Cystic Fibrosis,” ERJ Open Research 4, no. 2 (2018): 109–2017. - PMC - PubMed
1. Department of Health , “Newborn Bloodspot Screening: What Is Screened?” 2025. https://www.health.gov.au/our‐work/newborn‐bloodspot‐screening/what‐is‐s....
1. Bick D., Bick S. L., Dimmock D. P., Fowler T. A., Caulfield M. J., and Scott R. H., “An Online Compendium of Treatable Genetic Disorders,” American Journal of Medical Genetics. Part C, Seminars in Medical Genetics 187, no. 1 (2021): 48–54. - PMC - PubMed
1. Stark Z. and Scott R. H., “Genomic Newborn Screening for Rare Diseases,” Nature Reviews. Genetics 24, no. 11 (2023): 755–766. - PubMed

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Genomic Screening Consortium for Australian Newborns (GenSCAN)

Affiliations

Genomic Screening Consortium for Australian Newborns (GenSCAN)

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Grants and funding