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Assessing the unmet needs of genomic testing in Australia: a geospatial exploration

European Journal of Human Genetics volume 33, pages 496–503 (2025) Cite this article

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Abstract

The role of genomic testing in rare disease clinical management is growing. However, geographical and socioeconomic factors contribute to inequitable uptake of testing. Geographical investigations of genomic testing across Australia have not been undertaken. Therefore, we aimed to investigate the geospatial distribution of genomic testing nationally between remoteness areas, and areas of varying socioeconomic advantage and disadvantage. We requested patient postcodes, age, and test type from genomic testing records from seven Australian laboratories for a 6-month period between August 2019 and June 2022. Postcode data were aggregated to Local Government Areas (LGAs) and visualised geospatially. Data were further aggregated to Remoteness Areas and Socio-Economic Index for Areas (SEIFA) quintiles for exploratory analysis. 11,706 records were eligible for analysis. Most tests recorded were paediatric (n = 8358, 71.4%). Microarray was the most common test captured (n = 8186, 69.9%). The median number of tests per LGA was 5.4 (IQR 1.0–21.0). Fifty-seven (10.4%) LGAs had zero tests recorded. Remoteness level was negatively correlated with number of tests across LGAs (rho = −0.781, p < 0.001). However, remote areas recorded the highest rate of testing per 100,000 populations. SEIFA score positively correlated with number of tests across LGAs (rho = 0.386, p < 0.001). The third SEIFA quintile showed the highest rate of testing per 100,000 populations. Our study establishes a foundation for ongoing assessment of genomic testing accessibility and equity and highlights the need to improve access to genomic testing for patients who are disadvantaged geographically or socioeconomically. Future research should include additional laboratories to achieve a larger representation of genomic testing rates nationally.

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Fig. 1: Spatial distribution of the estimated 2021 population by LGA 2021 regions.
The alternative text for this image may have been generated using AI.
Fig. 2: Spatial distribution of Remoteness Categories and SEIFA quintiles nationally.
The alternative text for this image may have been generated using AI.
Fig. 3: Spatial distribution of the number of genomic tests per LGA.
The alternative text for this image may have been generated using AI.
Fig. 4: Number of tests per 100,000 populations across Remoteness Categories and SEIFA quintiles.
The alternative text for this image may have been generated using AI.

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Data availability

The datasets generated during and/or analysed during the current study are not publicly available and will not be shared as we do not have permission from the participating laboratories to do so.

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Acknowledgements

The authors would like to thank the participating laboratories for providing the data for this study.

Funding

Australian Genomics is funded by the National Health and Medical Research Council (Grants GNT1113531 and GNT2000001) and the Australian Government’s Medical Research Future Fund.

Author information

Authors and Affiliations

  1. Australian Genomics, Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    Sarah Casauria, Susan M. White & Stephanie Best

  2. Clinical Genetics Service, Institute of Precision Medicine and Bioinformatics, RPAH, Sydney, NSW, Australia

    Felicity Collins

  3. Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia

    Felicity Collins

  4. Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

    Susan M. White

  5. Victorian Clinical Genetics Services, Melbourne, VIC, Australia

    Susan M. White

  6. National Centre for Geographic Resources & Analysis in Primary Health Care, The National Centre for Epidemiology and Population Health, Australian National University, Canberra, ACT, Australia

    Paul Konings

  7. Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia

    Mathew Wallis

  8. School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia

    Mathew Wallis

  9. Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia

    Nicholas Pachter

  10. Medical School, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia

    Nicholas Pachter

  11. School of Medicine, Curtin University, Perth, WA, Australia

    Nicholas Pachter

  12. Genetic Health Queensland, Royal Brisbane & Women’s Hospital, Brisbane, QLD, Australia

    Julie McGaughran

  13. School of Medicine, The University of Queensland, Brisbane, QLD, Australia

    Julie McGaughran

  14. Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Adelaide, SA, Australia

    Christopher Barnett

  15. School of Health Sciences, University of Melbourne, Melbourne, VIC, Australia

    Stephanie Best

  16. Department of Health Services Research, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia

    Stephanie Best

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Contributions

SC, SB, SW, and FC designed the study. SC completed analyses and wrote the manuscript. PK assisted with statistical and geospatial analyses. JM, CB, MW, and NP assisted with result interpretation and provided feedback on the manuscript.

Corresponding author

Correspondence to Stephanie Best.

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The authors declare no competing interests.

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Ethical approval was granted from the Melbourne Health Human Research Ethics Committee (HREC/16/MH/251).

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Casauria, S., Collins, F., White, S.M. et al. Assessing the unmet needs of genomic testing in Australia: a geospatial exploration. Eur J Hum Genet 33, 496–503 (2025). https://doi.org/10.1038/s41431-024-01746-0

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