Journal article

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

S Casauria, F Collins, SM White, P Konings, M Wallis, N Pachter, J McGaughran, C Barnett, S Best

European Journal of Human Genetics | SPRINGERNATURE | Published : 2025

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 geospatial..

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University of Melbourne Researchers

Grants

Awarded by National Health and Medical Research Council


Funding Acknowledgements

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