Assessing the unmet needs of genomic testing in Australia: a geospatial exploration
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 ge...
Gespeichert in:
Veröffentlicht in: | European journal of human genetics : EJHG 2024-11 |
---|---|
Hauptverfasser: | , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
Online-Zugang: | Volltext |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Zusammenfassung: | 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 |
---|---|
ISSN: | 1018-4813 1476-5438 1476-5438 |
DOI: | 10.1038/s41431-024-01746-0 |