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A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease

European Journal of Human Genetics volume 30, pages 645–652 (2022)Cite this article

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Abstract

Place plays a significant role in our health. As genetic/genomic services evolve and are increasingly seen as mainstream, especially within the field of rare disease, it is important to ensure that where one lives does not impede access to genetic/genomic services. Our aim was to identify barriers and enablers of geographical equity in accessing clinical genomic or genetic services. We undertook a systematic review searching for articles relating to geographical access to genetic/genomic services for rare disease. Searching the databases Medline, EMBASE and PubMed returned 1803 papers. Screening led to the inclusion of 20 articles for data extraction. Using inductive thematic analysis, we identified four themes (i) Current service model design, (ii) Logistical issues facing clinicians and communities, (iii) Workforce capacity and capability and iv) Rural culture and consumer beliefs. Several themes were common to both rural and urban communities. However, many themes were exacerbated for rural populations due to a lack of clinician access to/relationships with genetic specialist staff, the need to provide more generalist services and a lack of genetic/genomic knowledge and skill. Additional barriers included long standing systemic service designs that are not fit for purpose due to historically ad hoc approaches to delivery of care. There were calls for needs assessments to clarify community needs. Enablers of geographically equitable care included the uptake of new innovative models of care and a call to raise both community and clinician knowledge and awareness to demystify the clinical offer from genetics/genomics services.

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All data generated or analysed during this study are included in this published article [and its supplementary information files].

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Acknowledgements

The authors declare no competing financial interests in relation to the study described in the manuscript. Our study was funded through Australian Genomics, via an NHMRC Targeted Call for Research grant (GNT1113531): ‘Preparing Australia for Genomic Medicine’. The funders played no part in the study design; data collection, analysis, and interpretation; in the writing of the manuscript or in the decision to submit this manuscript for publication.

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Authors and Affiliations

  1. Australian Institute of Health Innovation, Macquarie University, Sydney, NSW, Australia

    Stephanie Best

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

    Stephanie Best, Nada Vidic & Susan M. White

  3. School of Women’s and Children’s Health, University of New South Wales, Sydney, NSW, Australia

    Nada Vidic

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

    Kim An & Susan M. White

  5. Clinical Genetics Service, Institute of Precision Medicine and Bioinformatics, Royal Prince Alfred Hospital, Sydney, NSW, Australia

    Felicity Collins

  6. Divisions of Genomic Medicine, Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia

    Felicity Collins

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

    Susan M. White

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  4. Felicity Collins
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  5. Susan M. White
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Contributions

SB was responsible for designing the review protocol, writing the protocol and report, screening eligible studies, extracting and analysing data, interpreting results, and lead the writing. NV supported designing the review protocol, screening eligible studies, extracting and analysing data, interpreting results and supported writing up the findings. KA liaised with the librarian, ran the searches, screening eligible studies, extracting and analysing data, interpreting results and supported writing up the findings. FC supported designing the protocol, provided expert opinion and criticism and writing up the findings. SMW supported designing the protocol, provided expert opinion and criticism and writing up the findings

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Correspondence to Stephanie Best.

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Best, S., Vidic, N., An, K. et al. A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease. Eur J Hum Genet 30, 645–652 (2022). https://doi.org/10.1038/s41431-021-01022-5

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