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Public Preferences for Genetic and Genomic Risk-Informed Chronic Disease Screening and Early Detection: A Systematic Review of Discrete Choice Experiments

Author

Listed:
  • Amber Salisbury

    (The University of Sydney, a joint venture with Cancer Council NSW
    The University of Sydney)

  • Joshua Ciardi

    (The University of Sydney)

  • Richard Norman

    (Curtin University)

  • Amelia K. Smit

    (The University of Sydney, a joint venture with Cancer Council NSW)

  • Anne E. Cust

    (The University of Sydney, a joint venture with Cancer Council NSW)

  • Cynthia Low

    (Lived Experience Expert)

  • Michael Caruana

    (The University of Sydney, a joint venture with Cancer Council NSW)

  • Louisa Gordon

    (QIMR Berghofer Medical Research Institute)

  • Karen Canfell

    (The University of Sydney, a joint venture with Cancer Council NSW)

  • Julia Steinberg

    (The University of Sydney, a joint venture with Cancer Council NSW)

  • Alison Pearce

    (The University of Sydney, a joint venture with Cancer Council NSW
    The University of Sydney)

Abstract

Purpose Genetic and genomic testing can provide valuable information on individuals’ risk of chronic diseases, presenting an opportunity for risk-tailored disease screening to improve early detection and health outcomes. The acceptability, uptake and effectiveness of such programmes is dependent on public preferences for the programme features. This study aims to conduct a systematic review of discrete choice experiments assessing preferences for genetic/genomic risk-tailored chronic disease screening. Methods PubMed, Embase, EconLit and Cochrane Library were searched in October 2023 for discrete choice experiment studies assessing preferences for genetic or genomic risk-tailored chronic disease screening. Eligible studies were double screened, extracted and synthesised through descriptive statistics and content analysis of themes. Bias was assessed using an existing quality checklist. Results Twelve studies were included. Most studies focused on cancer screening (n = 10) and explored preferences for testing of rare, high-risk variants (n = 10), largely within a targeted population (e.g. subgroups with family history of disease). Two studies explored preferences for the use of polygenic risk scores (PRS) at a population level. Twenty-six programme attributes were identified, with most significantly impacting preferences. Survival, test accuracy and screening impact were most frequently reported as most important. Depending on the clinical context and programme attributes and levels, estimated uptake of hypothetical programmes varied from no participation to almost full participation (97%). Conclusion The uptake of potential programmes would strongly depend on specific programme features and the disease context. In particular, careful communication of potential survival benefits and likely genetic/genomic test accuracy might encourage uptake of genetic and genomic risk-tailored disease screening programmes. As the majority of the literature focused on high-risk variants and cancer screening, further research is required to understand preferences specific to PRS testing at a population level and targeted genomic testing for different disease contexts.

Suggested Citation

  • Amber Salisbury & Joshua Ciardi & Richard Norman & Amelia K. Smit & Anne E. Cust & Cynthia Low & Michael Caruana & Louisa Gordon & Karen Canfell & Julia Steinberg & Alison Pearce, 2025. "Public Preferences for Genetic and Genomic Risk-Informed Chronic Disease Screening and Early Detection: A Systematic Review of Discrete Choice Experiments," Applied Health Economics and Health Policy, Springer, vol. 23(3), pages 395-408, May.
    • Handle: RePEc:spr:aphecp:v:23:y:2025:i:3:d:10.1007_s40258-024-00893-1
    DOI: 10.1007/s40258-024-00893-1
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    References listed on IDEAS

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    1. McFadden, Daniel, 1980. "Econometric Models for Probabilistic Choice among Products," The Journal of Business, University of Chicago Press, vol. 53(3), pages 13-29, July.
    2. Vikas Soekhai & Esther W. Bekker-Grob & Alan R. Ellis & Caroline M. Vass, 2019. "Discrete Choice Experiments in Health Economics: Past, Present and Future," PharmacoEconomics, Springer, vol. 37(2), pages 201-226, February.
    3. Hall, Jane & Fiebig, Denzil G. & King, Madeleine T. & Hossain, Ishrat & Louviere, Jordan J., 2006. "What influences participation in genetic carrier testing?: Results from a discrete choice experiment," Journal of Health Economics, Elsevier, vol. 25(3), pages 520-537, May.
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