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

Amber Salisbury (), Joshua Ciardi, Richard Norman, Amelia K. Smit, Anne E. Cust, Cynthia Low, Michael Caruana, Louisa Gordon, Karen Canfell, Julia Steinberg and Alison Pearce
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Amber Salisbury: The University of Sydney, a joint venture with Cancer Council NSW
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

Applied Health Economics and Health Policy, 2025, vol. 23, issue 3, No 4, 395-408

Abstract: 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.

Date: 2025
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DOI: 10.1007/s40258-024-00893-1

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