ArticleCMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne2015
Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment.
Article in CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 4 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 4 syntheses or guidelines pooled it, 98 citations in OpenAlex.
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.American journal of human genetics · 2024Pooled it
- Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.Frontiers in public health · 2021Pooled it
- Discrete Choice Experiments in Health Economics: Past, Present and Future.PharmacoEconomics · 2019Pooled it
- Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment.European journal of human genetics : EJHG · 2018Trial
- Impact of precision oncology research in pediatric poor prognosis cancer: patient, parent and healthcare provider perspectives.BMC cancer · 2026Article
- Using a discrete choice experiment to estimate individual preferences to medicate cancer-related symptoms with cannabis.Journal of cannabis research · 2026Article
- The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.Orphanet journal of rare diseases · 2024Article
- Eliciting parental preferences and values for the return of additional findings from genomic sequencing.NPJ genomic medicine · 2024Article
- Blood Donors' Preferences Toward Incentives for Donation in China.JAMA network open · 2023Article
- Great expectations: patients' preferences for clinically significant results from genomic sequencing.Human genetics · 2023Article
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Article
- Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges.Journal of community genetics · 2022Article
- Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.Journal of community genetics · 2022Article
- Stakeholder Perspectives on Navigating Evidentiary and Decision Uncertainty in Precision Oncology.Journal of personalized medicine · 2022Article
- Participants' Preferences and Reasons for Wanting Feedback of Individual Genetic Research Results From an HIV-TB Genomic Study: A Case Study From Botswana.Journal of empirical research on human research ethics : JERHRE · 2021Article
- Patient and public preferences for being recontacted with updated genomic results: a mixed methods study.Human genetics · 2021Article
- Toward the diagnosis of rare childhood genetic diseases: what do parents value most?European journal of human genetics : EJHG · 2021Article
- Enhancing the Impact of Genomics Research in Autism through Integration of Research Results into Routine Care Pathways-A Case Series.Journal of personalized medicine · 2021Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundAn important challenge with the application of next-generation sequencing technology is the possibility of uncovering incidental genomic findings. A paucity of evidence on personal utility for incidental findings has hindered clinical guidelines. Our objective was to estimate personal utility for complex information derived from incidental genomic findings.
methodsWe used a discrete-choice experiment to evaluate participants' personal utility for the following attributes: disease penetrance, disease treatability, disease severity, carrier status and cost. Study participants were drawn from the Canadian public. We analyzed the data with a mixed logit model.
resultsIn total, 1200 participants completed our questionnaire (available in English and French). Participants valued receiving information about high-penetrance disorders but expressed disutility for receiving information on low-penetrance disorders. The average willingness to pay was $445 (95% confidence interval [CI] $322-$567) to receive incidental findings in a scenario where clinicians returned information about high-penetrance, medically treatable disorders, but only 66% of participants (95% CI 63%-71%) indicated that they would choose to receive information in that scenario. On average, participants placed an important value ($725, 95% CI $600-$850) on having a choice about what type of findings they would receive, including receipt of information about high-penetrance, treatable disorders or receipt of information about high-penetrance disorders with or without available treatment. The predicted uptake of that scenario was 76% (95% CI 72%-79%).
interpretationMost participants valued receiving incidental findings, but personal utility depended on the type of finding, and not all participants wanted to receive incidental results, regardless of the potential health implications. These results indicate that to maximize benefit, participant-level preferences should inform the decision about whether to return incidental findings.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.