Related Experiment Video
Updated: Apr 16, 2026
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice
Dean A Regier1, Stuart J Peacock2, Reka Pataky2
1Canadian Centre for Applied Research in Cancer Control (Regier, Peacock, Pataky, van der Hoek), Cancer Control Research, BC Cancer Agency, Vancouver, BC; School of Population and Public Health (Regier, Peacock, Pataky), University of British Columbia, Vancouver, BC; Department of Medicine (Medical Genetics) (Jarvik), Department of Genome Sciences (Jarvik) and Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy (Veenstra), University of Washington, Seattle, Wash.; Pharmacoeconomics Research Unit (Hoch), Cancer Care Ontario, Toronto, Ont.; Canadian Centre for Applied Research in Cancer Control (Hoch), Toronto, Ont. dregier@bccrc.ca.
Background:
An 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.
Methods:
We 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.
Results:
In 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%).
Interpretation:
Most 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.
More Related Videos
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
07:59Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Related Concept Videos
03:00Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
01:57Sanger Sequencing
02:02Genomics
01:05Maxam-Gilbert Sequencing
Challenges of the Maxam-Gilbert Method
The...