Regier Dean A, Peacock Stuart J, Pataky Reka, van der Hoek Kimberly, Jarvik Gail P, Hoch Jeffrey, Veenstra David
Canadian 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.
CMAJ. 2015 Apr 7;187(6):E190-E197. doi: 10.1503/cmaj.140697. Epub 2015 Mar 9.
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.
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.
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%).
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.
应用下一代测序技术面临的一项重大挑战是可能会发现偶然的基因组结果。关于偶然发现对个人的实用性证据不足，这阻碍了临床指南的制定。我们的目标是评估从偶然基因组发现中获得的复杂信息对个人的实用性。
我们采用离散选择实验来评估参与者对以下属性的个人实用性：疾病外显率、疾病可治疗性、疾病严重程度、携带者状态和成本。研究参与者来自加拿大公众。我们使用混合逻辑模型分析数据。
共有1200名参与者完成了我们的问卷（问卷提供英文和法文版本）。参与者重视获得关于高外显率疾病的信息，但对获得关于低外显率疾病的信息表示反感。在临床医生反馈高外显率、可医学治疗疾病的偶然发现的情景中，平均支付意愿为445美元（95%置信区间[CI]为322 - 567美元），但只有66%的参与者（95% CI为63% - 71%）表示他们会选择在该情景中接收信息。平均而言，参与者非常重视能够选择接收何种类型的发现，包括接收关于高外显率、可治疗疾病的信息，或接收关于高外显率疾病（无论有无可用治疗方法）的信息。该情景的预测接受率为76%（95% CI为72% - 79%）。
大多数参与者重视获得偶然发现，但个人实用性取决于发现的类型，而且并非所有参与者都希望接收偶然结果，无论其对健康的潜在影响如何。这些结果表明，为了使益处最大化，在决定是否反馈偶然发现时应考虑参与者层面的偏好。
