Cancer Patients' Preferences For Return Of Somatic And Germline Whole-Exome Sequencing Results: Data From The Canseq Study.

JOURNAL OF CLINICAL ONCOLOGY(2014)

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摘要
1535 Background: The introduction of whole-exome sequencing (WES) into routine cancer care presents novel challenges for patient education and informed consent. In light of the recent American College of Medical Genetics and Genomics recommendations for the return of actionable germline incidental findings, it is imperative to understand patients’ preferences for the return of WES findings. Methods: Advanced lung and colorectal cancer patients were offered WES. Preferences for the return of somatic and germline findings were obtained at consent. Attitudes about genetic testing and genetic knowledge were elicited through a baseline survey. Results: We approached 97 patients for participation, of whom 92 (95%) enrolled. Eighty-six patients completed the survey (completion rate 93%); 49% lung, 58% female, mean age 65 (standard deviation (sd) 11.4), 79% white, 21% ≤ high school education, 22% ≥ advanced degree. The vast majority of patients wanted to learn about somatic and germline WES findings. Preferences for return of results were highest for somatic findings that can be used to select a clinical trial (97%) and for positive prognostic findings (99%). Most patients also wanted return of germline pharmacogenetic (cancer-related 99%; non-cancer related 94%), cancer risk (96%), and treatable non-cancer risk (96%) results. Preferences for the return of somatic results with negative prognostic implications (86%), results indicating germline risk for non-treatable, non-cancer conditions (85%), and carrier status (88%) were slightly lower. Patients had highly positive attitudes about genetic testing but relatively low genetic knowledge, answering a mean of 54% of items correctly on a 7-item scale (sd 24.7). Conclusions: Patients with advanced lung and colorectal cancer express strong preferences for the return of somatic and germline WES findings. Despite patients’ positive attitudes about genetic testing, relatively low levels of genetic knowledge may present challenges to adequate informed consent and highlight the need for high-quality sequencing-related patient education.
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cancer patients,germline,whole-exome
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