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癌症的基因组检测:患者的知识、态度和期望。

Genomic testing in cancer: patient knowledge, attitudes, and expectations.

机构信息

Division of Medical Oncology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada.

出版信息

Cancer. 2014 Oct 1;120(19):3066-73. doi: 10.1002/cncr.28807. Epub 2014 Jun 24.

Abstract

BACKGROUND

Genomic testing in cancer (GTC) characterizes genes that play an important role in the development and growth of a patient's cancer. This form of DNA testing is currently being studied for its ability to guide cancer therapy. The objective of the current study was to describe patients' knowledge, attitudes, and expectations toward GTC.

METHODS

A 42-item self-administered GTC questionnaire was developed by a multidisciplinary group and patient pretesting. The questionnaire was distributed to patients with advanced cancer who were referred to the Princess Margaret Cancer Center for a phase 1 clinical trial or GTC testing.

RESULTS

Results were reported from 98 patients with advanced cancer, representing 66% of the patients surveyed. Seventy-six percent of patients were interested in learning more about GTC, and 64% reported that GTC would significantly improve their cancer care. The median score on a 12-item questionnaire to assess knowledge of cancer genomics was 8 of 12 items correct (67%; interquartile range, 7-9 of 12 items correct [58%-75%]). Scores were associated significantly with patients' education level (P < .0001). Sixty-six percent of patients would consent to a needle biopsy, and 39% would consent to an invasive surgical biopsy if required for GTC. Only 48% of patients reported having sufficient knowledge to make an informed decision to pursue GTC whereas 34% of patients indicated a need for formal genetic counseling.

CONCLUSIONS

Patients with advanced cancer are motivated to participate in GTC. Patients require further education to understand the difference between somatic and germline mutations in the context of GTC. Educational programs are needed to support patients interested in pursuing GTC.

摘要

背景

癌症基因组检测(GTC)可鉴定出在患者癌症发展和生长中起重要作用的基因。目前正在研究这种 DNA 检测形式,以评估其对癌症治疗的指导作用。本研究的目的是描述患者对 GTC 的知识、态度和期望。

方法

一个由多学科团队和患者预测试开发了 42 项的 GTC 自我管理问卷。该问卷分发给因癌症处于晚期而被转诊至玛格丽特公主癌症中心参加 1 期临床试验或 GTC 检测的患者。

结果

报道了 98 例晚期癌症患者的结果,占接受调查患者的 66%。76%的患者有兴趣更多地了解 GTC,64%的患者报告 GTC 将显著改善他们的癌症治疗。12 项评估癌症基因组学知识的问卷的中位数得分为 8 分(答对 12 项中的 8 项;75%~67%)。得分与患者的教育水平显著相关(P<0.0001)。如果需要进行 GTC,则 66%的患者愿意接受针吸活检,39%的患者愿意接受侵入性手术活检。只有 48%的患者表示有足够的知识做出知情决定是否进行 GTC,而 34%的患者表示需要进行正式的遗传咨询。

结论

晚期癌症患者有动力参与 GTC。患者需要进一步教育以了解 GTC 背景下体细胞和种系突变之间的区别。需要教育计划来支持对进行 GTC 感兴趣的患者。

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