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晚期癌症患者对肿瘤基因组分析中二级胚系发现的兴趣和态度

Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling.

作者信息

Hamilton Jada G, Shuk Elyse, Genoff Margaux C, Rodríguez Vivian M, Hay Jennifer L, Offit Kenneth, Robson Mark E

机构信息

Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, Cornell University, New York, NY.

出版信息

J Oncol Pract. 2017 Jul;13(7):e590-e601. doi: 10.1200/JOP.2016.020057. Epub 2017 Jun 19.

Abstract

PURPOSE

Tumor genomic profiling (TGP) can reveal secondary findings about inherited disease risks in a patient with cancer. Little is known about how patients with advanced cancer, currently the primary users of TGP, perceive the benefits and harms of secondary germline findings.

METHODS

We conducted semistructured interviews with 40 patients with advanced breast, bladder, colorectal, or lung cancer who had TGP. Qualitative interview data were evaluated by using a thematic content analysis approach.

RESULTS

Most participants expressed interest in the prospect of learning their secondary germline findings (57%), although a minority was equivocal (29%) or disinterested (14%). Reasons for these preferences varied but were influenced by participants' perceptions of diverse benefits and harms of this information, which they regarded as relevant to themselves; their families; and other patients with cancer, medical science, and society. These attitudes were uniquely shaped by participants' personal disease experiences and health status.

CONCLUSION

Many patients with advanced cancer are interested in learning secondary germline findings and hold optimistic and perhaps unrealistic beliefs about the potential health benefits. Patients also have important concerns about clinical and emotional implications of this information. These perceptions are necessary to address to ensure that patients make informed decisions about learning secondary germline findings.

摘要

目的

肿瘤基因组分析(TGP)能够揭示癌症患者遗传性疾病风险的次要发现。对于晚期癌症患者(目前TGP的主要使用者)如何看待次要种系发现的益处和危害,我们知之甚少。

方法

我们对40例接受了TGP的晚期乳腺癌、膀胱癌、结直肠癌或肺癌患者进行了半结构化访谈。采用主题内容分析方法对定性访谈数据进行评估。

结果

大多数参与者对了解其次要种系发现的前景表示感兴趣(57%),尽管少数人态度模糊(29%)或不感兴趣(14%)。这些偏好的原因各不相同,但受到参与者对该信息各种益处和危害的认知影响,他们认为这些信息与自己、家人以及其他癌症患者、医学和社会相关。这些态度受到参与者个人疾病经历和健康状况的独特影响。

结论

许多晚期癌症患者对了解次要种系发现感兴趣,并对潜在的健康益处持有乐观甚至可能不切实际的信念。患者也对该信息的临床和情感影响深感担忧。为确保患者在了解次要种系发现方面做出明智决策,有必要解决这些认知问题。

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