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.

译文

目的:肿瘤基因组图谱(TGP)可以揭示有关癌症患者遗传疾病风险的次要发现。目前尚不了解晚期癌症患者(目前是TGP的主要使用者)如何感知次级种系发现的利弊。
方法:我们对40名患有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。使用主题内容分析方法对定性访谈数据进行了评估。
结果:大多数参与者对学习其次生种系发现的前景表示兴趣(57%),尽管少数人模棱两可(29%)或不感兴趣(14%)。这些偏好的原因各不相同,但受到参与者对这些信息的各种利弊的看法的影响,他们认为这与自己有关。他们的家人;以及其他患有癌症,医学和社会的患者。这些态度是由参与者的个人疾病经历和健康状况独特地塑造的。
结论:许多晚期癌症患者对学习继发生殖系发现感兴趣,并对潜在的健康益处抱有乐观甚至不切实际的信念。患者还对该信息的临床和情感含义有重要的担忧。这些认识是解决以确保患者就学习次生种系发现做出知情决定所必需的。

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