Was it worth it? Patients' perspectives on the perceived value of genomic-based individualized medicine
Was it worth it? Patients' perspectives on the perceived value of genomic-based individualized medicine
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DOI：
10.1007/s12687-016-0260-x
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发表时间：
2016-04-01
影响因子：
1.9
通讯作者：
McCormick, Jennifer B.
中科院分区：
文献类型：
--
作者：
Halverson, Colin M. E.;Clift, Kristin E.;McCormick, Jennifer B.
基因组测序的价值通常被理解为影响诊断或治疗的能力。在这些方面，成功只发生在少数情况下。本文介绍了临床上进行外显子组测序的患者的观点，以探讨他们如何看待基因组医学的效用。作者使用半结构化的定性访谈来研究患者对肿瘤学和罕见病背景下基因组测序的态度。对37个案例的参与者进行了访谈。就测试的关键价值而言--不管临床医生是否认为结果有意义--参与者表达了四种与传统临床效用观点不同的品质：参与者感到他们对自己的健康有了信心。他们觉得自己为医学基因组技术的进步做出了无私的贡献。他们觉得他们的痛苦是合法的。他们也感到一种结束感，已经做了他们能做的一切。患者对测序表达了压倒性的积极态度。他们的理由不仅仅是基于结果的临床效用。重要的是，临床医生要了解这种非医学推理，因为它涉及到病人的决策和知情同意。
The value of genomic sequencing is often understood in terms of its ability to affect diagnosis or treatment. In these terms, successes occur only in a minority of cases. This paper presents views from patients who had exome sequencing done clinically to explore how they perceive the utility of genomic medicine. The authors used semi-structured, qualitative interviews in order to study patients' attitudes toward genomic sequencing in oncology and rare-disease settings. Participants from 37 cases were interviewed. In terms of the testing's key values-regardless of having received what clinicians described as meaningful results-participants expressed four qualities that are separate from traditional views of clinical utility: Participants felt they had been empowered over their own health. They felt they had contributed altruistically to the progress of genomic technology in medicine. They felt their suffering had been legitimated. They also felt a sense of closure, having done everything they could. Patients expressed overwhelmingly positive attitudes toward sequencing. Their rationale was not solely based on the results' clinical utility. It is important for clinicians to understand this non-medical reasoning as it pertains to patient decision-making and informed consent.