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癌症患者接受不确定意义变异结果的体验:亚洲视角。

Cancer patients' experience of receiving variant of uncertain significance results: An Asian perspective.

机构信息

Division of Medical Oncology, Cancer Genetics Service, National Cancer Centre Singapore, Singapore, Singapore.

Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.

出版信息

J Genet Couns. 2024 Oct;33(5):985-994. doi: 10.1002/jgc4.1813. Epub 2023 Oct 21.

DOI:10.1002/jgc4.1813
PMID:37864575
Abstract

Due to a lack of ancestry-matched, functional, and segregation data, Asians have a higher rate of receiving a variant of uncertain significance (VUS) result following panel testing. Managing VUS results presents challenges, as it often leads to increased anxiety and distress among cancer patients undergoing genetic testing. This exploratory study aims to investigate the experience of Asian cancer patients upon receiving a VUS result. A qualitative, semi-structured interview study was conducted, involving cancer patients who had received a VUS result through the Cancer Genetics Service of the National Cancer Centre Singapore. Twenty participants were interviewed, and their responses were transcribed and analyzed using thematic analysis to identify key themes. Thematic analysis revealed five major themes: (1) VUS results are interpreted as uncertain outcomes; (2) a VUS result provides relief and prompts positive behavioral adjustments; (3) patients employ fatalism and religion as coping mechanisms to navigate uncertainty; (4) genetic counselors, family, and the community offer reassurance and support; (5) patients value updates on variant classifications for future management. While this novel study provides unique insights into the perspectives of Asian patients who receive VUS results, it also highlights patients' effective management of VUS results and uncertainty, which has implications for improving counseling practices in Asia. Emphasis must be placed on accurate interpretation and clear communication of VUS results to dispel the possibility of misconceptions, misdiagnosis, and mismanagement in cancer care.

摘要

由于缺乏与亚洲人匹配的、功能性的和可分离的数据,亚洲人在接受面板检测后,其不确定意义变异(VUS)结果的比例更高。管理 VUS 结果带来了挑战,因为它通常会导致接受基因检测的癌症患者增加焦虑和痛苦。本探索性研究旨在调查亚洲癌症患者在收到 VUS 结果时的体验。采用定性、半结构式访谈研究,涉及在新加坡国家癌症中心癌症遗传学服务部接受 VUS 结果的癌症患者。对 20 名参与者进行了访谈,他们的回答被转录并进行主题分析,以确定关键主题。主题分析揭示了五个主要主题:(1)VUS 结果被解释为不确定的结果;(2)VUS 结果提供了缓解,并促使积极的行为调整;(3)患者采用宿命论和宗教作为应对不确定性的机制;(4)遗传咨询师、家庭和社区提供安慰和支持;(5)患者重视变体分类的更新,以进行未来的管理。虽然这项新的研究为接受 VUS 结果的亚洲患者的观点提供了独特的见解,但它也强调了患者对 VUS 结果和不确定性的有效管理,这对改善亚洲的咨询实践具有意义。必须强调对 VUS 结果进行准确的解释和清晰的沟通,以消除癌症治疗中误解、误诊和管理不当的可能性。

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