“陷入困境”：探究结直肠癌患者如何解读和应对疑似林奇综合征诊断
"Left in limbo": Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis.
作者信息
den Elzen Nicole, Joseland Sharelle L, Saya Sibel, Jonnagadla Sowmya, Isbister Joanne, Winship Ingrid, Buchanan Daniel D
机构信息
Colorectal Oncogenomics Group, Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, 305 Grattan Street, Parkville, Victoria, 3010, Australia.
The University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, Australia.
出版信息
Hered Cancer Clin Pract. 2021 Oct 16;19(1):43. doi: 10.1186/s13053-021-00201-1.
BACKGROUND
A diagnosis of suspected Lynch syndrome (SLS) is given when a tumour displays characteristics consistent with Lynch syndrome (LS), but no germline pathogenic variant is identified. This inconclusive diagnosis results in uncertainty around appropriate cancer risk management. This qualitative study explored how patients with CRC interpret and respond to an SLS diagnosis.
METHODS
Semi-structured telephone interviews were conducted with 15 patients with CRC who received an SLS diagnosis, recruited from cancer genetics services across Australia. Interviews were transcribed verbatim and analysed using thematic analysis. Participant responses were compared with appointment summary letters from cancer genetics services.
RESULTS
Participants' interpretations of genetic test results were found to vary widely. While this variation often aligned with variation in interpretations by cancer genetics services, participants also had difficulties with the complexity and recall of genetic test results. Participants had a range of psychological responses to the uncertainty that their results presented, from relief to disappointment and doubt. Cancer risk perceptions also varied widely, with participants' interpretations of their genetic test results just one of several influencing factors. Despite this variability, almost all participants adhered to cancer risk management advice, although different participants received different advice. All participants also communicated any cancer risk management advice to first-degree relatives, motivated by protecting them, but information communicated was not always consistent with advice received.
CONCLUSIONS
Our study findings highlight the variability in patients' interpretations of their diagnosis, cancer risk management and family communication when a diagnosis of SLS is received, and provide novel insights into how healthcare professionals can better support patients with SLS.
背景
当肿瘤表现出与林奇综合征（LS）一致的特征，但未鉴定出胚系致病变异时，会做出疑似林奇综合征（SLS）的诊断。这种不确定的诊断导致在适当的癌症风险管理方面存在不确定性。这项定性研究探讨了结直肠癌患者如何解读和应对SLS诊断。
方法
对15名接受SLS诊断的结直肠癌患者进行了半结构化电话访谈，这些患者是从澳大利亚各地的癌症遗传学服务机构招募的。访谈逐字记录，并采用主题分析进行分析。将参与者的回答与癌症遗传学服务机构提供的预约总结信进行比较。
结果
发现参与者对基因检测结果的解读差异很大。虽然这种差异通常与癌症遗传学服务机构的解读差异一致，但参与者在基因检测结果的复杂性和记忆方面也存在困难。参与者对检测结果带来的不确定性有一系列心理反应，从宽慰到失望和怀疑。癌症风险认知也有很大差异，参与者对基因检测结果的解读只是几个影响因素之一。尽管存在这种变异性，但几乎所有参与者都遵循了癌症风险管理建议，尽管不同的参与者收到了不同的建议。所有参与者也出于保护一级亲属的目的，将任何癌症风险管理建议告知了他们，但传达的信息并不总是与收到的建议一致。
结论
我们的研究结果突出了患者在接受SLS诊断时对诊断、癌症风险管理和家庭沟通的解读存在变异性，并为医疗保健专业人员如何更好地支持SLS患者提供了新的见解。
Zotero 插件