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调查遗传咨询师与林奇综合征患者就级联检测进行沟通的情况:障碍、促进因素及策略。

Investigating genetic counselors' communication with Lynch syndrome patients about cascade testing: Barriers, facilitators, and strategies.

作者信息

Zhong Lingzi, Rodriguez Yanete, Espinel Whitney, Ozanne Elissa M, Kaphingst Kimberly A

机构信息

Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.

Department of Communication, University of Utah, Salt Lake City, Utah, USA.

出版信息

J Genet Couns. 2025 Apr;34(2):e1937. doi: 10.1002/jgc4.1937. Epub 2024 Jul 4.

DOI:10.1002/jgc4.1937
PMID:38962909
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11698949/
Abstract

Cascade testing is an imperative process to engage Lynch syndrome patients' at-risk relatives in early cancer risk reduction interventions. How genetic counselors communicate about cascade testing is crucial to patients' intentions of and actual involvement in family communication. Based on data from 20 interviews with genetic counselors, this qualitative study examined their perceptions of barriers and facilitators of offering cascade testing to at-risk relatives and the specific communication strategies they use to discuss cascade testing with patients. We identified patient-level, genetic counselor-level, and system-level barriers and facilitators of having discussions with Lynch syndrome patients about cascade testing. The qualitative data also revealed four prominent communication strategies that genetic counselors use for such discussions: build rapport, reframe the benefits of family communication, adapt communication, and provide various resources. These findings highlight genetic counselors' needs of practical and structural support to facilitate their communication about cascade testing, especially when patients are hesitant or lack resources or skills to notify at-risk relatives about cascade testing.

摘要

级联检测是让林奇综合征患者的高危亲属参与早期癌症风险降低干预措施的必要过程。基因咨询师如何就级联检测进行沟通对于患者进行家庭沟通的意愿和实际参与情况至关重要。基于对基因咨询师进行的20次访谈的数据,这项定性研究考察了他们对向高危亲属提供级联检测的障碍和促进因素的看法,以及他们与患者讨论级联检测时所使用的具体沟通策略。我们确定了在与林奇综合征患者讨论级联检测时患者层面、基因咨询师层面和系统层面的障碍和促进因素。定性数据还揭示了基因咨询师用于此类讨论的四种突出沟通策略:建立融洽关系、重新阐述家庭沟通的益处、调整沟通方式以及提供各种资源。这些发现凸显了基因咨询师在促进其关于级联检测的沟通方面对实际支持和结构性支持的需求,尤其是当患者犹豫不决或缺乏资源或技能来告知高危亲属有关级联检测时。

相似文献

1
Investigating genetic counselors' communication with Lynch syndrome patients about cascade testing: Barriers, facilitators, and strategies.调查遗传咨询师与林奇综合征患者就级联检测进行沟通的情况:障碍、促进因素及策略。
J Genet Couns. 2025 Apr;34(2):e1937. doi: 10.1002/jgc4.1937. Epub 2024 Jul 4.
2
Stakeholder Perspectives on Overcoming Barriers to Cascade Testing in Lynch Syndrome: A Qualitative Study.利益相关者对克服林奇综合征级联检测障碍的观点:一项定性研究。
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本文引用的文献

1
Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.遗传性癌症综合征的级联检测:我们是否应该转向直系亲属接触?系统评价和荟萃分析。
J Clin Oncol. 2022 Dec 10;40(35):4129-4143. doi: 10.1200/JCO.22.00303. Epub 2022 Aug 12.
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Motivational interviewing for genetic counseling: A unified framework for persuasive and equipoise conversations.动机性访谈在遗传咨询中的应用:一种用于有说服力和平衡对话的统一框架。
J Genet Couns. 2022 Oct;31(5):1020-1031. doi: 10.1002/jgc4.1609. Epub 2022 Jul 30.
3
What guidance does HIPAA offer to providers considering familial risk notification and cascade genetic testing?对于考虑进行家族风险通知和级联基因检测的医疗服务提供者,《健康保险流通与责任法案》提供了哪些指导?
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Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening.患者及家属对卫生系统主导的级联筛查直接接触的偏好。
J Pers Med. 2021 Jun 10;11(6):538. doi: 10.3390/jpm11060538.
5
Exploring racial and ethnic minority individuals' journey to becoming genetic counselors: Mapping paths to diversifying the genetic counseling profession.探索少数族裔个体成为遗传咨询师的历程:绘制使遗传咨询职业多样化的路径。
J Genet Couns. 2021 Dec;30(6):1522-1534. doi: 10.1002/jgc4.1419. Epub 2021 Mar 22.
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Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis.促进遗传性乳腺癌/卵巢癌或林奇综合征基因检测结果的家庭沟通及级联筛查的干预措施:一项系统评价和荟萃分析
Cancers (Basel). 2021 Feb 23;13(4):925. doi: 10.3390/cancers13040925.
7
Barriers and facilitators for cascade testing in genetic conditions: a systematic review.遗传疾病级联检测的障碍和促进因素:系统评价。
Eur J Hum Genet. 2020 Dec;28(12):1631-1644. doi: 10.1038/s41431-020-00725-5. Epub 2020 Sep 18.
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Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication.遗传性癌症综合征的基因检测:患者对改善风险沟通的建议。
Health Expect. 2020 Aug;23(4):884-892. doi: 10.1111/hex.13062. Epub 2020 Apr 27.
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When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals' views regarding disclosure of BRCA genetic cancer risk.何时告知以及由谁负责告知?一项关于健康专业人员对 BRCA 基因癌症风险披露看法的横断面定性研究。
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Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening.基于诊断后癌症基因检测的级联分析:一种替代基于人群的筛查方法。
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