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家庭对肿瘤基因咨询的体验:来自异质性遗传性癌症风险人群的报告。

Families' experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population.

机构信息

Health, Family and Community Research Group, Department of Health Sciences, University of Aveiro, University Campus of Santiago, 3810-093, Aveiro, Portugal.

出版信息

Fam Cancer. 2012 Jun;11(2):291-306. doi: 10.1007/s10689-012-9514-x.

DOI:10.1007/s10689-012-9514-x
PMID:22367452
Abstract

This paper reports the results of semi-structured family interviews conducted with a purposive sample of nine families (comprising 50 individuals) involved in cancer genetic counselling at a Portuguese public hospital. Qualitative analysis resulted in thematic categories illustrating: (1) how families go through cancer genetic counselling (eliciting risk awareness, the motivators, risk management, the psychosocial context of familial engagement in genetic counselling, and the familial pathways of cancer risk tracking); and (2) how families incorporate genetic risk into family life (strategies for family resilience, and the meanings and values that permeate the experience). Families have recognised the value of genetic counselling in enabling participants to take measures to confront disease risk; however, the experience was dominated by distressing feelings. A set of ethical-relational principles guided the experience. Familial experiences on genetic counselling and tracking of cancer susceptibility encompass a sense of trajectory that takes the form of an historical and intergenerational narrative process, linking past, present and possible futures. Such process implies an ongoing set of individual and interactional experiences taking place over time. Specific changes associated with the illness timeline and with individual and family developmental lifespan transitions are thus acknowledged. These results may help genetics healthcare practitioners understand how families perceive, respond to and accommodate cancer risk counselling, and thus illuminate family-oriented tenets for planning and practice.

摘要

本文报告了对葡萄牙一家公立医院参与癌症遗传咨询的 9 个家庭(共 50 人)进行的半结构化家庭访谈的结果。定性分析产生了主题类别,说明了:(1)家庭如何经历癌症遗传咨询(引起风险意识、动机、风险管理、家庭参与遗传咨询的心理社会背景以及癌症风险跟踪的家族途径);以及(2)家庭如何将遗传风险融入家庭生活(家庭弹性的策略以及渗透体验的意义和价值观)。家庭已经认识到遗传咨询的价值,使参与者能够采取措施应对疾病风险;然而,这种体验主要是痛苦的感觉。一组伦理关系原则指导了这一体验。关于癌症易感性的遗传咨询和跟踪的家庭体验包含了一种轨迹感,它采取了历史和代际叙述过程的形式,将过去、现在和可能的未来联系起来。这种过程意味着随着时间的推移,会有一系列持续的个体和相互作用的体验。因此,人们认识到与疾病时间线以及个体和家庭发展生命周期过渡相关的特定变化。这些结果可能有助于遗传保健从业者了解家庭如何感知、应对和适应癌症风险咨询,从而为规划和实践阐明以家庭为导向的原则。

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本文引用的文献

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Family Communication and Genetic Counseling: The Case of Hereditary Breast and Ovarian Cancer.家庭沟通与遗传咨询:遗传性乳腺癌和卵巢癌案例
J Genet Couns. 1997 Mar;6(1):45-60. doi: 10.1023/A:1025611818643.
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Systemically-Based Psychotherapeutic Techniques in Genetic Counseling.遗传咨询中基于系统的心理治疗技术
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The Process of Family Reconstruction after DNA Testing for Huntington Disease.亨廷顿病DNA检测后的家庭重建过程。
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Health-related roles of older generations in families with inherited genetic conditions: a scoping review.有遗传疾病家庭中老一辈人的健康相关角色:一项范围综述
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Breast/ovarian cancer genetic counseling: Do anxiety, depression, and health care-related fears influence cancer worry and risk perception?乳腺癌/卵巢癌遗传咨询:焦虑、抑郁和与医疗保健相关的恐惧是否会影响对癌症的担忧和风险感知?
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Family Adjustment to Hereditary Cancer Syndromes: A Systematic Review.遗传性癌症综合征的家庭适应:系统评价。
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From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy.从年长者到年轻人:受家族性淀粉样多神经病影响的葡萄牙家庭中健康行为的代际促进
Eur J Hum Genet. 2017 Jun;25(6):687-693. doi: 10.1038/ejhg.2017.40. Epub 2017 Mar 22.
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Resilience among patients across the cancer continuum: diverse perspectives.癌症全程患者的复原力:多元视角
Clin J Oncol Nurs. 2014 Feb;18(1):93-101. doi: 10.1188/14.CJON.93-101.
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