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家族内传递遗传风险信息:综述。

Communicating genetic risk information within families: a review.

机构信息

CORE, Research Department of Clinical, Educational & Health Psychology, University College London, 19 Torrington Place, London WC1E 7HB, UK.

出版信息

Fam Cancer. 2010 Dec;9(4):691-703. doi: 10.1007/s10689-010-9380-3.

DOI:10.1007/s10689-010-9380-3
PMID:20852947
Abstract

This review of family communication of genetic risk information addresses questions of what the functions and influences on communication are; what, who and how family members are told about genetic risk information; what the impact for counsellee, relative and relationships are; whether there are differences by gender and condition; and what theories and methodologies are used. A systematic search strategy identified peer-reviewed journal articles published 1985-2009 using a mixture of methodologies. A Narrative Synthesis was used to extract and summarise data relevant to the research questions. This review identified 33 articles which found a consistent pattern of findings that communication about genetic risk within families is influenced by individual beliefs about the desirability of communicating genetic risk and by closeness of relationships within the family. None of the studies directly investigated the impact of communication on counsellees or their families, differences according to gender of counsellee or by condition nor alternative methods of communication with relatives. The findings mainly apply to late onset conditions such as Hereditary Breast and Ovarian Cancer. The most frequently used theory was Family Systems Theory and methods were generally qualitative. This review points to multifactorial influences on who is communicated with in families and what they are told about genetic risk information. Further research is required to investigate the impact of genetic risk information on family systems and differences between genders and conditions.

摘要

这篇关于遗传风险信息家庭沟通的综述探讨了沟通的功能和影响、向家庭成员传达遗传风险信息的内容、对象和方式、对咨询者、亲属和关系的影响、是否存在性别和疾病差异,以及使用了哪些理论和方法。采用混合方法的系统检索策略确定了 1985 年至 2009 年发表的同行评议期刊文章。采用叙述性综合方法提取和总结与研究问题相关的数据。这项综述确定了 33 篇文章,这些文章发现了一个一致的发现模式,即家庭内遗传风险沟通受到个体对沟通遗传风险的可取性的信念以及家庭内关系的密切程度的影响。没有一项研究直接调查沟通对咨询者或他们的家庭、咨询者的性别或疾病差异以及与亲属沟通的替代方法的影响。研究结果主要适用于遗传性乳腺癌和卵巢癌等迟发性疾病。最常使用的理论是家庭系统理论,方法通常是定性的。本综述指出了谁与家庭沟通以及向他们传达遗传风险信息的多因素影响。需要进一步研究来调查遗传风险信息对家庭系统的影响以及性别和疾病之间的差异。

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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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What facilitates or impedes family communication following genetic testing for cancer risk? A systematic review and meta-synthesis of primary qualitative research.癌症风险基因检测后,哪些因素促进或阻碍了家庭沟通?一项关于原发性定性研究的系统评价和元综合分析。
J Genet Couns. 2010 Aug;19(4):330-42. doi: 10.1007/s10897-010-9296-y. Epub 2010 Apr 9.
3
Family stories and the use of heuristics: women from suspected hereditary breast and ovarian cancer (HBOC) families.
直接给有遗传性癌症风险的亲属写信——一项关于医疗保健辅助与家庭介导风险披露的随机试验。
Eur J Hum Genet. 2025 Jul 31. doi: 10.1038/s41431-025-01922-w.
4
Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review.家族性高胆固醇血症中基因检测及级联检测应用的促进因素与障碍:一项系统综述
Int J Behav Med. 2025 Apr 8. doi: 10.1007/s12529-025-10357-y.
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The Development and Evaluation of Novel Patient Educational Material for a Variant of Uncertain Significance (VUS) Result in Hereditary Cancer Genes.新型遗传性癌症基因突变不确定意义(VUS)患者教育材料的开发与评估。
Curr Oncol. 2024 Jun 16;31(6):3361-3378. doi: 10.3390/curroncol31060256.
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Testing a Population-Based Outreach Intervention for Ovarian Cancer Survivors to Encourage their Close Relatives to Consider Genetic Counseling.基于人群的卵巢癌幸存者随访干预措施,以鼓励其近亲考虑遗传咨询。
Cancer Epidemiol Biomarkers Prev. 2024 Sep 3;33(9):1185-1193. doi: 10.1158/1055-9965.EPI-24-0147.
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Developing and assessing a kin keeping scale with application to identifying central influencers in African American family networks.开发并评估一种亲属维系量表,并将其应用于识别非裔美国家庭网络中的核心影响者。
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家族故事与启发法的运用:疑似遗传性乳腺癌和卵巢癌(HBOC)家族的女性
Sociol Health Illn. 2003 Nov;25(7):838-65. doi: 10.1046/j.1467-9566.2003.00372.x.
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Health Expect. 2008 Sep;11(3):220-31. doi: 10.1111/j.1369-7625.2008.00494.x.
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Communicating genetics research results to families: problems arising when the patient participant is deceased.
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Direct contact in inviting high-risk members of hereditary colon cancer families to genetic counselling and DNA testing.直接接触遗传性结肠癌家族的高危成员,邀请他们接受遗传咨询和DNA检测。
J Med Genet. 2007 Nov;44(11):732-8. doi: 10.1136/jmg.2007.051581. Epub 2007 Jul 14.
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