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识别与遗传性癌症综合征基因服务利用相关的社会心理障碍和促进因素:定性研究的系统综述

Identifying the psychosocial barriers and facilitators associated with the uptake of genetic services for hereditary cancer syndromes: a systematic review of qualitative studies.

作者信息

Tasnim Sara, Lim Phoebe Xin Hui, Griva Konstadina, Ngeow Joanne

机构信息

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

出版信息

Health Psychol Rev. 2025 Mar;19(1):172-199. doi: 10.1080/17437199.2024.2415950. Epub 2024 Oct 22.

DOI:10.1080/17437199.2024.2415950
PMID:39435867
Abstract

Despite evidence supporting genetic testing's utility in hereditary cancer risk management, uptake remains low among at-risk relatives of a hereditary cancer patient. The qualitative systematic review aims to identify the psychosocial barriers and facilitators associated with the uptake of genetic counselling services and/or genetic testing (GC/GT). A systematic literature search was performed across six databases in June 2023, limited to studies published in English from 2010 onwards. Qualitative studies interviewing hereditary cancer patients, their relatives, and/or healthcare providers to identify the psychosocial barriers and facilitators associated with the uptake of genetic testing for hereditary cancer syndrome were eligible for inclusion. A thematic analysis was conducted on the extracted data from 41 eligible qualitative studies. 54% of the studies were from the United States and 75% of the participants were female. 14 psychosocial barriers and nine facilitators to the uptake of genetic testing services were identified. The most frequently cited psychosocial barriers to genetic testing uptake were 'emotional roller coaster', 'threat of genetic discrimination', and 'no perceived benefit of genetic testing'. In contrast, the most common facilitators were 'concern for family', 'easing personal worries', and 'knowledge is empowering'. Our findings reveal complex factors affecting GC/GT service uptake, some with dual effects.

摘要

尽管有证据支持基因检测在遗传性癌症风险管理中的作用,但在遗传性癌症患者的高危亲属中,基因检测的接受率仍然很低。这项定性系统评价旨在确定与接受遗传咨询服务和/或基因检测(GC/GT)相关的社会心理障碍和促进因素。2023年6月在六个数据库中进行了系统的文献检索,限于2010年以后发表的英文研究。对遗传性癌症患者、其亲属和/或医疗服务提供者进行访谈,以确定与遗传性癌症综合征基因检测接受相关的社会心理障碍和促进因素的定性研究符合纳入条件。对从41项符合条件的定性研究中提取的数据进行了主题分析。54%的研究来自美国,75%的参与者为女性。确定了14个基因检测服务接受的社会心理障碍和9个促进因素。基因检测接受方面最常被提及的社会心理障碍是“情绪起伏”、“基因歧视的威胁”和“认为基因检测没有益处”。相比之下,最常见的促进因素是“对家人的关心”、“减轻个人担忧”和“知识就是力量”。我们的研究结果揭示了影响GC/GT服务接受的复杂因素,其中一些具有双重作用。

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引用本文的文献

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Acceptance and attitudes towards genetic cancer testing among German general practice patients: a cross-sectional survey.德国全科医疗患者对遗传性癌症检测的接受度和态度:一项横断面调查。
Fam Med Community Health. 2025 Jul 31;13(3):e003395. doi: 10.1136/fmch-2025-003395.