参与罕见疾病遗传检测的心理社会因素:一个范围广泛的审查
Samantha Strasser1, Isabella R McDonald2, Melissa K Uveges2
1Global Public Health and the Common Good, Boston College, Chestnut Hill, MA 02467, USA.
Genes
|June 26, 2025
概括
对罕见疾病的基因测试 (GT) 面临心理社会障碍和推动者. 了解这些因素可以改善以患者为中心的护理和决策,帮助家庭应对罕见疾病.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 医学心理学 医学心理学
- 公共卫生 公共卫生
背景情况:
- 罕见疾病往往是遗传性的,需要长时间的诊断过程.
- 基因检测 (GT) 提供了一条缩短诊断时间的途径.
- 了解心理社会因素对于在罕见疾病中以患者为中心的护理至关重要.
研究的目的:
- 系统地审查和综合影响罕见疾病遗传测试决策的心理社会因素的证据.
- 为开发以人为中心的基因检测方法和治疗罕见疾病提供信息.
- 在罕见疾病的背景下识别遗传测试的促进者和障碍.
主要方法:
- 在六个数据库中进行系统的文献搜索 (2024年9月).
- 包括32项研究的独立双重审查,数据提取和专题分析.
- 将发现映射到计划行为理论中,用于干预开发,由患者倡导者验证.
主要成果:
- 确定了影响遗传测试决策的关键心理社会因素.
- 推动者包括理解GT,结束诊断旅程,可操作的结果,家族史,利他主义和生殖选择.
- 障碍包括后勤问题,心理负担,缺乏利益的感知,以及对歧视或社会耻辱的担忧.
结论:
- 罕见疾病GT中的心理社会因素与常见疾病的心理社会因素有相似之处.
- 鉴定的因素为基于理论的干预提供了目标.
- 干预措施应支持明智的,以患者为中心的基因测试决策,与个人价值观保持一致.
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