英国NHS犹太BRCA检测计划:实施第一年 (2023-2024) 后的概述
Bethany Torr1,2, Nicola Bell1,2, Ruth McCarthy1,2
1Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Journal of medical genetics
|December 23, 2024
概括
国家卫生服务局的犹太BRCA测试计划为亚什肯纳兹犹太遗产的个人提供生殖基因BRCA1和BRCA2遗传测试. 该计划在2.3%的测试者中发现了致病变体,男性的发病率更高.
科学领域:
- 遗传学 是一个遗传学.
- 人口健康 人口健康
- 基因查 基因查 基因查
背景情况:
- 国家卫生服务局的犹太BRCA检测计划为至少有一个犹太祖父母的个人提供生殖系BRCA1和BRCA2遗传检测.
- 该计划的目标是具有阿什基纳兹犹太创始人生殖系致病变体 (gPVs) 风险较高的个人.
- 测试可以通过自我推,家庭唾液套件进行,并得到遗传咨询的支持.
研究的目的:
- 评估NHS犹太BRCA测试计划中的生殖基因BRCA1和BRCA2遗传测试的吸收和结果.
- 确定参与测试的趋势和致病变体的检测率.
主要方法:
- 分析了5389名在软启动阶段 (2023年1月至2024年1月) 报名参加该计划的个人数据.
- 该研究审查了测试同意率,结果和人口统计数据,包括BRCA变异家族史.
主要成果:
- 80.5%的注册人 (4339/5389) 同意进行测试.
- 在2.3% (98/4,274) 的测试个体中检测到一种致病变体,主要是亚什肯纳兹犹太创始人 (89.8%).
- 检测率在男性 (5.3%) 与女性 (1.6%) 相比显著更高,男性报告已知的家族BRCA变异的比例更高.
结论:
- 检测生殖系致病变体的检测率与其他犹太人口测试研究相比较.
- 自推途径,特别是对于男性来说,可能会增加对家族BRCA变异感知的人群的测试采用率.
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