在人口乳腺癌查试验中接收致病变体:混合方法研究
Leslie Riddle1, Jennifer Elyse James2, Arash Naeim3
1Department of Humanities and Social Sciences, UCSF, San Francisco, California, USA.
Public health genomics
|September 22, 2024
概括
接受乳腺癌风险遗传结果的WISDOM试验的参与者报告了不同的准备. 大多数人与亲属分享结果,高风险发现的沟通率更高,有助于级联测试.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 公共卫生 公共卫生
背景情况:
- 基于风险的乳腺癌查对于降低高发病率和死亡率至关重要.
- 根据风险测量 (WISDOM) 试验的妇女被告知选调查了参与者对基因组结果的经验.
研究的目的:
- 为了检查获得乳腺癌基因病原体变异的WISDOM试验参与者的经验.
- 了解基因组风险评估后的参与者准备,结果共享和级联测试.
主要方法:
- 在披露后立即进行调查 (n=181) 和一年后进行调查.
- 定性访谈 (n=42) 进行在两个时间点 (2-4周和6个月).
- 风险组之间进行了统计比较;基于调查结果的定性数据.
主要成果:
- 66.3%的受访者觉得准备好接受基因组检测结果;80.7%的受访者最初与亲属分享了基因组检测结果,到第二季度,这一比例上升到88.4%.
- 分享的原因包括提供信息和鼓励级联测试.
- 高风险参与者与亲属,医疗服务提供者之间的沟通增加,并出现了较高的连续测试率.
结论:
- 大多数参与者与家人和提供者分享了结果,与风险水平保持一致.
- 在为病原体结果准备个人和确保可访问的后续护理方面,仍然存在挑战.
- 在基于人群风险的查计划中,促进遗传咨询和级联测试至关重要.
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