医疗系统主导的早期同意和风险亲属的直接接触:试点研究结果
Nora B Henrikson1, Aaron Scrol1, Jamilyn M Zepp2
1Kaiser Permanente Washington Health Research Institute, Seattle, Washington, USA.
Public health genomics
|April 3, 2025
概括
直接联系患有遗传癌症风险的个体的亲属成功地让他们参与了基因测试. 这种直接推广方法被证明是可以接受的,并且有效地传达了关键的遗传测试结果,为改善癌症风险管理提供了有希望的途径.
科学领域:
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
- 在瘤学瘤学.
背景情况:
- 对于有遗传性癌症风险的亲属,建议进行级联遗传测试.
- 目前美国的做法依赖于探测器通知亲属,导致错过了早期风险检测的机会.
- 直接接触干预措施提供了一个潜在的解决方案,可以接触到不了解自己遗传风险的亲属.
研究的目的:
- 评估直接接触干预措施的可接受性和有效性,以达到有风险的亲属.
- 评估在直接接触基因测试计划中的试验和相对参与.
- 测量探针和基因测试结果向有风险的亲属的传播.
主要方法:
- 一个前性的单臂试点研究,涉及成年人接受遗传咨询,以预防遗传癌症风险.
- 一位遗传咨询师提出在获得试验同意后与有风险的亲属联系.
- 使用调查和行政数据来评估外展,可接受性和有效性.
主要成果:
- 在148名受访者中,有37%的人表示同意. 在完成基因检测的人中,有29人同意与101名亲属联系.
- 联系的亲属中有44%同意参与.
- 没有报告任何危害;干预被认为是可以接受的,并有效地传达了试验和测试结果,包括6个致病性/可能致病性发现.
结论:
- 对遗传性癌症风险的直接接触计划是可以接受和可行的.
- 这种干预成功地接触到有风险的亲属,并促进了基因测试结果的传播.
- 直接接触,与早期的亲属同意,显示未来研究遗传性癌症管理的希望.
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