通过使用遗传定义的亲属关系在EHR中评估癌症家族史的完整性:一个横截面研究
Daniel Kiser1,2, Gai Elhanan1,2, Karen A Schlauch1,2
1University of Nevada, Reno School of Medicine, Reno, NV.
Genetics in medicine open
|October 2, 2025
概括
电子健康记录 (EHR) 中癌症的家族史记录很差,超过一半的亲属的癌症诊断失踪. 这种对家族风险的低估导致了早期癌症检测和预防的错失机会.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 公共卫生 公共卫生
- 在瘤学瘤学.
背景情况:
- 家庭病史是识别遗传性疾病风险的关键工具.
- 在电子健康记录 (EHR) 中对家族病史的不充分记录可能导致低估家族癌症风险.
研究的目的:
- 评估患者亲属的癌症诊断率,这些患者亲属的癌症诊断率作为家庭病史 (FHx) 记录在EHR中.
- 确定影响FHx文档准确性的因素.
主要方法:
- 分析了903名来自健康内华达州项目的参与者,并进行了亲属关系分析,以确定癌症诊断的亲属.
- 使用概括估计方程,对亲属癌症类型的电子健康记录记录率的量化.
主要成果:
- 在EHR中癌症FHx文档的总比率为45.2%.
- 记录率因患者年龄,亲属诊断后的时间以及患者和亲属的性别而有很大差异.
- 在二次分析中,41%的BRCA1/2变异患者符合基于EHR的家族风险标准,如果记录了所有已知的相对癌症,则额外有7%的合格.
结论:
- 超过一半的患者亲属的癌症诊断没有在电子健康记录中记录,这导致了对家族癌症风险的低估.
- 低估家族风险可能导致癌症预防和早期干预的机会被错过.
- 改进EHR中的FHx文档对于准确的风险评估和个性化癌症护理至关重要.
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