在医疗服务不足的人群中,面向患者的电子癌症家族史工具的可行性
Heather Spencer Feigelson1,2, Kathleen F Mittendorf3, Sonia Okuyama4
1Institute for Health Research, Kaiser Permanente, Denver, CO.
Genetics in medicine open
|December 13, 2024
概括
一个新的电子工具有效地收集了初级保健中的家族病史,有助于识别遗传性癌症综合征. 这个工具显示了与遗传咨询师评估的适度一致,并可以帮助那些有医疗接入障碍的人.
科学领域:
- 遗传学 是一个遗传学.
- 主要护理是指初级护理.
- 医疗信息学 医疗信息学
背景情况:
- 家庭病史对于识别遗传性癌症综合征至关重要.
- 传统的家族史收集方法可能会耗时,并且可能不适合所有患者.
- 电子工具为有效和广泛的家族史数据收集提供了潜在的解决方案.
研究的目的:
- 为初级保健机构开发和评估面向患者的电子家族病史收集工具.
- 根据遗传咨询师收集的数据,评估该工具的性能,包括B-RST 3.0和PREMM5风险评估.
- 确定该工具在临床风险分层中对具有进入障碍的患者的有用性.
主要方法:
- 开发了一个电子工具,包含B-RST 3.0,PREMM5和有限的家庭知识数据.
- 18-49岁的患者完成了该工具;那些知识有限或高/中等风险的患者提供了遗传咨询.
- 使用Krippendorff的alpha (K-alpha) 评估了工具和遗传咨询师数据之间的一致性.
主要成果:
- 该工具的完成率很高 (94%).
- 对于B-RST 3.0 (K-alpha = .40) 和PREMM5 (K-alpha = .52) 发现了适度的协议.
- 对具有临床显著遗传性癌症综合征风险的个体观察到高一致性 (96%);访问障碍不会影响准确性.
结论:
- 开发的电子工具可以增强对具有遗传性癌症综合征风险的个体的识别.
- 这种工具对于面临医疗保健获取障碍的人群尤其有价值.
- 在初级保健机构实施可以改善遗传性癌症的早期检测和干预.
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