通过使用健康记录数据和机器学习,减少急性肝脏病的诊断延迟
Balu Bhasuran1, Katharina Schmolly2, Yuvraaj Kapoor3
1Bakar Computational Health Sciences Institute, University of California, San Francisco, San Francisco, CA 94143, United States.
概括
机器学习模型在减少罕见疾病急性肝孔病 (AHP) 的诊断延迟方面表现有希望. 这些模型可以更早地识别潜在的AHP病例,改善患者的治疗结果,并可能在诊断过程中节省大量时间.
科学领域:
- 计算医学是一种计算医学.
- 罕见疾病的诊断 罕见疾病的诊断
- 医疗保健中的机器学习
背景情况:
- 急性肝孔病 (AHP) 是一组罕见的,可治疗的疾病,通常在显著的延迟 (平均15年) 后被诊断出来.
- 电子健康记录 (EHR) 和机器学习 (ML) 为早期识别罕见疾病 (如AHP) 提供了潜力.
- 培训预测模型面临的挑战包括有限的病例数量,非结构化的EHR数据和医疗保健选择偏见.
研究的目的:
- 开发和评估机器学习模型,使用EHR数据识别患有AHP的患者.
- 预测患者转诊急性紫外线检测和转诊患者的阳性检测结果.
主要方法:
- 利用了来自两个大学医学中心 (UCSF和UCLA) 的结构化和非结构化EHR数据,涵盖2012-2022年.
- 开发了两个预测模型:一个用于转诊测试 (腹痛队列) 和一个用于阳性测试结果 (诊断队列).
- 采用了各种 ML 架构,采用了知识图数据的半自动特征选择;主要结果是 F-score.
主要成果:
- 最好的推模型获得了86%-91%的F分,最好的诊断模型获得了92%的F分.
- 后期分析表明,模型可以更早地识别71%的AHP病例,可能节省1.2年的诊断时间.
- 外部验证试图招募预测为高风险患者的患者,但参与度有限,这突显了招募的挑战.
结论:
- 机器学习具有显著的潜力,可以减少AHP和其他罕见疾病的诊断延迟.
- 在临床部署之前,通过强大的招聘策略和多中心合作进行进一步验证是必不可少的.
- 基于ML的诊断支持可以改善罕见疾病的及时识别和管理.
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