arXiv:2511.11293cs.LGq-bio.QM2025-11被引 3

用电子病历数据建模,发现癌症高危人群的效率比传统方法高3到6倍。

Toward Scalable Early Cancer Detection: Evaluating EHR-Based Predictive Models Against Traditional Screening Criteria

  • 基于电子病历的模型捕捉长期健康轨迹,识别早期癌症信号。
  • 在8种主要癌症中,新模型使高危人群中的真实病例数提升3-6倍。
  • 适合临床早筛系统升级,尤其关注精准、大规模筛查的团队。

当前癌症筛查指南仅覆盖少数癌种,依赖年龄或吸烟史等单一风险因素来识别高危人群。利用电子健康记录(EHR)构建的预测模型,可整合大规模纵向患者健康数据,更有效检测癌症前兆信号。随着大语言模型和基础模型的发展,其潜力进一步扩大,但与传统风险因素相比的实际效用仍缺乏证据。本研究基于‘所有人’研究计划(All of Us Research Program),整合超86.5万名参与者的真实世界数据(包含EHR、基因组和问卷数据),系统评估了基于EHR的预测模型在8种主要癌症(乳腺、肺、结直肠、前列腺、卵巢、肝、胰腺、胃)中的临床价值。即使采用基础建模方法,基于EHR的模型在识别高危个体时,其真实癌症病例的富集度较传统风险因素高出3至6倍,无论作为独立工具或辅助手段均表现优异。采用前沿的EHR基础模型,在26种癌症类型上进一步提升了预测性能,验证了基于EHR的预测建模在支持更精准、可扩展的早期癌症检测方面的临床潜力。

原文摘要 · Abstract (English)

Current cancer screening guidelines cover only a few cancer types and rely on narrowly defined criteria such as age or a single risk factor like smoking history, to identify high-risk individuals. Predictive models using electronic health records (EHRs), which capture large-scale longitudinal patient-level health information, may provide a more effective tool for identifying high-risk groups by detecting subtle prediagnostic signals of cancer. Recent advances in large language and foundation models have further expanded this potential, yet evidence remains limited on how useful EHR-based models are compared with traditional risk factors currently used in screening guidelines. We systematically evaluated the clinical utility of EHR-based predictive models against traditional risk factors, including gene mutations and family history of cancer, for identifying high-risk individuals across eight major cancers (breast, lung, colorectal, prostate, ovarian, liver, pancreatic, and stomach), using data from the All of Us Research Program, which integrates EHR, genomic, and survey data from over 865,000 participants. Even with a baseline modeling approach, EHR-based models achieved a 3- to 6-fold higher enrichment of true cancer cases among individuals identified as high risk compared with traditional risk factors alone, whether used as a standalone or complementary tool. The EHR foundation model, a state-of-the-art approach trained on comprehensive patient trajectories, further improved predictive performance across 26 cancer types, demonstrating the clinical potential of EHR-based predictive modeling to support more precise and scalable early detection strategies.

早筛电子病历预测模型癌症

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