PO.PR01.02 · 预防研究
基于常规实验室检测的AI赋能癌症风险评估模型用于富集高癌症风险个体
AI-empowered cancer risk assessment model based on routine laboratory tests for enriching individuals at high risk of cancer
作者与单位 Authors & Affiliations
摘要 Abstract
中文摘要
背景:癌症的早期检测可提高生存率,然而全人群筛查在成本和后勤方面仍具挑战性。传统的癌症风险模型,如基于生活方式的评估和多基因风险评分,敏感性有限。相比之下,常规实验室检测(全血细胞计数、尿液分析和生化组合)在初级保健中已被广泛开展,可能蕴含潜在的癌症信号。我们利用这些现有数据开发了一种基于AI的癌症风险评估(CRA)模型,以富集癌症病例并提高下游多癌种早期检测(MCED)检测的成本效益。
方法:回顾性收集了来自两家医院的5,376名个体(1,399例癌症;3,977例非癌症)的常规实验室数据,并分为训练和验证队列。共选择43个特征,使用梯度提升框架计算CRA评分。所有参与者还接受了OncoSeek检测,这是一种经过验证的MCED检测,结合了多种蛋白肿瘤标志物与临床数据,应用于CRA阳性个体。
结果:CRA模型在训练和验证队列中分别达到0.738和0.802的AUC,在50.0%和47.2%的特异性下敏感性分别为87.5%和90.0%。在预测为阳性的个体中(CRA > 0.4,n = 3241),癌症患病率从26.0%增加到38.2%(1.5倍富集)。在这一富集群体中,OncoSeek在97.3%特异性下达到37.0%敏感性,当限于其覆盖的14种癌症类型时敏感性为56.6%。此外,在高危亚组(CRA > 0.88,n = 231)内,65.4%为癌症患者,晚期疾病比例(IV期:42.2%)高于整体队列(25.0%),提示有潜力标记需要及时诊断评估的患者。在100万名≥50岁成人(发病率 = 0.9%)中的人群水平模拟显示,在OncoSeek之前加入CRA可将癌症发病率提高至1.5%(1.7倍),减少33.3%的假阳性,并将总筛查成本减半(8000万美元→4050万美元),使每检出病例的成本降低44.1%,展示了效率和成本效益的改善。
结论:基于AI的CRA模型利用常规初级保健数据,提供了远高于多基因风险评分的敏感性和更广泛的适用性。除了富集用于筛查的癌症发病率外,CRA还可在EMR系统中标记具有强癌症信号、可能需要及时诊断评估的个体。当作为MCED检测前的前端富集步骤整合时,该方法有效地筛除了低风险个体,减少了不必要的下游检测,并将筛查成本减半,而敏感性仅有适度(约9%)降低。CRA + MCED的组合框架为精准人群水平癌症早期检测提供了一条可扩展且经济可持续的途径。
查看英文原文 English abstract
Background : Early cancer detection improves survival, yet population-wide screening remains costly and logistically challenging. Traditional cancer risk models, such as lifestyle-based assessments and polygenic risk scores, offer limited sensitivity. In contrast, routine laboratory tests (complete blood count, urinalysis, and biochemical panels) are already widely performed in primary care and may harbor latent cancer signals. We developed an AI-based cancer risk assessment (CRA) model using these existing data to enrich cancer cases and improve the cost-effectiveness of downstream multi-cancer early detection (MCED) tests.
Methods : Routine laboratory data from 5,376 individuals (1,399 cancer; 3,977 non-cancer) across two hospitals were retrospectively collected and split into training and validation cohorts. A total of 43 features were selected to calculate CRA scores using a gradient boosting framework. All participants also underwent OncoSeek testing, a validated MCED assay combining multiple protein tumor markers with clinical data, applied to CRA-positive individuals.
Results: The CRA model achieved AUCs of 0.738 and 0.802, with sensitivities of 87.5% and 90.0% at specificities of 50.0% and 47.2% in the training and validation cohorts. Among individuals predicted positive (CRA > 0.4, n = 3241), cancer prevalence increased from 26.0% to 38.2% (1.5-fold enrichment). In this enriched group, OncoSeek achieved 37.0% sensitivity at 97.3% specificity, and 56.6% sensitivity when restricted to its covered 14 cancer types. Furthermore, within the high-risk subgroup (CRA > 0.88, n = 231), 65.4% were cancer patients, with a higher proportion of advanced disease (Stage IV: 42.2%) than the overall cohort (25.0%), indicating potential to flag patients needing prompt diagnostic evaluation.A population-level simulation in 1 million adults ≥50 years (incidence = 0.9%) showed that adding CRA before OncoSeek increased cancer incidence to 1.5% (1.7-fold), reduced false positives by 33.3%, and halved total screening cost ($80.0 M → $40.5 M), lowering cost per detected case by 44.1%, demonstrating improved efficiency and cost-effectiveness.
Conclusion : The AI-based CRA model, leveraging routine primary care data, provides substantially higher sensitivity and broader applicability than polygenic risk scores. Beyond enriching cancer incidence for screening, CRA can also flag individuals with strong cancer signals who may require prompt diagnostic evaluation in EMR system. When integrated as a front-end enrichment step before MCED testing, this approach effectively filters out low-risk individuals, reduces unnecessary downstream testing, and halves screening costs with only a modest (~9%) sensitivity reduction. The combined CRA + MCED framework offers a scalable and economically sustainable pathway for precision population-level cancer early detection.
利益披露 Disclosure
M. Mao,
SeekIn Employment, Stock Option.
Y. Luan, None..
Y. Shen, None.
S. Li,
SeekIn Employment, Stock Option.
S. Long,
SeekIn Employment, Stock Option.
W. Wu,
SeekIn Employment, Stock Option.