Hunik Liesbeth, Chaabouni Asma, van Laarhoven Twan, Olde Hartman Tim C, Leijenaar Ralph T H, Cals Jochen W L, Uijen Annemarie A, Schers Henk J
Department of Primary and Community Care, Research Institute for Medical Innovation, Radboudumc, Geert Grooteplein Zuid 21, Nijmegen, 6525 GA, The Netherlands, 31 243618181.
Institute for Computing and Information Science, Radboud University, Nijmegen, The Netherlands.
JMIR Med Inform. 2025 Aug 22;13:e62862. doi: 10.2196/62862.
Artificial intelligence (AI)-based diagnostic prediction models could aid primary care (PC) in decision-making for faster and more accurate diagnoses. AI has the potential to transform electronic health records (EHRs) data into valuable diagnostic prediction models. Different prediction models based on EHR have been developed. However, there are currently no systematic reviews that evaluate AI-based diagnostic prediction models for PC using EHR data.
This study aims to evaluate the content of diagnostic prediction models based on AI and EHRs in PC, including risk of bias and applicability.
This systematic review was performed according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. MEDLINE, Embase, Web of Science, and Cochrane were searched. We included observational and intervention studies using AI and PC EHRs and developing or testing a diagnostic prediction model for health conditions. Two independent reviewers (LH and AC) used a standardized data extraction form. Risk of bias and applicability were assessed using PROBAST (Prediction Model Risk of Bias Assessment Tool).
From 10,657 retrieved records, a total of 15 papers were selected. Most EHR papers focused on 1 chronic health care condition (n=11, 73%). From the 15 papers, 13 (87%) described a study that developed a diagnostic prediction model and 2 (13%) described a study that externally validated and tested the model in a PC setting. Studies used a variety of AI techniques. The predictors used to develop the model were all registered in the EHR. We found no papers with a low risk of bias, and high risk of bias was found in 9 (60%) papers. Biases covered an unjustified small sample size, not excluding predictors from the outcome definition, and the inappropriate evaluation of the performance measures. The risk of bias was unclear in 6 papers, as no information was provided on the handling of missing data and no results were reported from the multivariate analysis. Applicability was unclear in 10 (67%) papers, mainly due to lack of clarity in reporting the time interval between outcomes and predictors.
Most AI-based diagnostic prediction models based on EHR data in PC focused on 1 chronic condition. Only 2 papers tested the model in a PC setting. The lack of sufficiently described methods led to a high risk of bias. Our findings highlight that the currently available diagnostic prediction models are not yet ready for clinical implementation in PC.
基于人工智能(AI)的诊断预测模型有助于基层医疗(PC)进行决策,以实现更快、更准确的诊断。人工智能有潜力将电子健康记录(EHR)数据转化为有价值的诊断预测模型。已经开发了基于电子健康记录的不同预测模型。然而,目前尚无系统评价来评估使用电子健康记录数据的基于人工智能的基层医疗诊断预测模型。
本研究旨在评估基层医疗中基于人工智能和电子健康记录的诊断预测模型的内容,包括偏倚风险和适用性。
本系统评价按照PRISMA(系统评价和Meta分析的首选报告项目)指南进行。检索了MEDLINE、Embase、科学网和Cochrane数据库。我们纳入了使用人工智能和基层医疗电子健康记录并针对健康状况开发或测试诊断预测模型的观察性和干预性研究。两名独立的评审员(LH和AC)使用标准化的数据提取表。使用PROBAST(预测模型偏倚风险评估工具)评估偏倚风险和适用性。
从检索到的10657条记录中,共筛选出15篇论文。大多数电子健康记录论文聚焦于1种慢性健康状况(n = 11,73%)。在这15篇论文中,13篇(87%)描述了一项开发诊断预测模型的研究,2篇(13%)描述了一项在基层医疗环境中对模型进行外部验证和测试的研究。研究使用了多种人工智能技术。用于开发模型的预测因素均记录在电子健康记录中。我们未发现偏倚风险低的论文,9篇(60%)论文存在高偏倚风险。偏倚包括样本量过小不合理、未将预测因素排除在结局定义之外以及对性能指标的评估不当。6篇论文的偏倚风险不明确,因为未提供关于缺失数据处理的信息,且多变量分析未报告结果。10篇(67%)论文的适用性不明确,主要原因是结局与预测因素之间的时间间隔报告不清晰。
基层医疗中大多数基于电子健康记录数据的基于人工智能的诊断预测模型聚焦于1种慢性病。只有2篇论文在基层医疗环境中对模型进行了测试。方法描述不充分导致偏倚风险高。我们的研究结果表明,目前可用的诊断预测模型尚未准备好在基层医疗中临床应用。