A GPT-based EHR modeling system for unsupervised novel disease detection

IF 4 2区 医学 Q2 COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS Journal of Biomedical Informatics Pub Date : 2024-08-08 DOI:10.1016/j.jbi.2024.104706
Boran Hao , Yang Hu , William G. Adams , Sabrina A. Assoumou , Heather E. Hsu , Nahid Bhadelia , Ioannis Ch. Paschalidis
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Abstract

Objective

To develop an Artificial Intelligence (AI)-based anomaly detection model as a complement of an “astute physician” in detecting novel disease cases in a hospital and preventing emerging outbreaks.

Methods

Data included hospitalized patients (n = 120,714) at a safety-net hospital in Massachusetts. A novel Generative Pre-trained Transformer (GPT)-based clinical anomaly detection system was designed and further trained using Empirical Risk Minimization (ERM), which can model a hospitalized patient’s Electronic Health Records (EHR) and detect atypical patients. Methods and performance metrics, similar to the ones behind the recent Large Language Models (LLMs), were leveraged to capture the dynamic evolution of the patient’s clinical variables and compute an Out-Of-Distribution (OOD) anomaly score.

Results

In a completely unsupervised setting, hospitalizations for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection could have been predicted by our GPT model at the beginning of the COVID-19 pandemic, with an Area Under the Receiver Operating Characteristic Curve (AUC) of 92.2 %, using 31 extracted clinical variables and a 3-day detection window. Our GPT achieves individual patient-level anomaly detection and mortality prediction AUC of 78.3 % and 94.7 %, outperforming traditional linear models by 6.6 % and 9 %, respectively. Different types of clinical trajectories of a SARS-CoV-2 infection are captured by our model to make interpretable detections, while a trend of over-pessimistic outcome prediction yields a more effective detection pathway. Furthermore, our comprehensive GPT model can potentially assist clinicians with forecasting patient clinical variables and developing personalized treatment plans.

Conclusion

This study demonstrates that an emerging outbreak can be accurately detected within a hospital, by using a GPT to model patient EHR time sequences and labeling them as anomalous when actual outcomes are not supported by the model. Such a GPT is also a comprehensive model with the functionality of generating future patient clinical variables, which can potentially assist clinicians in developing personalized treatment plans.

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基于 GPT 的电子病历建模系统,用于无监督新型疾病检测。
目的开发一种基于人工智能(AI)的异常检测模型,作为 "精明医生 "的辅助工具,检测医院中的新型疾病病例,预防新出现的疾病爆发:数据包括马萨诸塞州一家安全网医院的住院病人(n = 120,714)。设计了一种基于生成预训练变换器(GPT)的新型临床异常检测系统,并使用经验风险最小化(ERM)对其进行了进一步训练,该系统可对住院患者的电子健康记录(EHR)进行建模并检测出非典型患者。该系统采用了与最近的大型语言模型(LLM)类似的方法和性能指标,以捕捉患者临床变量的动态演变,并计算出异常分布(OOD)得分:在完全无监督的情况下,我们的GPT模型可以在COVID-19大流行初期预测严重急性呼吸系统综合症冠状病毒2(SARS-CoV-2)感染的住院情况,使用31个提取的临床变量和3天的检测窗口,接收者工作特征曲线下面积(AUC)为92.2%。我们的 GPT 在单个患者层面的异常检测和死亡率预测 AUC 分别达到 78.3% 和 94.7%,分别比传统线性模型高出 6.6% 和 9%。我们的模型捕捉到了 SARS-CoV-2 感染的不同类型临床轨迹,从而进行了可解释的检测,而过度悲观的结果预测趋势则产生了更有效的检测途径。此外,我们的综合 GPT 模型有可能帮助临床医生预测病人的临床变量,并制定个性化的治疗方案:本研究表明,通过使用 GPT 对患者电子病历时间序列建模,并在实际结果与模型不符时将其标记为异常,可以在医院内准确检测到新出现的疫情。这种 GPT 还是一种综合模型,具有生成未来病人临床变量的功能,可帮助临床医生制定个性化治疗方案。
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来源期刊
Journal of Biomedical Informatics
Journal of Biomedical Informatics 医学-计算机:跨学科应用
CiteScore
8.90
自引率
6.70%
发文量
243
审稿时长
32 days
期刊介绍: The Journal of Biomedical Informatics reflects a commitment to high-quality original research papers, reviews, and commentaries in the area of biomedical informatics methodology. Although we publish articles motivated by applications in the biomedical sciences (for example, clinical medicine, health care, population health, and translational bioinformatics), the journal emphasizes reports of new methodologies and techniques that have general applicability and that form the basis for the evolving science of biomedical informatics. Articles on medical devices; evaluations of implemented systems (including clinical trials of information technologies); or papers that provide insight into a biological process, a specific disease, or treatment options would generally be more suitable for publication in other venues. Papers on applications of signal processing and image analysis are often more suitable for biomedical engineering journals or other informatics journals, although we do publish papers that emphasize the information management and knowledge representation/modeling issues that arise in the storage and use of biological signals and images. System descriptions are welcome if they illustrate and substantiate the underlying methodology that is the principal focus of the report and an effort is made to address the generalizability and/or range of application of that methodology. Note also that, given the international nature of JBI, papers that deal with specific languages other than English, or with country-specific health systems or approaches, are acceptable for JBI only if they offer generalizable lessons that are relevant to the broad JBI readership, regardless of their country, language, culture, or health system.
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