用知识图谱和原型学习,让患者自述信息更准地预测疾病。
Beyond Traditional Diagnostics: Transforming Patient-Side Information into Predictive Insights with Knowledge Graphs and Prototypes
- 构建医疗知识图谱与疾病原型,融合结构化医学知识
- 在真实数据集上显著提升长尾疾病预测准确率
- 结合大模型生成可解释的临床级解释,适合临床应用
仅基于患者侧信息(如人口统计学特征和自报症状)进行疾病预测,因其能提升患者意识、促进早期医疗介入并提高医疗系统效率,受到广泛关注。然而现有方法面临疾病分布不均与可解释性不足的问题,导致预测偏差或不可靠。为此,我们提出知识图谱增强、原型感知且可解释的KPI框架。该框架系统整合结构化可信医学知识,构建具有临床意义的疾病原型,并采用对比学习提升预测精度,尤其适用于长尾疾病。此外,KPI利用大语言模型生成患者特异性的医学相关解释,增强可解释性与可靠性。在真实世界数据集上的大量实验表明,KPI在预测准确率上优于现有先进方法,并提供与患者叙述高度一致的临床有效解释,凸显其在以患者为中心的医疗交付中的实用价值。
原文摘要 · Abstract (English)
Predicting diseases solely from patient-side information, such as demographics and self-reported symptoms, has attracted significant research attention due to its potential to enhance patient awareness, facilitate early healthcare engagement, and improve healthcare system efficiency. However, existing approaches encounter critical challenges, including imbalanced disease distributions and a lack of interpretability, resulting in biased or unreliable predictions. To address these issues, we propose the Knowledge graph-enhanced, Prototype-aware, and Interpretable (KPI) framework. KPI systematically integrates structured and trusted medical knowledge into a unified disease knowledge graph, constructs clinically meaningful disease prototypes, and employs contrastive learning to enhance predictive accuracy, which is particularly important for long-tailed diseases. Additionally, KPI utilizes large language models (LLMs) to generate patient-specific, medically relevant explanations, thereby improving interpretability and reliability. Extensive experiments on real-world datasets demonstrate that KPI outperforms state-of-the-art methods in predictive accuracy and provides clinically valid explanations that closely align with patient narratives, highlighting its practical value for patient-centered healthcare delivery.
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