@inproceedings{zhao-etal-2024-mkecl,
    title = "{MK}e{CL}: Medical Knowledge-Enhanced Contrastive Learning for Few-shot Disease Diagnosis",
    author = "Zhao, Yutian  and
      Wang, Huimin  and
      Wu, Xian  and
      Zheng, Yefeng",
    editor = "Calzolari, Nicoletta  and
      Kan, Min-Yen  and
      Hoste, Veronique  and
      Lenci, Alessandro  and
      Sakti, Sakriani  and
      Xue, Nianwen",
    booktitle = "Proceedings of the 2024 Joint International Conference on Computational Linguistics, Language Resources and Evaluation (LREC-COLING 2024)",
    month = may,
    year = "2024",
    address = "Torino, Italia",
    publisher = "ELRA and ICCL",
    url = "https://aclanthology.org/2024.lrec-main.996",
    pages = "11394--11404",
    abstract = "Artificial intelligence (AI)-aided disease prediction has gained extensive research interest due to its capability to support clinical decision-making. Existing works mainly formulate disease prediction as a multi-label classification problem and use historical Electronic Medical Records (EMR) to train supervised models. However, in real-world clinics, such purely data-driven approaches pose two main challenges: 1) long tail problem: there are excessive EMRs for common diseases and insufficient EMRs for rare diseases, thus training over an imbalanced data set could result in a biased model that ignores rare diseases in diagnosis; 2) easily misdiagnosed diseases: some diseases can be easily distinguished while others sharing analogous conditions are much more difficult. General classification models without emphasizing easily misdiagnosed diseases may generate incorrect predictions. To tackle these two problems, we propose a Medical Knowledge-Enhanced Contrastive Learning (\textbf{MKeCL}) approach to disease diagnosis in this paper. MKeCL incorporates medical knowledge graphs and medical licensing exams in modeling in order to compensate for the insufficient information on rare diseases; To handle hard-to-diagnose diseases, MKeCL introduces a contrastive learning strategy to separate diseases that are easily misdiagnosed. Moreover, we establish a new benchmark, named \textbf{Jarvis-D}, which contains clinical EMRs collected from various hospitals. Experiments on real clinical EMRs show that the proposed MKeCL outperforms existing disease prediction approaches, especially in the setting of few-shot and zero-shot scenarios.",
}

Artificial intelligence (AI)-aided disease prediction has gained extensive research interest due to its capability to support clinical decision-making. Existing works mainly formulate disease prediction as a multi-label classification problem and use historical Electronic Medical Records (EMR) to train supervised models. However, in real-world clinics, such purely data-driven approaches pose two main challenges: 1) long tail problem: there are excessive EMRs for common diseases and insufficient EMRs for rare diseases, thus training over an imbalanced data set could result in a biased model that ignores rare diseases in diagnosis; 2) easily misdiagnosed diseases: some diseases can be easily distinguished while others sharing analogous conditions are much more difficult. General classification models without emphasizing easily misdiagnosed diseases may generate incorrect predictions. To tackle these two problems, we propose a Medical Knowledge-Enhanced Contrastive Learning (\textbf{MKeCL}) approach to disease diagnosis in this paper. MKeCL incorporates medical knowledge graphs and medical licensing exams in modeling in order to compensate for the insufficient information on rare diseases; To handle hard-to-diagnose diseases, MKeCL introduces a contrastive learning strategy to separate diseases that are easily misdiagnosed. Moreover, we establish a new benchmark, named \textbf{Jarvis-D}, which contains clinical EMRs collected from various hospitals. Experiments on real clinical EMRs show that the proposed MKeCL outperforms existing disease prediction approaches, especially in the setting of few-shot and zero-shot scenarios.
Zhao, Yutian Wang, Huimin Wu, Xian Zheng, Yefeng
MKeCL: Medical Knowledge-Enhanced Contrastive Learning for Few-shot Disease Diagnosis