Adapting transformer-based language models for heart disease detection and risk factors extraction

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Efficiently treating cardiac patients before the onset of a heart attack relies on the precise prediction of heart disease. Identifying and detecting the risk factors for heart disease such as diabetes mellitus, Coronary Artery Disease (CAD), hyperlipidemia, hypertension, smoking, familial CAD history, obesity, and medications is critical for developing effective preventative and management measures. Although Electronic Health Records (EHRs) have emerged as valuable resources for identifying these risk factors, their unstructured format poses challenges for cardiologists in retrieving relevant information. This research proposed employing transfer learning techniques to automatically extract heart disease risk factors from EHRs. Leveraging transfer learning, a deep learning technique has demonstrated a significant performance in various clinical natural language processing (NLP) applications, particularly in heart disease risk prediction. This study explored the application of transformer-based language models, specifically utilizing pre-trained architectures like BERT (Bidirectional Encoder Representations from Transformers), RoBERTa, BioClinicalBERT, XLNet, and BioBERT for heart disease detection and extraction of related risk factors from clinical notes, using the i2b2 dataset. These transformer models are pre-trained on an extensive corpus of medical literature and clinical records to gain a deep understanding of contextualized language representations. Adapted models are then fine-tuned using annotated datasets specific to heart disease, such as the i2b2 dataset, enabling them to learn patterns and relationships within the domain. These models have demonstrated superior performance in extracting semantic information from EHRs, automating high-performance heart disease risk factor identification, and performing downstream NLP tasks within the clinical domain. This study proposed fine-tuned five widely used transformer-based models, namely BERT, RoBERTa, BioClinicalBERT, XLNet, and BioBERT, using the 2014 i2b2 clinical NLP challenge dataset. The fine-tuned models surpass conventional approaches in predicting the presence of heart disease risk factors with impressive accuracy. The RoBERTa model has achieved the highest performance, with micro F1-scores of 94.27%, while the BERT, BioClinicalBERT, XLNet, and BioBERT models have provided competitive performances with micro F1-scores of 93.73%, 94.03%, 93.97%, and 93.99%, respectively. Finally, a simple ensemble of the five transformer-based models has been proposed, which outperformed the most existing methods in heart disease risk fan, achieving a micro F1-Score of 94.26%. This study demonstrated the efficacy of transfer learning using transformer-based models in enhancing risk prediction and facilitating early intervention for heart disease prevention.