Abstract

Natural language processing (NLP) models such as bidirectional encoder representations from transformers (BERT) hold promise in revolutionizing disease identification from electronic health records (EHRs) by potentially enhancing efficiency and accuracy. However, their practical application in practice settings demands a comprehensive and multidisciplinary approach to development and validation. The COVID-19 pandemic highlighted challenges in disease identification due to limited testing availability and challenges in handling unstructured data. In the Netherlands, where general practitioners (GPs) serve as the first point of contact for health care, EHRs generated by these primary care providers contain a wealth of potentially valuable information. Nonetheless, the unstructured nature of free-text entries in EHRs poses challenges in identifying trends, detecting disease outbreaks, or accurately pinpointing COVID-19 cases. This study aims to develop and validate a BERT model for detecting COVID-19 consultations in general practice EHRs in the Netherlands. The BERT model was initially pretrained on Dutch language data and fine-tuned using a comprehensive EHR data set comprising confirmed COVID-19 GP consultations and non-COVID-19-related consultations. The data set was partitioned into a training and development set, and the model's performance was evaluated on an independent test set that served as the primary measure of its effectiveness in COVID-19 detection. To validate the final model, its performance was assessed through 3 approaches. First, external validation was applied on an EHR data set from a different geographic region in the Netherlands. Second, validation was conducted using results of polymerase chain reaction (PCR) test data obtained from municipal health services. Lastly, correlation between predicted outcomes and COVID-19-related hospitalizations in the Netherlands was assessed, encompassing the period around the outbreak of the pandemic in the Netherlands, that is, the period before widespread testing. The model development used 300,359 GP consultations. We developed a highly accurate model for COVID-19 consultations (accuracy 0.97, F1-score 0.90, precision 0.85, recall 0.85, specificity 0.99). External validations showed comparable high performance. Validation on PCR test data showed high recall but low precision and specificity. Validation using hospital data showed significant correlation between COVID-19 predictions of the model and COVID-19-related hospitalizations (F1-score 96.8; P<.001; R2=0.69). Most importantly, the model was able to predict COVID-19 cases weeks before the first confirmed case in the Netherlands. The developed BERT model was able to accurately identify COVID-19 cases among GP consultations even preceding confirmed cases. The validated efficacy of our BERT model highlights the potential of NLP models to identify disease outbreaks early, exemplifying the power of multidisciplinary efforts in harnessing technology for disease identification. Moreover, the implications of this study extend beyond COVID-19 and offer a blueprint for the early recognition of various illnesses, revealing that such models could revolutionize disease surveillance.

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