Encoder-based transformer models are central to biomedical and clinical Natural Language Processing (NLP), as their bidirectional self-attention makes them well-suited for efficiently extracting structured information from unstructured text through discriminative tasks. However, encoders have seen slower development compared to decoder models, leading to limited domain adaptation in biomedical and clinical settings. We introduce BioClinical ModernBERT, a domain-adapted encoder that builds on the recent ModernBERT release, incorporating long-context processing and substantial improvements in speed and performance for biomedical and clinical NLP. BioClinical ModernBERT is developed through continued pretraining on the largest biomedical and clinical corpus to date, with over 53.5 billion tokens, and addresses a key limitation of prior clinical encoders by leveraging 20 datasets from diverse institutions, domains, and geographic regions, rather than relying on data from a single source. It outperforms existing biomedical and clinical encoders on four downstream tasks spanning a broad range of use cases. We release both base (150M parameters) and large (396M parameters) versions of BioClinical ModernBERT, along with training checkpoints to support further research.

Keywords: Trajectory prediction, Transformers, Knowledge integration, Deep learning Abstract: Predicting disease trajectories from electronic health records (EHRs) is a complex task due to major challenges such as data non-stationarity, high granularity of medical codes, and integration of multimodal data. EHRs contain both structured data, such as diagnostic codes, and unstructured data, such as clinical notes, which hold essential information often overlooked. Current models, primarily based on structured data, struggle to capture the complete medical context of patients, resulting in a loss of valuable information. To address this issue, we propose an approach that integrates unstructured clinical notes into transformer-based deep learning models for sequential disease prediction. Experiments on MIMIC-IV datasets demonstrate that the proposed approach outperforms traditional models relying solely on structured data. 1 INTRODUCTION In healthcare, the exponential growth of Electronic Health Records (EHRs) has revolutionized patient care while posing new challenges. Healthcare professionals now frequently interact with medical records spanning several decades, having to process and analyze this vast amount of information to make informed decisions about patients' future health status. This evolution has accelerated the development of automated systems to predict future diagnoses from past medical data, thus becoming a key element of personalized and proactive medicine (Figure 1). Machine learning techniques, particularly deep learning, have seen increasing growth in medicine (Egger et al., 2022), thanks to their adaptability and good results.

Knowledge graphs (KGs) serve as powerful tools for organizing and representing structured knowledge. While their utility is widely recognized, challenges persist in their automation and completeness. Despite efforts in automation and the utilization of expert-created ontologies, gaps in connectivity remain prevalent within KGs. In response to these challenges, we propose an innovative approach termed ``Medical Knowledge Graph Automation (M-KGA)". M-KGA leverages user-provided medical concepts and enriches them semantically using BioPortal ontologies, thereby enhancing the completeness of knowledge graphs through the integration of pre-trained embeddings. Our approach introduces two distinct methodologies for uncovering hidden connections within the knowledge graph: a cluster-based approach and a node-based approach. Through rigorous testing involving 100 frequently occurring medical concepts in Electronic Health Records (EHRs), our M-KGA framework demonstrates promising results, indicating its potential to address the limitations of existing knowledge graph automation techniques.

Diabetic eye disease is a major cause of blindness worldwide. The ability to monitor relevant clinical trajectories and detect lapses in care is critical to managing the disease and preventing blindness. Alas, much of the information necessary to support these goals is found only in the free text of the electronic medical record. To fill this information gap, we introduce a system for extracting evidence from clinical text of 19 clinical concepts related to diabetic eye disease and inferring relevant attributes for each. In developing this ophthalmology phenotyping system, we are also afforded a unique opportunity to evaluate the effectiveness of clinical language models at adapting to new clinical domains. Across multiple training paradigms, we find that BERT language models pretrained on out-of-distribution clinical data offer no significant improvement over BERT language models pretrained on non-clinical data for our domain. Our study tempers recent claims that language models pretrained on clinical data are necessary for clinical NLP tasks and highlights the importance of not treating clinical language data as a single homogeneous domain.

Deep-learning-based clinical decision support using structured electronic health records (EHR) has been an active research area for predicting risks of mortality and diseases. Meanwhile, large amounts of narrative clinical notes provide complementary information, but are often not integrated into predictive models. In this paper, we provide a novel multimodal transformer to fuse clinical notes and structured EHR data for better prediction of in-hospital mortality. To improve interpretability, we propose an integrated gradients (IG) method to select important words in clinical notes and discover the critical structured EHR features with Shapley values. These important words and clinical features are visualized to assist with interpretation of the prediction outcomes. We also investigate the significance of domain adaptive pretraining and task adaptive fine-tuning on the Clinical BERT, which is used to learn the representations of clinical notes. Experiments demonstrated that our model outperforms other methods (AUCPR: 0.538, AUCROC: 0.877, F1:0.490).

Understanding deep learning model behavior is critical to accepting machine learning-based decision support systems in the medical community. Previous research has shown that jointly using clinical notes with electronic health record (EHR) data improved predictive performance for patient monitoring in the intensive care unit (ICU). In this work, we explore the underlying reasons for these improvements. While relying on a basic attention-based model to allow for interpretability, we first confirm that performance significantly improves over state-of-the-art EHR data models when combining EHR data and clinical notes. We then provide an analysis showing improvements arise almost exclusively from a subset of notes containing broader context on patient state rather than clinician notes. We believe such findings highlight deep learning models for EHR data to be more limited by partially-descriptive data than by modeling choice, motivating a more data-centric approach in the field.

Medical systems in general, and patient treatment decisions and outcomes in particular, are affected by bias based on gender and other demographic elements. As language models are increasingly applied to medicine, there is a growing interest in building algorithmic fairness into processes impacting patient care. Much of the work addressing this question has focused on biases encoded in language models -- statistical estimates of the relationships between concepts derived from distant reading of corpora. Building on this work, we investigate how word choices made by healthcare practitioners and language models interact with regards to bias. We identify and remove gendered language from two clinical-note datasets and describe a new debiasing procedure using BERT-based gender classifiers. We show minimal degradation in health condition classification tasks for low- to medium-levels of bias removal via data augmentation. Finally, we compare the bias semantically encoded in the language models with the bias empirically observed in health records. This work outlines an interpretable approach for using data augmentation to identify and reduce the potential for bias in natural language processing pipelines.