Columbia University Irving Medical Center
Abstract:Foundation models hold significant promise in healthcare, given their capacity to extract meaningful representations independent of downstream tasks. This property has enabled state-of-the-art performance across several clinical applications trained on structured electronic health record (EHR) data, even in settings with limited labeled data, a prevalent challenge in healthcare. However, there is little consensus on these models' potential for clinical utility due to the lack of desiderata of comprehensive and meaningful tasks and sufficiently diverse evaluations to characterize the benefit over conventional supervised learning. To address this gap, we propose a suite of clinically meaningful tasks spanning patient outcomes, early prediction of acute and chronic conditions, including desiderata for robust evaluations. We evaluate state-of-the-art foundation models on EHR data consisting of 5 million patients from Columbia University Irving Medical Center (CUMC), a large urban academic medical center in New York City, across 14 clinically relevant tasks. We measure overall accuracy, calibration, and subpopulation performance to surface tradeoffs based on the choice of pre-training, tokenization, and data representation strategies. Our study aims to advance the empirical evaluation of structured EHR foundation models and guide the development of future healthcare foundation models.
Abstract:Synthetic Electronic Health Records (EHR) have emerged as a pivotal tool in advancing healthcare applications and machine learning models, particularly for researchers without direct access to healthcare data. Although existing methods, like rule-based approaches and generative adversarial networks (GANs), generate synthetic data that resembles real-world EHR data, these methods often use a tabular format, disregarding temporal dependencies in patient histories and limiting data replication. Recently, there has been a growing interest in leveraging Generative Pre-trained Transformers (GPT) for EHR data. This enables applications like disease progression analysis, population estimation, counterfactual reasoning, and synthetic data generation. In this work, we focus on synthetic data generation and demonstrate the capability of training a GPT model using a particular patient representation derived from CEHR-BERT, enabling us to generate patient sequences that can be seamlessly converted to the Observational Medical Outcomes Partnership (OMOP) data format.
Abstract:Embedding algorithms are increasingly used to represent clinical concepts in healthcare for improving machine learning tasks such as clinical phenotyping and disease prediction. Recent studies have adapted state-of-the-art bidirectional encoder representations from transformers (BERT) architecture to structured electronic health records (EHR) data for the generation of contextualized concept embeddings, yet do not fully incorporate temporal data across multiple clinical domains. Therefore we developed a new BERT adaptation, CEHR-BERT, to incorporate temporal information using a hybrid approach by augmenting the input to BERT using artificial time tokens, incorporating time, age, and concept embeddings, and introducing a new second learning objective for visit type. CEHR-BERT was trained on a subset of Columbia University Irving Medical Center-York Presbyterian Hospital's clinical data, which includes 2.4M patients, spanning over three decades, and tested using 4-fold cross-validation on the following prediction tasks: hospitalization, death, new heart failure (HF) diagnosis, and HF readmission. Our experiments show that CEHR-BERT outperformed existing state-of-the-art clinical BERT adaptations and baseline models across all 4 prediction tasks in both ROC-AUC and PR-AUC. CEHR-BERT also demonstrated strong transfer learning capability, as our model trained on only 5% of data outperformed comparison models trained on the entire data set. Ablation studies to better understand the contribution of each time component showed incremental gains with every element, suggesting that CEHR-BERT's incorporation of artificial time tokens, time and age embeddings with concept embeddings, and the addition of the second learning objective represents a promising approach for future BERT-based clinical embeddings.