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Deep representation learning of electronic health records to unlock patient stratification at scale.

ABSTRACT: Deriving disease subtypes from electronic health records (EHRs) can guide next-generation personalized medicine. However, challenges in summarizing and representing patient data prevent widespread practice of scalable EHR-based stratification analysis. Here we present an unsupervised framework based on deep learning to process heterogeneous EHRs and derive patient representations that can efficiently and effectively enable patient stratification at scale. We considered EHRs of 1,608,741 patients from a diverse hospital cohort comprising a total of 57,464 clinical concepts. We introduce a representation learning model based on word embeddings, convolutional neural networks, and autoencoders (i.e., ConvAE) to transform patient trajectories into low-dimensional latent vectors. We evaluated these representations as broadly enabling patient stratification by applying hierarchical clustering to different multi-disease and disease-specific patient cohorts. ConvAE significantly outperformed several baselines in a clustering task to identify patients with different complex conditions, with 2.61 entropy and 0.31 purity average scores. When applied to stratify patients within a certain condition, ConvAE led to various clinically relevant subtypes for different disorders, including type 2 diabetes, Parkinson's disease, and Alzheimer's disease, largely related to comorbidities, disease progression, and symptom severity. With these results, we demonstrate that ConvAE can generate patient representations that lead to clinically meaningful insights. This scalable framework can help better understand varying etiologies in heterogeneous sub-populations and unlock patterns for EHR-based research in the realm of personalized medicine.

SUBMITTER: Landi I

PROVIDER: S-EPMC7367859 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Deep representation learning of electronic health records to unlock patient stratification at scale.

Landi Isotta I Glicksberg Benjamin S BS Lee Hao-Chih HC Cherng Sarah S Landi Giulia G Danieletto Matteo M Dudley Joel T JT Furlanello Cesare C Miotto Riccardo R

NPJ digital medicine 20200717

Deriving disease subtypes from electronic health records (EHRs) can guide next-generation personalized medicine. However, challenges in summarizing and representing patient data prevent widespread practice of scalable EHR-based stratification analysis. Here we present an unsupervised framework based on deep learning to process heterogeneous EHRs and derive patient representations that can efficiently and effectively enable patient stratification at scale. We considered EHRs of 1,608,741 patients ...[more]

PMID: 32699826

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Project description:BackgroundThe main goal of this study is to explore the use of features representing patient-level electronic health record (EHR) data, generated by the unsupervised deep learning algorithm autoencoder, in predictive modeling. Since autoencoder features are unsupervised, this paper focuses on their general lower-dimensional representation of EHR information in a wide variety of predictive tasks.MethodsWe compare the model with autoencoder features to traditional models: logistic model with least absolute shrinkage and selection operator (LASSO) and Random Forest algorithm. In addition, we include a predictive model using a small subset of response-specific variables (Simple Reg) and a model combining these variables with features from autoencoder (Enhanced Reg). We performed the study first on simulated data that mimics real world EHR data and then on actual EHR data from eight Advocate hospitals.ResultsOn simulated data with incorrect categories and missing data, the precision for autoencoder is 24.16% when fixing recall at 0.7, which is higher than Random Forest (23.61%) and lower than LASSO (25.32%). The precision is 20.92% in Simple Reg and improves to 24.89% in Enhanced Reg. When using real EHR data to predict the 30-day readmission rate, the precision of autoencoder is 19.04%, which again is higher than Random Forest (18.48%) and lower than LASSO (19.70%). The precisions for Simple Reg and Enhanced Reg are 18.70 and 19.69% respectively. That is, Enhanced Reg can have competitive prediction performance compared to LASSO. In addition, results show that Enhanced Reg usually relies on fewer features under the setting of simulations of this paper.ConclusionsWe conclude that autoencoder can create useful features representing the entire space of EHR data and which are applicable to a wide array of predictive tasks. Together with important response-specific predictors, we can derive efficient and robust predictive models with less labor in data extraction and model training.

Project description:BackgroundDeep learning models have attracted significant interest from health care researchers during the last few decades. There have been many studies that apply deep learning to medical applications and achieve promising results. However, there are three limitations to the existing models: (1) most clinicians are unable to interpret the results from the existing models, (2) existing models cannot incorporate complicated medical domain knowledge (eg, a disease causes another disease), and (3) most existing models lack visual exploration and interaction. Both the electronic health record (EHR) data set and the deep model results are complex and abstract, which impedes clinicians from exploring and communicating with the model directly.ObjectiveThe objective of this study is to develop an interpretable and accurate risk prediction model as well as an interactive clinical prediction system to support EHR data exploration, knowledge graph demonstration, and model interpretation.MethodsA domain-knowledge-guided recurrent neural network (DG-RNN) model is proposed to predict clinical risks. The model takes medical event sequences as input and incorporates medical domain knowledge by attending to a subgraph of the whole medical knowledge graph. A global pooling operation and a fully connected layer are used to output the clinical outcomes. The middle results and the parameters of the fully connected layer are helpful in identifying which medical events cause clinical risks. DG-Viz is also designed to support EHR data exploration, knowledge graph demonstration, and model interpretation.ResultsWe conducted both risk prediction experiments and a case study on a real-world data set. A total of 554 patients with heart failure and 1662 control patients without heart failure were selected from the data set. The experimental results show that the proposed DG-RNN outperforms the state-of-the-art approaches by approximately 1.5%. The case study demonstrates how our medical physician collaborator can effectively explore the data and interpret the prediction results using DG-Viz.ConclusionsIn this study, we present DG-Viz, an interactive clinical prediction system, which brings together the power of deep learning (ie, a DG-RNN-based model) and visual analytics to predict clinical risks and visually interpret the EHR prediction results. Experimental results and a case study on heart failure risk prediction tasks demonstrate the effectiveness and usefulness of the DG-Viz system. This study will pave the way for interactive, interpretable, and accurate clinical risk predictions.

Project description:BackgroundAccurate detection of bleeding events from electronic health records (EHRs) is crucial for identifying and characterizing different common and serious medical problems. To extract such information from EHRs, it is essential to identify the relations between bleeding events and related clinical entities (eg, bleeding anatomic sites and lab tests). With the advent of natural language processing (NLP) and deep learning (DL)-based techniques, many studies have focused on their applicability for various clinical applications. However, no prior work has utilized DL to extract relations between bleeding events and relevant entities.ObjectiveIn this study, we aimed to evaluate multiple DL systems on a novel EHR data set for bleeding event-related relation classification.MethodsWe first expert annotated a new data set of 1046 deidentified EHR notes for bleeding events and their attributes. On this data set, we evaluated three state-of-the-art DL architectures for the bleeding event relation classification task, namely, convolutional neural network (CNN), attention-guided graph convolutional network (AGGCN), and Bidirectional Encoder Representations from Transformers (BERT). We used three BERT-based models, namely, BERT pretrained on biomedical data (BioBERT), BioBERT pretrained on clinical text (Bio+Clinical BERT), and BioBERT pretrained on EHR notes (EhrBERT).ResultsOur experiments showed that the BERT-based models significantly outperformed the CNN and AGGCN models. Specifically, BioBERT achieved a macro F1 score of 0.842, outperforming both the AGGCN (macro F1 score, 0.828) and CNN models (macro F1 score, 0.763) by 1.4% (P<.001) and 7.9% (P<.001), respectively.ConclusionsIn this comprehensive study, we explored and compared different DL systems to classify relations between bleeding events and other medical concepts. On our corpus, BERT-based models outperformed other DL models for identifying the relations of bleeding-related entities. In addition to pretrained contextualized word representation, BERT-based models benefited from the use of target entity representation over traditional sequence representation.

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Deep representation learning of electronic health records to unlock patient stratification at scale.

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Deep representation learning of electronic health records to unlock patient stratification at scale.

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