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Inferring multimodal latent topics from electronic health records.

ABSTRACT: Electronic health records (EHR) are rich heterogeneous collections of patient health information, whose broad adoption provides clinicians and researchers unprecedented opportunities for health informatics, disease-risk prediction, actionable clinical recommendations, and precision medicine. However, EHRs present several modeling challenges, including highly sparse data matrices, noisy irregular clinical notes, arbitrary biases in billing code assignment, diagnosis-driven lab tests, and heterogeneous data types. To address these challenges, we present MixEHR, a multi-view Bayesian topic model. We demonstrate MixEHR on MIMIC-III, Mayo Clinic Bipolar Disorder, and Quebec Congenital Heart Disease EHR datasets. Qualitatively, MixEHR disease topics reveal meaningful combinations of clinical features across heterogeneous data types. Quantitatively, we observe superior prediction accuracy of diagnostic codes and lab test imputations compared to the state-of-art methods. We leverage the inferred patient topic mixtures to classify target diseases and predict mortality of patients in critical conditions. In all comparison, MixEHR confers competitive performance and reveals meaningful disease-related topics.

SUBMITTER: Li Y

PROVIDER: S-EPMC7242436 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Inferring multimodal latent topics from electronic health records.

Li Yue Y Nair Pratheeksha P Lu Xing Han XH Wen Zhi Z Wang Yuening Y Dehaghi Amir Ardalan Kalantari AAK Miao Yan Y Liu Weiqi W Ordog Tamas T Biernacka Joanna M JM Ryu Euijung E Olson Janet E JE Frye Mark A MA Liu Aihua A Guo Liming L Marelli Ariane A Ahuja Yuri Y Davila-Velderrain Jose J Kellis Manolis M

Nature communications 20200521 1

Electronic health records (EHR) are rich heterogeneous collections of patient health information, whose broad adoption provides clinicians and researchers unprecedented opportunities for health informatics, disease-risk prediction, actionable clinical recommendations, and precision medicine. However, EHRs present several modeling challenges, including highly sparse data matrices, noisy irregular clinical notes, arbitrary biases in billing code assignment, diagnosis-driven lab tests, and heteroge ...[more]

PMID: 32439869

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Project description:BackgroundNowadays, patients with chronic diseases such as diabetes and hypertension have reached alarming numbers worldwide. These diseases increase the risk of developing acute complications and involve a substantial economic burden and demand for health resources. The widespread adoption of Electronic Health Records (EHRs) is opening great opportunities for supporting decision-making. Nevertheless, data extracted from EHRs are complex (heterogeneous, high-dimensional and usually noisy), hampering the knowledge extraction with conventional approaches.MethodsWe propose the use of the Denoising Autoencoder (DAE), a Machine Learning (ML) technique allowing to transform high-dimensional data into latent representations (LRs), thus addressing the main challenges with clinical data. We explore in this work how the combination of LRs with a visualization method can be used to map the patient data in a two-dimensional space, gaining knowledge about the distribution of patients with different chronic conditions. Furthermore, this representation can be also used to characterize the patient's health status evolution, which is of paramount importance in the clinical setting.ResultsTo obtain clinical LRs, we considered real-world data extracted from EHRs linked to the University Hospital of Fuenlabrada in Spain. Experimental results showed the great potential of DAEs to identify patients with clinical patterns linked to hypertension, diabetes and multimorbidity. The procedure allowed us to find patients with the same main chronic disease but different clinical characteristics. Thus, we identified two kinds of diabetic patients with differences in their drug therapy (insulin and non-insulin dependant), and also a group of women affected by hypertension and gestational diabetes. We also present a proof of concept for mapping the health status evolution of synthetic patients when considering the most significant diagnoses and drugs associated with chronic patients.ConclusionOur results highlighted the value of ML techniques to extract clinical knowledge, supporting the identification of patients with certain chronic conditions. Furthermore, the patient's health status progression on the two-dimensional space might be used as a tool for clinicians aiming to characterize health conditions and identify their more relevant clinical codes.

Project description:ObjectiveDiscovering subphenotypes of complex diseases can help characterize disease cohorts for investigative studies aimed at developing better diagnoses and treatments. Recent advances in unsupervised machine learning on electronic health record (EHR) data have enabled researchers to discover phenotypes without input from domain experts. However, most existing studies have ignored time and modeled diseases as discrete events. Uncovering the evolution of phenotypes - how they emerge, evolve and contribute to health outcomes - is essential to define more precise phenotypes and refine the understanding of disease progression. Our objective was to assess the benefits of an unsupervised approach that incorporates time to model diseases as dynamic processes in phenotype discovery.MethodsIn this study, we applied a constrained non-negative tensor-factorization approach to characterize the complexity of cardiovascular disease (CVD) patient cohort based on longitudinal EHR data. Through tensor-factorization, we identified a set of phenotypic topics (i.e., subphenotypes) that these patients established over the 10 years prior to the diagnosis of CVD, and showed the progress pattern. For each identified subphenotype, we examined its association with the risk for adverse cardiovascular outcomes estimated by the American College of Cardiology/American Heart Association Pooled Cohort Risk Equations, a conventional CVD-risk assessment tool frequently used in clinical practice. Furthermore, we compared the subsequent myocardial infarction (MI) rates among the six most prevalent subphenotypes using survival analysis.ResultsFrom a cohort of 12,380 adult CVD individuals with 1068 unique PheCodes, we successfully identified 14 subphenotypes. Through the association analysis with estimated CVD risk for each subtype, we found some phenotypic topics such as Vitamin D deficiency and depression, Urinary infections cannot be explained by the conventional risk factors. Through a survival analysis, we found markedly different risks of subsequent MI following the diagnosis of CVD among the six most prevalent topics (p < 0.0001), indicating these topics may capture clinically meaningful subphenotypes of CVD.ConclusionThis study demonstrates the potential benefits of using tensor-decomposition to model diseases as dynamic processes from longitudinal EHR data. Our results suggest that this data-driven approach may potentially help researchers identify complex and chronic disease subphenotypes in precision medicine research.

Project description:Machine learning has become ubiquitous and a key technology on mining electronic health records (EHRs) for facilitating clinical research and practice. Unsupervised machine learning, as opposed to supervised learning, has shown promise in identifying novel patterns and relations from EHRs without using human created labels. In this paper, we investigate the application of unsupervised machine learning models in discovering latent disease clusters and patient subgroups based on EHRs. We utilized Latent Dirichlet Allocation (LDA), a generative probabilistic model, and proposed a novel model named Poisson Dirichlet Model (PDM), which extends the LDA approach using a Poisson distribution to model patients' disease diagnoses and to alleviate age and sex factors by considering both observed and expected observations. In the empirical experiments, we evaluated LDA and PDM on three patient cohorts, namely Osteoporosis, Delirium/Dementia, and Chronic Obstructive Pulmonary Disease (COPD)/Bronchiectasis Cohorts, with their EHR data retrieved from the Rochester Epidemiology Project (REP) medical records linkage system, for the discovery of latent disease clusters and patient subgroups. We compared the effectiveness of LDA and PDM in identifying disease clusters through the visualization of disease representations. We tested the performance of LDA and PDM in differentiating patient subgroups through survival analysis, as well as statistical analysis of demographics and Elixhauser Comorbidity Index (ECI) scores in those subgroups. The experimental results show that the proposed PDM could effectively identify distinguished disease clusters based on the latent patterns hidden in the EHR data by alleviating the impact of age and sex, and that LDA could stratify patients into differentiable subgroups with larger p-values than PDM. However, those subgroups identified by LDA are highly associated with patients' age and sex. The subgroups discovered by PDM might imply the underlying patterns of diseases of greater interest in epidemiology research due to the alleviation of age and sex. Both unsupervised machine learning approaches could be leveraged to discover patient subgroups using EHRs but with different foci.

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Inferring multimodal latent topics from electronic health records.

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Inferring multimodal latent topics from electronic health records.

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