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Relational machine learning for electronic health record-driven phenotyping.

ABSTRACT: Electronic health records (EHR) offer medical and pharmacogenomics research unprecedented opportunities to identify and classify patients at risk. EHRs are collections of highly inter-dependent records that include biological, anatomical, physiological, and behavioral observations. They comprise a patient's clinical phenome, where each patient has thousands of date-stamped records distributed across many relational tables. Development of EHR computer-based phenotyping algorithms require time and medical insight from clinical experts, who most often can only review a small patient subset representative of the total EHR records, to identify phenotype features. In this research we evaluate whether relational machine learning (ML) using inductive logic programming (ILP) can contribute to addressing these issues as a viable approach for EHR-based phenotyping.Two relational learning ILP approaches and three well-known WEKA (Waikato Environment for Knowledge Analysis) implementations of non-relational approaches (PART, J48, and JRIP) were used to develop models for nine phenotypes. International Classification of Diseases, Ninth Revision (ICD-9) coded EHR data were used to select training cohorts for the development of each phenotypic model. Accuracy, precision, recall, F-Measure, and Area Under the Receiver Operating Characteristic (AUROC) curve statistics were measured for each phenotypic model based on independent manually verified test cohorts. A two-sided binomial distribution test (sign test) compared the five ML approaches across phenotypes for statistical significance.We developed an approach to automatically label training examples using ICD-9 diagnosis codes for the ML approaches being evaluated. Nine phenotypic models for each ML approach were evaluated, resulting in better overall model performance in AUROC using ILP when compared to PART (p=0.039), J48 (p=0.003) and JRIP (p=0.003).ILP has the potential to improve phenotyping by independently delivering clinically expert interpretable rules for phenotype definitions, or intuitive phenotypes to assist experts.Relational learning using ILP offers a viable approach to EHR-driven phenotyping.

SUBMITTER: Peissig PL

PROVIDER: S-EPMC4261015 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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Relational machine learning for electronic health record-driven phenotyping.

Peissig Peggy L PL Santos Costa Vitor V Caldwell Michael D MD Rottscheit Carla C Berg Richard L RL Mendonca Eneida A EA Page David D

Journal of biomedical informatics 20140715

<h4>Objective</h4>Electronic health records (EHR) offer medical and pharmacogenomics research unprecedented opportunities to identify and classify patients at risk. EHRs are collections of highly inter-dependent records that include biological, anatomical, physiological, and behavioral observations. They comprise a patient's clinical phenome, where each patient has thousands of date-stamped records distributed across many relational tables. Development of EHR computer-based phenotyping algorithm ...[more]

PMID: 25048351

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Project description:Introduction:Electronic health record (EHR)-driven phenotyping is a critical first step in generating biomedical knowledge from EHR data. Despite recent progress, current phenotyping approaches are manual, time-consuming, error-prone, and platform-specific. This results in duplication of effort and highly variable results across systems and institutions, and is not scalable or portable. In this work, we investigate how the nascent Clinical Quality Language (CQL) can address these issues and enable high-throughput, cross-platform phenotyping. Methods:We selected a clinically validated heart failure (HF) phenotype definition and translated it into CQL, then developed a CQL execution engine to integrate with the Observational Health Data Sciences and Informatics (OHDSI) platform. We executed the phenotype definition at two large academic medical centers, Northwestern Medicine and Weill Cornell Medicine, and conducted results verification (n = 100) to determine precision and recall. We additionally executed the same phenotype definition against two different data platforms, OHDSI and Fast Healthcare Interoperability Resources (FHIR), using the same underlying dataset and compared the results. Results:CQL is expressive enough to represent the HF phenotype definition, including Boolean and aggregate operators, and temporal relationships between data elements. The language design also enabled the implementation of a custom execution engine with relative ease, and results verification at both sites revealed that precision and recall were both 100%. Cross-platform execution resulted in identical patient cohorts generated by both data platforms. Conclusions:CQL supports the representation of arbitrarily complex phenotype definitions, and our execution engine implementation demonstrated cross-platform execution against two widely used clinical data platforms. The language thus has the potential to help address current limitations with portability in EHR-driven phenotyping and scale in learning health systems.

Project description:BackgroundPoor functional status is a key marker of morbidity, yet is not routinely captured in clinical encounters. We developed and evaluated the accuracy of a machine learning algorithm that leveraged electronic health record (EHR) data to provide a scalable process for identification of functional impairment.MethodsWe identified a cohort of patients with an electronically captured screening measure of functional status (Older Americans Resources and Services ADL/IADL) between 2018 and 2020 (N = 6484). Patients were classified using unsupervised learning K means and t-distributed Stochastic Neighbor Embedding into normal function (NF), mild to moderate functional impairment (MFI), and severe functional impairment (SFI) states. Using 11 EHR clinical variable domains (832 variable input features), we trained an Extreme Gradient Boosting supervised machine learning algorithm to distinguish functional status states, and measured prediction accuracies. Data were randomly split into training (80%) and test (20%) sets. The SHapley Additive Explanations (SHAP) feature importance analysis was used to list the EHR features in rank order of their contribution to the outcome.ResultsMedian age was 75.3 years, 62% female, 60% White. Patients were classified as 53% NF (n = 3453), 30% MFI (n = 1947), and 17% SFI (n = 1084). Summary of model performance for identifying functional status state (NF, MFI, SFI) was AUROC (area under the receiving operating characteristic curve) 0.92, 0.89, and 0.87, respectively. Age, falls, hospitalization, home health use, labs (e.g., albumin), comorbidities (e.g., dementia, heart failure, chronic kidney disease, chronic pain), and social determinants of health (e.g., alcohol use) were highly ranked features in predicting functional status states.ConclusionA machine learning algorithm run on EHR clinical data has potential utility for differentiating functional status in the clinical setting. Through further validation and refinement, such algorithms can complement traditional screening methods and result in a population-based strategy for identifying patients with poor functional status who need additional health resources.

Project description:BACKGROUND:Stroke severity is an important predictor of patient outcomes and is commonly measured with the National Institutes of Health Stroke Scale (NIHSS) scores. Because these scores are often recorded as free text in physician reports, structured real-world evidence databases seldom include the severity. The aim of this study was to use machine learning models to impute NIHSS scores for all patients with newly diagnosed stroke from multi-institution electronic health record (EHR) data. METHODS:NIHSS scores available in the Optum© de-identified Integrated Claims-Clinical dataset were extracted from physician notes by applying natural language processing (NLP) methods. The cohort analyzed in the study consists of the 7149 patients with an inpatient or emergency room diagnosis of ischemic stroke, hemorrhagic stroke, or transient ischemic attack and a corresponding NLP-extracted NIHSS score. A subset of these patients (n?=?1033, 14%) were held out for independent validation of model performance and the remaining patients (n?=?6116, 86%) were used for training the model. Several machine learning models were evaluated, and parameters optimized using cross-validation on the training set. The model with optimal performance, a random forest model, was ultimately evaluated on the holdout set. RESULTS:Leveraging machine learning we identified the main factors in electronic health record data for assessing stroke severity, including death within the same month as stroke occurrence, length of hospital stay following stroke occurrence, aphagia/dysphagia diagnosis, hemiplegia diagnosis, and whether a patient was discharged to home or self-care. Comparing the imputed NIHSS scores to the NLP-extracted NIHSS scores on the holdout data set yielded an R2 (coefficient of determination) of 0.57, an R (Pearson correlation coefficient) of 0.76, and a root-mean-squared error of 4.5. CONCLUSIONS:Machine learning models built on EHR data can be used to determine proxies for stroke severity. This enables severity to be incorporated in studies of stroke patient outcomes using administrative and EHR databases.

Project description:BackgroundAccurate, pragmatic risk stratification for postoperative delirium (POD) is necessary to target preventative resources toward high-risk patients. Machine learning (ML) offers a novel approach to leveraging electronic health record (EHR) data for POD prediction. We sought to develop and internally validate a ML-derived POD risk prediction model using preoperative risk features, and to compare its performance to models developed with traditional logistic regression.MethodsThis was a retrospective analysis of preoperative EHR data from 24,885 adults undergoing a procedure requiring anesthesia care, recovering in the main post-anesthesia care unit, and staying in the hospital at least overnight between December 2016 and December 2019 at either of two hospitals in a tertiary care health system. One hundred fifteen preoperative risk features including demographics, comorbidities, nursing assessments, surgery type, and other preoperative EHR data were used to predict postoperative delirium (POD), defined as any instance of Nursing Delirium Screening Scale ≥2 or positive Confusion Assessment Method for the Intensive Care Unit within the first 7 postoperative days. Two ML models (Neural Network and XGBoost), two traditional logistic regression models ("clinician-guided" and "ML hybrid"), and a previously described delirium risk stratification tool (AWOL-S) were evaluated using the area under the receiver operating characteristic curve (AUC-ROC), sensitivity, specificity, positive likelihood ratio, and positive predictive value. Model calibration was assessed with a calibration curve. Patients with no POD assessments charted or at least 20% of input variables missing were excluded.ResultsPOD incidence was 5.3%. The AUC-ROC for Neural Net was 0.841 [95% CI 0. 816-0.863] and for XGBoost was 0.851 [95% CI 0.827-0.874], which was significantly better than the clinician-guided (AUC-ROC 0.763 [0.734-0.793], p < 0.001) and ML hybrid (AUC-ROC 0.824 [0.800-0.849], p < 0.001) regression models and AWOL-S (AUC-ROC 0.762 [95% CI 0.713-0.812], p < 0.001). Neural Net, XGBoost, and ML hybrid models demonstrated excellent calibration, while calibration of the clinician-guided and AWOL-S models was moderate; they tended to overestimate delirium risk in those already at highest risk.ConclusionUsing pragmatically collected EHR data, two ML models predicted POD in a broad perioperative population with high discrimination. Optimal application of the models would provide automated, real-time delirium risk stratification to improve perioperative management of surgical patients at risk for POD.

Project description:RationalePatients transferred from the intensive care unit to the wards who are later readmitted to the intensive care unit have increased length of stay, healthcare expenditure, and mortality compared with those who are never readmitted. Improving risk stratification for patients transferred to the wards could have important benefits for critically ill hospitalized patients.ObjectivesWe aimed to use a machine-learning technique to derive and validate an intensive care unit readmission prediction model with variables available in the electronic health record in real time and compare it to previously published algorithms.MethodsThis observational cohort study was conducted at an academic hospital in the United States with approximately 600 inpatient beds. A total of 24,885 intensive care unit transfers to the wards were included, with 14,962 transfers (60%) in the training cohort and 9,923 transfers (40%) in the internal validation cohort. Patient characteristics, nursing assessments, International Classification of Diseases, Ninth Revision codes from prior admissions, medications, intensive care unit interventions, diagnostic tests, vital signs, and laboratory results were extracted from the electronic health record and used as predictor variables in a gradient-boosted machine model. Accuracy for predicting intensive care unit readmission was compared with the Stability and Workload Index for Transfer score and Modified Early Warning Score in the internal validation cohort and also externally using the Medical Information Mart for Intensive Care database (n = 42,303 intensive care unit transfers).ResultsEleven percent (2,834) of discharges to the wards were later readmitted to the intensive care unit. The machine-learning-derived model had significantly better performance (area under the receiver operating curve, 0.76) than either the Stability and Workload Index for Transfer score (area under the receiver operating curve, 0.65), or Modified Early Warning Score (area under the receiver operating curve, 0.58; P value < 0.0001 for all comparisons). At a specificity of 95%, the derived model had a sensitivity of 28% compared with 15% for Stability and Workload Index for Transfer score and 7% for the Modified Early Warning Score. Accuracy improvements with the derived model over Modified Early Warning Score and Stability and Workload Index for Transfer were similar in the Medical Information Mart for Intensive Care-III cohort.ConclusionsA machine learning approach to predicting intensive care unit readmission was significantly more accurate than previously published algorithms in both our internal validation and the Medical Information Mart for Intensive Care-III cohort. Implementation of this approach could target patients who may benefit from additional time in the intensive care unit or more frequent monitoring after transfer to the hospital ward.

Project description:BackgroundDrug-induced long-QT syndrome (diLQTS) is a major concern among patients who are hospitalized, for whom prediction models capable of identifying individualized risk could be useful to guide monitoring. We have previously demonstrated the feasibility of machine learning to predict the risk of diLQTS, in which deep learning models provided superior accuracy for risk prediction, although these models were limited by a lack of interpretability.ObjectiveIn this investigation, we sought to examine the potential trade-off between interpretability and predictive accuracy with the use of more complex models to identify patients at risk for diLQTS. We planned to compare a deep learning algorithm to predict diLQTS with a more interpretable algorithm based on cluster analysis that would allow medication- and subpopulation-specific evaluation of risk.MethodsWe examined the risk of diLQTS among 35,639 inpatients treated between 2003 and 2018 with at least 1 of 39 medications associated with risk of diLQTS and who had an electrocardiogram in the system performed within 24 hours of medication administration. Predictors included over 22,000 diagnoses and medications at the time of medication administration, with cases of diLQTS defined as a corrected QT interval over 500 milliseconds after treatment with a culprit medication. The interpretable model was developed using cluster analysis (K=4 clusters), and risk was assessed for specific medications and classes of medications. The deep learning model was created using all predictors within a 6-layer neural network, based on previously identified hyperparameters.ResultsAmong the medications, we found that class III antiarrhythmic medications were associated with increased risk across all clusters, and that in patients who are noncritically ill without cardiovascular disease, propofol was associated with increased risk, whereas ondansetron was associated with decreased risk. Compared with deep learning, the interpretable approach was less accurate (area under the receiver operating characteristic curve: 0.65 vs 0.78), with comparable calibration.ConclusionsIn summary, we found that an interpretable modeling approach was less accurate, but more clinically applicable, than deep learning for the prediction of diLQTS. Future investigations should consider this trade-off in the development of methods for clinical prediction.

Project description:OBJECTIVES:The goal of this study was to use machine learning to more accurately predict survival after echocardiography. BACKGROUND:Predicting patient outcomes (e.g., survival) following echocardiography is primarily based on ejection fraction (EF) and comorbidities. However, there may be significant predictive information within additional echocardiography-derived measurements combined with clinical electronic health record data. METHODS:Mortality was studied in 171,510 unselected patients who underwent 331,317 echocardiograms in a large regional health system. The authors investigated the predictive performance of nonlinear machine learning models compared with that of linear logistic regression models using 3 different inputs: 1) clinical variables, including 90 cardiovascular-relevant International Classification of Diseases, Tenth Revision, codes, and age, sex, height, weight, heart rate, blood pressures, low-density lipoprotein, high-density lipoprotein, and smoking; 2) clinical variables plus physician-reported EF; and 3) clinical variables and EF, plus 57 additional echocardiographic measurements. Missing data were imputed with a multivariate imputation by using a chained equations algorithm (MICE). The authors compared models versus each other and baseline clinical scoring systems by using a mean area under the curve (AUC) over 10 cross-validation folds and across 10 survival durations (6 to 60 months). RESULTS:Machine learning models achieved significantly higher prediction accuracy (all AUC >0.82) over common clinical risk scores (AUC = 0.61 to 0.79), with the nonlinear random forest models outperforming logistic regression (p < 0.01). The random forest model including all echocardiographic measurements yielded the highest prediction accuracy (p < 0.01 across all models and survival durations). Only 10 variables were needed to achieve 96% of the maximum prediction accuracy, with 6 of these variables being derived from echocardiography. Tricuspid regurgitation velocity was more predictive of survival than LVEF. In a subset of studies with complete data for the top 10 variables, multivariate imputation by chained equations yielded slightly reduced predictive accuracies (difference in AUC of 0.003) compared with the original data. CONCLUSIONS:Machine learning can fully utilize large combinations of disparate input variables to predict survival after echocardiography with superior accuracy.

Project description:BACKGROUND:Accurate anesthesiology procedure code data are essential to quality improvement, research, and reimbursement tasks within anesthesiology practices. Advanced data science techniques, including machine learning and natural language processing, offer opportunities to develop classification tools for Current Procedural Terminology codes across anesthesia procedures. METHODS:Models were created using a Train/Test dataset including 1,164,343 procedures from 16 academic and private hospitals. Five supervised machine learning models were created to classify anesthesiology Current Procedural Terminology codes, with accuracy defined as first choice classification matching the institutional-assigned code existing in the perioperative database. The two best performing models were further refined and tested on a Holdout dataset from a single institution distinct from Train/Test. A tunable confidence parameter was created to identify cases for which models were highly accurate, with the goal of at least 95% accuracy, above the reported 2018 Centers for Medicare and Medicaid Services (Baltimore, Maryland) fee-for-service accuracy. Actual submitted claim data from billing specialists were used as a reference standard. RESULTS:Support vector machine and neural network label-embedding attentive models were the best performing models, respectively, demonstrating overall accuracies of 87.9% and 84.2% (single best code), and 96.8% and 94.0% (within top three). Classification accuracy was 96.4% in 47.0% of cases using support vector machine and 94.4% in 62.2% of cases using label-embedding attentive model within the Train/Test dataset. In the Holdout dataset, respective classification accuracies were 93.1% in 58.0% of cases and 95.0% among 62.0%. The most important feature in model training was procedure text. CONCLUSIONS:Through application of machine learning and natural language processing techniques, highly accurate real-time models were created for anesthesiology Current Procedural Terminology code classification. The increased processing speed and a priori targeted accuracy of this classification approach may provide performance optimization and cost reduction for quality improvement, research, and reimbursement tasks reliant on anesthesiology procedure codes.

Dataset Information

Relational machine learning for electronic health record-driven phenotyping.

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Relational machine learning for electronic health record-driven phenotyping.

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