No abstract

The increasing availability of electronic health data presents a major opportunity in healthcare for both discovery and practical applications to improve healthcare. However, for healthcare epidemiologists to best use these data, computational techniques that can handle large complex datasets are required. Machine learning (ML), the study of tools and methods for identifying patterns in data, can help. The appropriate application of ML to these data promises to transform patient risk stratification broadly in the field of medicine and especially in infectious diseases. This, in turn, could lead to targeted interventions that reduce the spread of healthcare-associated pathogens. In this review, we begin with an introduction to the basics of ML. We then move on to discuss how ML can transform healthcare epidemiology, providing examples of successful applications. Finally, we present special considerations for those healthcare epidemiologists who want to use and apply ML.

Machine learning (ML) modeling of the human microbiome has the potential to identify microbial biomarkers and aid in the diagnosis of many diseases such as inflammatory bowel disease, diabetes, and colorectal cancer. Progress has been made toward developing ML models that predict health outcomes using bacterial abundances, but inconsistent adoption of training and evaluation methods call the validity of these models into question. Furthermore, there appears to be a preference by many researchers to favor increased model complexity over interpretability. To overcome these challenges, we trained seven models that used fecal 16S rRNA sequence data to predict the presence of colonic screen relevant neoplasias (SRNs) (n = 490 patients, 261 controls and 229 cases). We developed a reusable open-source pipeline to train, validate, and interpret ML models. To show the effect of model selection, we assessed the predictive performance, interpretability, and training time of L2-regularized logistic regression, L1- and L2-regularized support vector machines (SVM) with linear and radial basis function kernels, a decision tree, random forest, and gradient boosted trees (XGBoost). The random forest model performed best at detecting SRNs with an area under the receiver operating characteristic curve (AUROC) of 0.695 (interquartile range [IQR], 0.651 to 0.739) but was slow to train (83.2 h) and not inherently interpretable. Despite its simplicity, L2-regularized logistic regression followed random forest in predictive performance with an AUROC of 0.680 (IQR, 0.625 to 0.735), trained faster (12 min), and was inherently interpretable. Our analysis highlights the importance of choosing an ML approach based on the goal of the study, as the choice will inform expectations of performance and interpretability. IMPORTANCE Diagnosing diseases using machine learning (ML) is rapidly being adopted in microbiome studies. However, the estimated performance associated with these models is likely overoptimistic. Moreover, there is a trend toward using black box models without a discussion of the difficulty of interpreting such models when trying to identify microbial biomarkers of disease. This work represents a step toward developing more-reproducible ML practices in applying ML to microbiome research. We implement a rigorous pipeline and emphasize the importance of selecting ML models that reflect the goal of the study. These concepts are not particular to the study of human health but can also be applied to environmental microbiology studies.

Background Existing prediction models for acute respiratory distress syndrome (ARDS) require manual chart abstraction and have only fair performance–limiting their suitability for driving clinical interventions. We sought to develop a machine learning approach for the prediction of ARDS that (a) leverages electronic health record (EHR) data, (b) is fully automated, and (c) can be applied at clinically relevant time points throughout a patient’s stay. Methods and Findings We trained a risk stratification model for ARDS using a cohort of 1,621 patients with moderate hypoxia from a single center in 2016, of which 51 patients developed ARDS. We tested the model in a temporally distinct cohort of 1,122 patients from 2017, of which 27 patients developed ARDS. Gold standard diagnosis of ARDS was made by intensive care trained physicians during retrospective chart review. We considered both linear and non-linear approaches to learning the model. The best model used L2-logistic regression with 984 features extracted from the EHR. For patients observed in the hospital at least six hours who then developed moderate hypoxia, the model achieved an area under the receiver operating characteristics curve (AUROC) of 0.81 (95% CI: 0.73–0.88). Selecting a threshold based on the 85 th percentile of risk, the model had a sensitivity of 56% (95% CI: 35%, 74%), specificity of 86% (95% CI: 85%, 87%) and positive predictive value of 9% (95% CI: 5%, 14%), identifying a population at four times higher risk for ARDS than other patients with moderate hypoxia and 17 times the risk of hospitalized adults. Conclusions We developed an ARDS prediction model based on EHR data with good discriminative performance. Our results demonstrate the feasibility of a machine learning approach to risk stratifying patients for ARDS solely from data extracted automatically from the EHR.