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1. Coronary Artery Disease Phenotype Detection in an Academic Hospital System Setting

   https://doi.org/10.1055/s-0040-1721012  

   Joseph, Amy ; Mullett, Charles ; Lilly, Christa ; Armistead, Matthew ; Cox, Harold J. ; Denney, Michael ; Varma, Misha ; Rich, David ; Adjeroh, Donald A. ; Doretto, Gianfranco ; et al ( January 2021 , Applied Clinical Informatics)

   null (Ed.)

   Abstract Background The United States, and especially West Virginia, have a tremendous burden of coronary artery disease (CAD). Undiagnosed familial hypercholesterolemia (FH) is an important factor for CAD in the U.S. Identification of a CAD phenotype is an initial step to find families with FH. Objective We hypothesized that a CAD phenotype detection algorithm that uses discrete data elements from electronic health records (EHRs) can be validated from EHR information housed in a data repository. Methods We developed an algorithm to detect a CAD phenotype which searched through discrete data elements, such as diagnosis, problem lists, medical history, billing, and procedure (International Classification of Diseases [ICD]-9/10 and Current Procedural Terminology [CPT]) codes. The algorithm was applied to two cohorts of 500 patients, each with varying characteristics. The second (younger) cohort consisted of parents from a school child screening program. We then determined which patients had CAD by systematic, blinded review of EHRs. Following this, we revised the algorithm by refining the acceptable diagnoses and procedures. We ran the second algorithm on the same cohorts and determined the accuracy of the modification. Results CAD phenotype Algorithm I was 89.6% accurate, 94.6% sensitive, and 85.6% specific for group 1. After revising the algorithm (denoted CAD Algorithm II) and applying it to the same groups 1 and 2, sensitivity 98.2%, specificity 87.8%, and accuracy 92.4; accuracy 93% for group 2. Group 1 F1 score was 92.4%. Specific ICD-10 and CPT codes such as “coronary angiography through a vein graft” were more useful than generic terms. Conclusion We have created an algorithm, CAD Algorithm II, that detects CAD on a large scale with high accuracy and sensitivity (recall). It has proven useful among varied patient populations. Use of this algorithm can extend to monitor a registry of patients in an EHR and/or to identify a group such as those with likely FH. 

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2. Detecting Social and Behavioral Determinants of Health with Structured and Free-Text Clinical Data

   https://doi.org/10.1055/s-0040-1702214  

   Feller, Daniel J. ; Bear Don't Walk IV, Oliver J. ; Zucker, Jason ; Yin, Michael T. ; Gordon, Peter ; Elhadad, Noémie ( January 2020 , Applied Clinical Informatics)

   Abstract Background Social and behavioral determinants of health (SBDH) are environmental and behavioral factors that often impede disease management and result in sexually transmitted infections. Despite their importance, SBDH are inconsistently documented in electronic health records (EHRs) and typically collected only in an unstructured format. Evidence suggests that structured data elements present in EHRs can contribute further to identify SBDH in the patient record. Objective Explore the automated inference of both the presence of SBDH documentation and individual SBDH risk factors in patient records. Compare the relative ability of clinical notes and structured EHR data, such as laboratory measurements and diagnoses, to support inference. Methods We attempt to infer the presence of SBDH documentation in patient records, as well as patient status of 11 SBDH, including alcohol abuse, homelessness, and sexual orientation. We compare classification performance when considering clinical notes only, structured data only, and notes and structured data together. We perform an error analysis across several SBDH risk factors. Results Classification models inferring the presence of SBDH documentation achieved good performance (F1 score: 92.7–78.7; F1 considered as the primary evaluation metric). Performance was variable for models inferring patient SBDH risk status; results ranged from F1 = 82.7 for LGBT (lesbian, gay, bisexual, and transgender) status to F1 = 28.5 for intravenous drug use. Error analysis demonstrated that lexical diversity and documentation of historical SBDH status challenge inference of patient SBDH status. Three of five classifiers inferring topic-specific SBDH documentation and 10 of 11 patient SBDH status classifiers achieved highest performance when trained using both clinical notes and structured data. Conclusion Our findings suggest that combining clinical free-text notes and structured data provide the best approach in classifying patient SBDH status. Inferring patient SBDH status is most challenging among SBDH with low prevalence and high lexical diversity. 

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3. Embedding electronic health records onto a knowledge network recognizes prodromal features of multiple sclerosis and predicts diagnosis

   https://doi.org/10.1093/jamia/ocab270  

   Nelson, Charlotte A ; Bove, Riley ; Butte, Atul J ; Baranzini, Sergio E ( December 2021 , Journal of the American Medical Informatics Association)

   Early identification of chronic diseases is a pillar of precision medicine as it can lead to improved outcomes, reduction of disease burden, and lower healthcare costs. Predictions of a patient’s health trajectory have been improved through the application of machine learning approaches to electronic health records (EHRs). However, these methods have traditionally relied on “black box” algorithms that can process large amounts of data but are unable to incorporate domain knowledge, thus limiting their predictive and explanatory power. Here, we present a method for incorporating domain knowledge into clinical classifications by embedding individual patient data into a biomedical knowledge graph.

   A modified version of the Page rank algorithm was implemented to embed millions of deidentified EHRs into a biomedical knowledge graph (SPOKE). This resulted in high-dimensional, knowledge-guided patient health signatures (ie, SPOKEsigs) that were subsequently used as features in a random forest environment to classify patients at risk of developing a chronic disease.

   Our model predicted disease status of 5752 subjects 3 years before being diagnosed with multiple sclerosis (MS) (AUC = 0.83). SPOKEsigs outperformed predictions using EHRs alone, and the biological drivers of the classifiers provided insight into the underpinnings of prodromal MS.

   Using data from EHR as input, SPOKEsigs describe patients at both the clinical and biological levels. We provide a clinical use case for detecting MS up to 5 years prior to their documented diagnosis in the clinic and illustrate the biological features that distinguish the prodromal MS state.

    

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4. Context-Aware Health Event Prediction via Transition Functions on Dynamic Disease Graphs

   Lu, Chang ; Han, Tian ; Ning, Yue ( June 2022 , Proceedings of the AAAI Conference on Artificial Intelligence)

   With the wide application of electronic health records (EHR) in healthcare facilities, health event prediction with deep learning has gained more and more attention. A common feature of EHR data used for deep-learning-based predictions is historical diagnoses. Existing work mainly regards a diagnosis as an independent disease and does not consider clinical relations among diseases in a visit. Many machine learning approaches assume disease representations are static in different visits of a patient. However, in real practice, multiple diseases that are frequently diagnosed at the same time reflect hidden patterns that are conducive to prognosis. Moreover, the development of a disease is not static since some diseases can emerge or disappear and show various symptoms in different visits of a patient. To effectively utilize this combinational disease information and explore the dynamics of diseases, we propose a novel context-aware learning framework using transition functions on dynamic disease graphs. Specifically, we construct a global disease co-occurrence graph with multiple node properties for disease combinations. We design dynamic subgraphs for each patient's visit to leverage global and local contexts. We further define three diagnosis roles in each visit based on the variation of node properties to model disease transition processes. Experimental results on two real-world EHR datasets show that the proposed model outperforms state of the art in predicting health events. 

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5. Novel Preoperative Risk Stratification Using Digital Phenotyping Applying a Scalable Machine-Learning Approach

   https://doi.org/10.1213/ANE.0000000000006753  

   Laferrière-Langlois, Pascal ; Imrie, Fergus ; Geraldo, Marc-Andre ; Wingert, Theodora ; Lahrichi, Nadia ; van der Schaar, Mihaela ; Cannesson, Maxime ( December 2023 , Anesthesia & Analgesia)

   Classification of perioperative risk is important for patient care, resource allocation, and guiding shared decision-making. Using discriminative features from the electronic health record (EHR), machine-learning algorithms can create digital phenotypes among heterogenous populations, representing distinct patient subpopulations grouped by shared characteristics, from which we can personalize care, anticipate clinical care trajectories, and explore therapies. We hypothesized that digital phenotypes in preoperative settings are associated with postoperative adverse events including in-hospital and 30-day mortality, 30-day surgical redo, intensive care unit (ICU) admission, and hospital length of stay (LOS).

   We identified all laminectomies, colectomies, and thoracic surgeries performed over a 9-year period from a large hospital system. Seventy-seven readily extractable preoperative features were first selected from clinical consensus, including demographics, medical history, and lab results. Three surgery-specific datasets were built and split into derivation and validation cohorts using chronological occurrence. Consensusk-means clustering was performed independently on each derivation cohort, from which phenotypes’ characteristics were explored. Cluster assignments were used to train a random forest model to assign patient phenotypes in validation cohorts. We reconducted descriptive analyses on validation cohorts to confirm the similarity of patient characteristics with derivation cohorts, and quantified the association of each phenotype with postoperative adverse events by using the area under receiver operating characteristic curve (AUROC). We compared our approach to American Society of Anesthesiologists (ASA) alone and investigated a combination of our phenotypes with the ASA score.

   A total of 7251 patients met inclusion criteria, of which 2770 were held out in a validation dataset based on chronological occurrence. Using segmentation metrics and clinical consensus, 3 distinct phenotypes were created for each surgery. The main features used for segmentation included urgency of the procedure, preoperative LOS, age, and comorbidities. The most relevant characteristics varied for each of the 3 surgeries. Low-risk phenotype alpha was the most common (2039 of 2770, 74%), while high-risk phenotype gamma was the rarest (302 of 2770, 11%). Adverse outcomes progressively increased from phenotypes alpha to gamma, including 30-day mortality (0.3%, 2.1%, and 6.0%, respectively), in-hospital mortality (0.2%, 2.3%, and 7.3%), and prolonged hospital LOS (3.4%, 22.1%, and 25.8%). When combined with the ASA score, digital phenotypes achieved higher AUROC than the ASA score alone (hospital mortality: 0.91 vs 0.84; prolonged hospitalization: 0.80 vs 0.71).

   For 3 frequently performed surgeries, we identified 3 digital phenotypes. The typical profiles of each phenotype were described and could be used to anticipate adverse postoperative events.

    

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