A Hybrid AI and Rule-Based Decision Support System for Disease Diagnosis and Management Using Labs

This research paper outlines the development and implementation of a novel Clinical Decision Support System (CDSS) that integrates AI predictive modeling with medical knowledge bases. It utilizes the quantifiable information elements in lab results for inferring likely diagnoses a patient might have. Subsequently, suggesting investigations to confirm the likely diagnoses -- an assistive tool for physicians. The system fuses knowledge contained in a rule-base expert system with inferences of data driven predictors based on the features in labs. The data for 593,055 patients was collected from 547 primary care centers across the US to model our decision support system and derive Real-Word Evidence (RWE) to make it relevant for a large demographic of patients. Our Rule-Base comprises clinically validated rules, modeling 59 health conditions that can directly confirm one or more of diseases and assign ICD-10 codes to them. The Likely Diagnosis system uses multi-class classification, covering 37 ICD-10 codes, which are grouped together into 11 categories based on the labs that physicians prescribe to confirm the diagnosis. This research offers a novel system that assists a physician by utilizing medical profile of a patient and routine lab investigations to predict a group of likely diseases and then confirm them, coupled with providing explanations for inferences, thereby assisting physicians to reduce misdiagnosis of patients in clinical decision-making.

Leveraging Large Language Models and Survival Analysis for Early Prediction of Chemotherapy Outcomes

Chemotherapy for cancer treatment is costly and accompanied by severe side effects, highlighting the critical need for early prediction of treatment outcomes to improve patient management and informed decision-making. Predictive models for chemotherapy outcomes using real-world data face challenges, including the absence of explicit phenotypes and treatment outcome labels such as cancer progression and toxicity. This study addresses these challenges by employing Large Language Models (LLMs) and ontology-based techniques for phenotypes and outcome label extraction from patient notes. We focused on one of the most frequently occurring cancers, breast cancer, due to its high prevalence and significant variability in patient response to treatment, making it a critical area for improving predictive modeling. The dataset included features such as vitals, demographics, staging, biomarkers, and performance scales. Drug regimens and their combinations were extracted from the chemotherapy plans in the EMR data and shortlisted based on NCCN guidelines, verified with NIH standards, and analyzed through survival modeling. The proposed approach significantly reduced phenotypes sparsity and improved predictive accuracy. Random Survival Forest was used to predict time-to-failure, achieving a C-index of 73%, and utilized as a classifier at a specific time point to predict treatment outcomes, with accuracy and F1 scores above 70%. The outcome probabilities were validated for reliability by calibration curves. We extended our approach to four other cancer types. This research highlights the potential of early prediction of treatment outcomes using LLM-based clinical data extraction enabling personalized treatment plans with better patient outcomes.

Survival Meets Classification: A Novel Framework for Early Risk Prediction Models of Chronic Diseases

Chronic diseases are long-lasting conditions that require lifelong medical attention. Using big EMR data, we have developed early disease risk prediction models for five common chronic diseases: diabetes, hypertension, CKD, COPD, and chronic ischemic heart disease. In this study, we present a novel approach for disease risk models by integrating survival analysis with classification techniques. Traditional models for predicting the risk of chronic diseases predominantly focus on either survival analysis or classification independently. In this paper, we show survival analysis methods can be re-engineered to enable them to do classification efficiently and effectively, thereby making them a comprehensive tool for developing disease risk surveillance models. The results of our experiments on real-world big EMR data show that the performance of survival models in terms of accuracy, F1 score, and AUROC is comparable to or better than that of prior state-of-the-art models like LightGBM and XGBoost. Lastly, the proposed survival models use a novel methodology to generate explanations, which have been clinically validated by a panel of three expert physicians.

Boosted Random Forests for Predicting Treatment Failure of Chemotherapy Regimens

Cancer patients may undergo lengthy and painful chemotherapy treatments, comprising several successive regimens or plans. Treatment inefficacy and other adverse events can lead to discontinuation (or failure) of these plans, or prematurely changing them, which results in a significant amount of physical, financial, and emotional toxicity to the patients and their families. In this work, we build treatment failure models based on the Real World Evidence (RWE) gathered from patients' profiles available in our oncology EMR/EHR system. We also describe our feature engineering pipeline, experimental methods, and valuable insights obtained about treatment failures from trained models. We report our findings on five primary cancer types with the most frequent treatment failures (or discontinuations) to build unique and novel feature vectors from the clinical notes, diagnoses, and medications that are available in our oncology EMR. After following a novel three axes - performance, complexity and explainability - design exploration framework, boosted random forests are selected because they provide a baseline accuracy of 80% and an F1 score of 75%, with reduced model complexity, thus making them more interpretable to and usable by oncologists.

An Explainable Disease Surveillance System for Early Prediction of Multiple Chronic Diseases

This study addresses a critical gap in the healthcare system by developing a clinically meaningful, practical, and explainable disease surveillance system for multiple chronic diseases, utilizing routine EHR data from multiple U.S. practices integrated with CureMD's EMR/EHR system. Unlike traditional systems--using AI models that rely on features from patients' labs--our approach focuses on routinely available data, such as medical history, vitals, diagnoses, and medications, to preemptively assess the risks of chronic diseases in the next year. We trained three distinct models for each chronic disease: prediction models that forecast the risk of a disease 3, 6, and 12 months before a potential diagnosis. We developed Random Forest models, which were internally validated using F1 scores and AUROC as performance metrics and further evaluated by a panel of expert physicians for clinical relevance based on inferences grounded in medical knowledge. Additionally, we discuss our implementation of integrating these models into a practical EMR system. Beyond using Shapley attributes and surrogate models for explainability, we also introduce a new rule-engineering framework to enhance the intrinsic explainability of Random Forests.