A Risk Prediction and Clinical Guidance System for Evaluating Patients with Recurrent Infections

BackgroundPrimary immunodeficiency diseases represent an expanding set of heterogeneous conditions which are difficult to recognize clinically. Diagnostic rates outside of the newborn period have not changed appreciably. This concern underscores a need for novel methods of disease detection.ObjectiveWe built an artificial intelligence model to provide real-time risk assessment about primary immunodeficiency and to facilitate prescriptive analytics for initiating the most appropriate diagnostic work up. Our goal is to improve diagnostic rates for primary immunodeficiency and shorten time to diagnosis.MethodsWe extracted data from the Texas Children’s Hospital electronic health record on a large population of primary immunodeficiency patients (n = 1762) and age-matched set of controls (n = 1698). From the cohorts, clinically relevant prior probabilities were calculated enabling construction of a Bayesian network probabilistic model. Our model was constructed with clinical-immunology domain expertise, trained on a balanced cohort of 100 cases-controls and validated on an unseen balanced cohort of 150 cases-controls. Performance was measured by area under the receiver operator characteristic curve (AUROC).ResultsOur Bayesian network was accurate in classifying immunodeficiency patients from controls (AUROC = 0.945; pConclusionArtificial intelligence methods can classify risk for primary immunodeficiency and guide management. Our Bayesian network enables highly accurate, objective decision making about risk and guides the user towards the appropriate diagnostic evaluation for patients with recurrent infections.