Identify and mitigate bias in electronic phenotyping: A comprehensive study from computational perspective

Abstract

Electronic phenotyping is a fundamental task that identifies the special group of patients, which plays an important role in precision medicine in the era of digital health. Phenotyping provides real-world evidence for other related biomedical research and clinical tasks, e.g., disease diagnosis, drug development, and clinical trials, etc. With the development of electronic health records, the performance of electronic phenotyping has been significantly boosted by advanced machine learning techniques. In the healthcare domain, precision and fairness are both essential aspects that should be taken into consideration. However, most related efforts are put into designing phenotyping models with higher accuracy. Few attention is put on the fairness perspective of phenotyping. The neglection of bias in phenotyping leads to subgroups of patients being underrepresented which will further affect the following healthcare activities such as patient recruitment in clinical trials. In this work, we are motivated to bridge this gap through a comprehensive experimental study to identify the bias existing in electronic phenotyping models and evaluate the widely-used debiasing methods’ performance on these models. We choose pneumonia and sepsis as our phenotyping target diseases. We benchmark 9 kinds of electronic phenotyping methods spanning from rule-based to data-driven methods. Meanwhile, we evaluate the performance of the 5 bias mitigation strategies covering pre-processing, in-processing, and post-processing. Through the extensive experiments, we summarize several insightful findings from the bias identified in the phenotyping and key points of the bias mitigation strategies in phenotyping.