Medical-informed machine learning: integrating prior knowledge into medical decision systems

Abstract

Abstract Background Clinical medicine offers a promising arena for applying Machine Learning (ML) models. However, despite numerous studies employing ML in medical data analysis, only a fraction have impacted clinical care. This article underscores the importance of utilising ML in medical data analysis, recognising that ML alone may not adequately capture the full complexity of clinical data, thereby advocating for the integration of medical domain knowledge in ML. Methods The study conducts a comprehensive review of prior efforts in integrating medical knowledge into ML and maps these integration strategies onto the phases of the ML pipeline, encompassing data pre-processing, feature engineering, model training, and output evaluation. The study further explores the significance and impact of such integration through a case study on diabetes prediction. Here, clinical knowledge, encompassing rules, causal networks, intervals, and formulas, is integrated at each stage of the ML pipeline, resulting in a spectrum of integrated models. Results The findings highlight the benefits of integration in terms of accuracy, interpretability, data efficiency, and adherence to clinical guidelines. In several cases, integrated models outperformed purely data-driven approaches, underscoring the potential for domain knowledge to enhance ML models through improved generalisation. In other cases, the integration was instrumental in enhancing model interpretability and ensuring conformity with established clinical guidelines. Notably, knowledge integration also proved effective in maintaining performance under limited data scenarios. Conclusions By illustrating various integration strategies through a clinical case study, this work provides guidance to inspire and facilitate future integration efforts. Furthermore, the study identifies the need to refine domain knowledge representation and fine-tune its contribution to the ML model as the two main challenges to integration and aims to stimulate further research in this direction.