Alice Bernasconi

Alice Bernasconi, Alessio Zanga, Peter J. F. Lucas et al.

Over the last decades, many prognostic models based on artificial intelligence techniques have been used to provide detailed predictions in healthcare. Unfortunately, the real-world observational data used to train and validate these models are almost always affected by biases that can strongly impact the outcomes validity: two examples are values missing not-at-random and selection bias. Addressing them is a key element in achieving transportability and in studying the causal relationships that are critical in clinical decision making, going beyond simpler statistical approaches based on probabilistic association. In this context, we propose a novel approach that combines selection diagrams, missingness graphs, causal discovery and prior knowledge into a single graphical model to estimate the cardiovascular risk of adolescent and young females who survived breast cancer. We learn this model from data comprising two different cohorts of patients. The resulting causal network model is validated by expert clinicians in terms of risk assessment, accuracy and explainability, and provides a prognostic model that outperforms competing machine learning methods.

Alessio Zanga, Alice Bernasconi, Peter J. F. Lucas et al.

Causal inference for testing clinical hypotheses from observational data presents many difficulties because the underlying data-generating model and the associated causal graph are not usually available. Furthermore, observational data may contain missing values, which impact the recovery of the causal graph by causal discovery algorithms: a crucial issue often ignored in clinical studies. In this work, we use data from a multi-centric study on endometrial cancer to analyze the impact of different missingness mechanisms on the recovered causal graph. This is achieved by extending state-of-the-art causal discovery algorithms to exploit expert knowledge without sacrificing theoretical soundness. We validate the recovered graph with expert physicians, showing that our approach finds clinically-relevant solutions. Finally, we discuss the goodness of fit of our graph and its consistency from a clinical decision-making perspective using graphical separation to validate causal pathways.