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📄 Abstract
Abstract: Healthcare artificial intelligence systems routinely fail when deployed
across institutions, with documented performance drops and perpetuation of
discriminatory patterns embedded in historical data. This brittleness stems, in
part, from learning statistical associations rather than causal mechanisms.
Causal graph neural networks address this triple crisis of distribution shift,
discrimination, and inscrutability by combining graph-based representations of
biomedical data with causal inference principles to learn invariant mechanisms
rather than spurious correlations. This Review examines methodological
foundations spanning structural causal models, disentangled causal
representation learning, and techniques for interventional prediction and
counterfactual reasoning on graphs. We analyse applications demonstrating
clinical value across psychiatric diagnosis through brain network analysis,
cancer subtyping via multi-omics causal integration, continuous physiological
monitoring with mechanistic interpretation, and drug recommendation correcting
prescription bias. These advances establish foundations for patient-specific
Causal Digital Twins, enabling in silico clinical experimentation, with
integration of large language models for hypothesis generation and causal graph
neural networks for mechanistic validation. Substantial barriers remain,
including computational requirements precluding real-time deployment,
validation challenges demanding multi-modal evidence triangulation beyond
cross-validation, and risks of causal-washing where methods employ causal
terminology without rigorous evidentiary support. We propose tiered frameworks
distinguishing causally-inspired architectures from causally-validated
discoveries and identify critical research priorities making causal rather than
purely associational claims.
Key Contributions
This review examines Causal Graph Neural Networks (CGNNs) as a solution to critical issues in healthcare AI, including distribution shift, discrimination, and inscrutability. By combining graph representations with causal inference, CGNNs learn invariant mechanisms rather than spurious correlations, enabling more robust and fair predictions.
Business Value
Promises more reliable, fair, and interpretable AI systems in healthcare, leading to better diagnostics, treatment planning, and patient outcomes, while reducing risks associated with biased or brittle models.