We investigate the prominent class of fair representation learning methods for bias mitigation. Using causal reasoning to define and formalise different sources of dataset bias, we reveal important implicit assumptions inherent to these methods. We prove fundamental limitations on fair representation learning when evaluation data is drawn from the same distribution as training data and run experiments across a range of medical modalities to examine the performance of fair representation learning under distribution shifts. Our results explain apparent contradictions in the existing literature and reveal how rarely considered causal and statistical aspects of the underlying data affect the validity of fair representation learning. We raise doubts about current evaluation practices and the applicability of fair representation learning methods in performance-sensitive settings. We argue that fine-grained analysis of dataset biases should play a key role in the field moving forward.

Contrastive pretraining can substantially increase model generalisation and downstream performance. However, the quality of the learned representations is highly dependent on the data augmentation strategy applied to generate positive pairs. Positive contrastive pairs should preserve semantic meaning while discarding unwanted variations related to the data acquisition domain. Traditional contrastive pipelines attempt to simulate domain shifts through pre-defined generic image transformations. However, these do not always mimic realistic and relevant domain variations for medical imaging, such as scanner differences. To tackle this issue, we herein introduce counterfactual contrastive learning, a novel framework leveraging recent advances in causal image synthesis to create contrastive positive pairs that faithfully capture relevant domain variations. Our method, evaluated across five datasets encompassing both chest radiography and mammography data, for two established contrastive objectives (SimCLR and DINO-v2), outperforms standard contrastive learning in terms of robustness to acquisition shift. Notably, counterfactual contrastive learning achieves superior downstream performance on both in-distribution and external datasets, especially for images acquired with scanners under-represented in the training set. Further experiments show that the proposed framework extends beyond acquisition shifts, with models trained with counterfactual contrastive learning reducing subgroup disparities across biological sex.