Learning Representations from Incomplete EHR Data with Dual-Masked Autoencoding

Machine learning holds great promise for advancing the field of medicine, with electronic health records (EHRs) serving as a primary data source. However, EHRs are often sparse and contain missing data due to various challenges and limitations in data collection and sharing between healthcare providers. Existing techniques for imputing missing values predominantly focus on known unknowns, such as missing or unavailable values of lab test results; most do not explicitly address situations where it is difficult to distinguish what is missing. For instance, a missing diagnosis code in an EHR could signify either that the patient has not been diagnosed with the condition or that a diagnosis was made, but not shared by a provider. Such situations fall into the paradigm of unknown unknowns. To address this challenge, we develop a general purpose algorithm for denoising data to recover unknown missing values in binary EHRs. We design a transformer-based denoising neural network where the output is thresholded adaptively to recover values in cases where we predict data are missing. Our results demonstrate improved accuracy in denoising medical codes within a real EHR dataset compared to existing imputation approaches and leads to increased performance on downstream tasks using the denoised data. In particular, when applying our method to a real world application, predicting hospital readmission from EHRs, our method achieves statistically significant improvement over all existing baselines.

Masked language modelling (MLM) is the dominant pretraining objective for transformer encoders applied to longitudinal electronic health records (EHRs). However, reconstructing individual events may overemphasise noisy or weakly informative observations and does not explicitly encourage learning higher-level patient states. Joint-Embedding Predictive Architectures (JEPAs) instead learn by predicting representations in latent space and have shown strong performance in a variety of domains. In this paper, we investigate to what extent JEPA can be adapted to EHR sequence representation. Our empirical investigation using MIMIC-IV shows that although all three of our JEPA formulations train stably without representational collapse, they consistently underperform standard MLM. We find that target size, not target heterogeneity, increases prediction error, yet reducing the target size does not recover downstream performance. This suggests that stable latent prediction alone is insufficient for competitive EHR representation learning and highlights the challenge of defining clinically meaningful latent targets for EHR.

Clinical diagnosis often requires combining imaging with physiological measurements, yet deployed models typically operate on unimodal data. We present PaCX-MAE, a cross-modal distillation framework that injects physiological priors into chest X-ray (CXR) encoders while remaining strictly unimodal at inference. PaCX-MAE augments in-domain masked autoencoding with a dual contrastive-predictive objective, aligning CXR representations with paired ECG and laboratory embeddings. Extensive evaluation across nine benchmarks demonstrates consistent improvements over domain-specific MAE, particularly on physiology-dependent tasks (e.g., +2.7 AUROC on MedMod; +6.5 F1 on VinDr). The method proves highly label-efficient in the 1% regime and preserves anatomical fidelity, achieving parity with MAE on segmentation tasks. Zero-shot and attention analyses confirm that PaCX-MAE successfully learns to attend to physiological indicators, such as the cardiac silhouette, absent in standard visual pretraining.