Vineet K. Raghu

Yanru Chen, Michael T Lu, Vineet K Raghu

Deep learning is the state-of-the-art for medical imaging tasks, but requires large, labeled datasets. For risk prediction, large datasets are rare since they require both imaging and follow-up (e.g., diagnosis codes). However, the release of publicly available imaging data with diagnostic labels presents an opportunity for self and semi-supervised approaches to improve label efficiency for risk prediction. Though several studies have compared self-supervised approaches in natural image classification, object detection, and medical image interpretation, there is limited data on which approaches learn robust representations for risk prediction. We present a comparison of semi- and self-supervised learning to predict mortality risk using chest x-ray images. We find that a semi-supervised autoencoder outperforms contrastive and transfer learning in internal and external validation.

Lauren H. Cooke, Matthias Jung, Jan M. Brendel et al.

Chest radiographs (CXRs) are among the most common tests in medicine. Automated image interpretation may reduce radiologists\' workload and expand access to diagnostic expertise. Deep learning multi-task and foundation models have shown strong performance for CXR interpretation but are vulnerable to shortcut learning, where models rely on spurious and off-target correlations rather than clinically relevant features to make decisions. We introduce RoentMod, a counterfactual image editing framework that generates anatomically realistic CXRs with user-specified, synthetic pathology while preserving unrelated anatomical features of the original scan. RoentMod combines an open-source medical image generator (RoentGen) with an image-to-image modification model without requiring retraining. In reader studies with board-certified radiologists and radiology residents, RoentMod-produced images appeared realistic in 93\% of cases, correctly incorporated the specified finding in 89-99\% of cases, and preserved native anatomy comparable to real follow-up CXRs. Using RoentMod, we demonstrate that state-of-the-art multi-task and foundation models frequently exploit off-target pathology as shortcuts, limiting their specificity. Incorporating RoentMod-generated counterfactual images during training mitigated this vulnerability, improving model discrimination across multiple pathologies by 3-19\% AUC in internal validation and by 1-11\% for 5 out of 6 tested pathologies in external testing. These findings establish RoentMod as a broadly applicable tool for probing and correcting shortcut learning in medical AI. By enabling controlled counterfactual interventions, RoentMod enhances the robustness and interpretability of CXR interpretation models and provides a generalizable strategy for improving foundation models in medical imaging.

Vineet K Raghu, Xiaoyu Ge, Arun Balajee et al.

High throughput genome sequencing technologies such as RNA-Seq and Microarray have the potential to transform clinical decision making and biomedical research by enabling high-throughput measurements of the genome at a granular level. However, to truly understand causes of disease and the effects of medical interventions, this data must be integrated with phenotypic, environmental, and behavioral data from individuals. Further, effective knowledge discovery methods that can infer relationships between these data types are required. In this work, we propose a pipeline for knowledge discovery from integrated genomic and clinical data. The pipeline begins with a novel variable selection method, and uses a probabilistic graphical model to understand the relationships between features in the data. We demonstrate how this pipeline can improve breast cancer outcome prediction models, and can provide a biologically interpretable view of sequencing data.