Unified Representation of Genomic and Biomedical Concepts through Multi-Task, Multi-Source Contrastive Learning

We introduce GENomic Encoding REpresentation with Language Model (GENEREL), a framework designed to bridge genetic and biomedical knowledge bases. What sets GENEREL apart is its ability to fine-tune language models to infuse biological knowledge behind clinical concepts such as diseases and medications. This fine-tuning enables the model to capture complex biomedical relationships more effectively, enriching the understanding of how genomic data connects to clinical outcomes. By constructing a unified embedding space for biomedical concepts and a wide range of common SNPs from sources such as patient-level data, biomedical knowledge graphs, and GWAS summaries, GENEREL aligns the embeddings of SNPs and clinical concepts through multi-task contrastive learning. This allows the model to adapt to diverse natural language representations of biomedical concepts while bypassing the limitations of traditional code mapping systems across different data sources. Our experiments demonstrate GENEREL's ability to effectively capture the nuanced relationships between SNPs and clinical concepts. GENEREL also emerges to discern the degree of relatedness, potentially allowing for a more refined identification of concepts. This pioneering approach in constructing a unified embedding system for both SNPs and biomedical concepts enhances the potential for data integration and discovery in biomedical research.

Domain Shift Analysis in Chest Radiographs Classification in a Veterans Healthcare Administration Population

Objectives: This study aims to assess the impact of domain shift on chest X-ray classification accuracy and to analyze the influence of ground truth label quality and demographic factors such as age group, sex, and study year. Materials and Methods: We used a DenseNet121 model pretrained MIMIC-CXR dataset for deep learning-based multilabel classification using ground truth labels from radiology reports extracted using the CheXpert and CheXbert Labeler. We compared the performance of the 14 chest X-ray labels on the MIMIC-CXR and Veterans Healthcare Administration chest X-ray dataset (VA-CXR). The VA-CXR dataset comprises over 259k chest X-ray images spanning between the years 2010 and 2022. Results: The validation of ground truth and the assessment of multi-label classification performance across various NLP extraction tools revealed that the VA-CXR dataset exhibited lower disagreement rates than the MIMIC-CXR datasets. Additionally, there were notable differences in AUC scores between models utilizing CheXpert and CheXbert. When evaluating multi-label classification performance across different datasets, minimal domain shift was observed in unseen datasets, except for the label "Enlarged Cardiomediastinum." The study year's subgroup analyses exhibited the most significant variations in multi-label classification model performance. These findings underscore the importance of considering domain shifts in chest X-ray classification tasks, particularly concerning study years. Conclusion: Our study reveals the significant impact of domain shift and demographic factors on chest X-ray classification, emphasizing the need for improved transfer learning and equitable model development. Addressing these challenges is crucial for advancing medical imaging and enhancing patient care.

VISION: Toward a Standardized Process for Radiology Image Management at the National Level

The compilation and analysis of radiological images poses numerous challenges for researchers. The sheer volume of data as well as the computational needs of algorithms capable of operating on images are extensive. Additionally, the assembly of these images alone is difficult, as these exams may differ widely in terms of clinical context, structured annotation available for model training, modality, and patient identifiers. In this paper, we describe our experiences and challenges in establishing a trusted collection of radiology images linked to the United States Department of Veterans Affairs (VA) electronic health record database. We also discuss implications in making this repository research-ready for medical investigators. Key insights include uncovering the specific procedures required for transferring images from a clinical to a research-ready environment, as well as roadblocks and bottlenecks in this process that may hinder future efforts at automation.

LATTE: Label-efficient Incident Phenotyping from Longitudinal Electronic Health Records

Electronic health record (EHR) data are increasingly used to support real-world evidence (RWE) studies. Yet its ability to generate reliable RWE is limited by the lack of readily available precise information on the timing of clinical events such as the onset time of heart failure. We propose a LAbel-efficienT incidenT phEnotyping (LATTE) algorithm to accurately annotate the timing of clinical events from longitudinal EHR data. By leveraging the pre-trained semantic embedding vectors from large-scale EHR data as prior knowledge, LATTE selects predictive EHR features in a concept re-weighting module by mining their relationship to the target event and compresses their information into longitudinal visit embeddings through a visit attention learning network. LATTE employs a recurrent neural network to capture the sequential dependency between the target event and visit embeddings before/after it. To improve label efficiency, LATTE constructs highly informative longitudinal silver-standard labels from large-scale unlabeled patients to perform unsupervised pre-training and semi-supervised joint training. Finally, LATTE enhances cross-site portability via contrastive representation learning. LATTE is evaluated on three analyses: the onset of type-2 diabetes, heart failure, and the onset and relapses of multiple sclerosis. We use various evaluation metrics present in the literature including the $ABC_{gain}$, the proportion of reduction in the area between the observed event indicator and the predicted cumulative incidences in reference to the prediction per incident prevalence. LATTE consistently achieves substantial improvement over benchmark methods such as SAMGEP and RETAIN in all settings.