Learning Normal Representations for Blood Biomarkers

Blood-based biomarkers underpin clinical diagnosis and management, yet their interpretation relies largely on fixed population reference intervals that ignore stable, intra-patient variability. As such, population-based interpretation can mask meaningful deviation from an individual's baseline, risking delayed disease detection. To remedy this, there have been increasing efforts to personalize blood biomarker interpretation using individual testing histories. However, these methods may overfit to sparse data, inflating false-positive rates and unnecessary follow-up, and can also unwittingly include unrecognized or subclinical disease. Here, we leverage nearly 2 billion longitudinal laboratory measurements from over 1.6 million individuals across North America, the Middle East, and East Asia, to show that while laboratory values are highly individual, purely personalized intervals routinely overfit, classifying up to 68% of measurements as abnormal, without corresponding associations with adverse clinical outcomes. We then introduce NORMA, a conditional transformer-based framework that generates reference intervals by conditioning on both a patient's history and population-level data about "normal" variation. NORMA-derived intervals achieve higher precision for predicting outcomes, including mortality, acute kidney injury, and chronic disease. These findings caution against over-personalization in laboratory medicine and demonstrate that anchoring individual trajectories to population-level priors outperforms either approach alone. To promote transparency, we publicly release the model, code, and an interactive user interface for accessible, individualized laboratory interpretation.

Barttender: An approachable & interpretable way to compare medical imaging and non-imaging data

Imaging-based deep learning has transformed healthcare research, yet its clinical adoption remains limited due to challenges in comparing imaging models with traditional non-imaging and tabular data. To bridge this gap, we introduce Barttender, an interpretable framework that uses deep learning for the direct comparison of the utility of imaging versus non-imaging tabular data for tasks like disease prediction. Barttender converts non-imaging tabular features, such as scalar data from electronic health records, into grayscale bars, facilitating an interpretable and scalable deep learning based modeling of both data modalities. Our framework allows researchers to evaluate differences in utility through performance measures, as well as local (sample-level) and global (population-level) explanations. We introduce a novel measure to define global feature importances for image-based deep learning models, which we call gIoU. Experiments on the CheXpert and MIMIC datasets with chest X-rays and scalar data from electronic health records show that Barttender performs comparably to traditional methods and offers enhanced explainability using deep learning models.