Diagnosing rare diseases presents a common challenge in clinical practice, necessitating the expertise of specialists for accurate identification. The advent of machine learning offers a promising solution, while the development of such technologies is hindered by the scarcity of data on rare conditions and the demand for models that are both interpretable and trustworthy in a clinical context. Interpretable AI, with its capacity for human-readable outputs, can facilitate validation by clinicians and contribute to medical education. In the current work, we focus on choroid neoplasias, the most prevalent form of eye cancer in adults, albeit rare with 5.1 per million. We built the so-far largest dataset consisting of 750 patients, incorporating three distinct imaging modalities collected from 2004 to 2022. Our work introduces a concept-based interpretable model that distinguishes between three types of choroidal tumors, integrating insights from domain experts via radiological reports. Remarkably, this model not only achieves an F1 score of 0.91, rivaling that of black-box models, but also boosts the diagnostic accuracy of junior doctors by 42%. This study highlights the significant potential of interpretable machine learning in improving the diagnosis of rare diseases, laying a groundwork for future breakthroughs in medical AI that could tackle a wider array of complex health scenarios.
Offline model-based policy optimization seeks to optimize a learned surrogate objective function without querying the true oracle objective during optimization. However, inaccurate surrogate model predictions are frequently encountered along the optimization trajectory. To address this limitation, we propose generative adversarial Bayesian optimization (GABO) using adaptive source critic regularization, a task-agnostic framework for Bayesian optimization that employs a Lipschitz-bounded source critic model to constrain the optimization trajectory to regions where the surrogate function is reliable. We show that under certain assumptions for the continuous input space prior, our algorithm dynamically adjusts the strength of the source critic regularization. GABO outperforms existing baselines on a number of different offline optimization tasks across a variety of scientific domains. Our code is available at https://github.com/michael-s-yao/gabo
Early diagnosis of Type 2 Diabetes Mellitus (T2DM) is crucial to enable timely therapeutic interventions and lifestyle modifications. As medical imaging data become more widely available for many patient populations, we sought to investigate whether image-derived phenotypic data could be leveraged in tabular learning classifier models to predict T2DM incidence without the use of invasive blood lab measurements. We show that both neural network and decision tree models that use image-derived phenotypes can predict patient T2DM status with recall scores as high as 87.6%. We also propose the novel use of these same architectures as 'SynthA1c encoders' that are able to output interpretable values mimicking blood hemoglobin A1C empirical lab measurements. Finally, we demonstrate that T2DM risk prediction model sensitivity to small perturbations in input vector components can be used to predict performance on covariates sampled from previously unseen patient populations.
Accelerated MRI reconstructs images of clinical anatomies from sparsely sampled signal data to reduce patient scan times. While recent works have leveraged deep learning to accomplish this task, such approaches have often only been explored in simulated environments where there is no signal corruption or resource limitations. In this work, we explore augmentations to neural network MRI image reconstructors to enhance their clinical relevancy. Namely, we propose a ConvNet model for detecting sources of image artifacts that achieves a classifer $F_2$ score of $79.1\%$. We also demonstrate that training reconstructors on MR signal data with variable acceleration factors can improve their average performance during a clinical patient scan by up to $2\%$. We offer a loss function to overcome catastrophic forgetting when models learn to reconstruct MR images of multiple anatomies and orientations. Finally, we propose a method for using simulated phantom data to pre-train reconstructors in situations with limited clinically acquired datasets and compute capabilities. Our results provide a potential path forward for clinical adaptation of accelerated MRI.