Clinical diagnostic guidelines outline the key questions to answer to reach a diagnosis. Inspired by guidelines, we aim to develop a model that learns from electronic health records to determine the optimal sequence of actions for accurate diagnosis. Focusing on anemia and its sub-types, we employ deep reinforcement learning (DRL) algorithms and evaluate their performance on both a synthetic dataset, which is based on expert-defined diagnostic pathways, and a real-world dataset. We investigate the performance of these algorithms across various scenarios. Our experimental results demonstrate that DRL algorithms perform competitively with state-of-the-art methods while offering the significant advantage of progressively generating pathways to the suggested diagnosis, providing a transparent decision-making process that can guide and explain diagnostic reasoning.

Background: Clinical diagnosis is typically reached by following a series of steps recommended by guidelines authored by colleges of experts. Accordingly, guidelines play a crucial role in rationalizing clinical decisions but suffer from limitations as they are built to cover the majority of the population and fail at covering patients with uncommon conditions. Moreover, their updates are long and expensive, making them unsuitable for emerging diseases and practices. Methods: Inspired by guidelines, we formulate the task of diagnosis as a sequential decision-making problem and study the use of Deep Reinforcement Learning (DRL) algorithms to learn the optimal sequence of actions to perform in order to obtain a correct diagnosis from Electronic Health Records (EHRs). We apply DRL on synthetic, but realistic EHRs and develop two clinical use cases: Anemia diagnosis, where the decision pathways follow the schema of a decision tree; and Systemic Lupus Erythematosus (SLE) diagnosis, which follows a weighted criteria score. We particularly evaluate the robustness of our approaches to noisy and missing data since these frequently occur in EHRs. Results: In both use cases, and in the presence of imperfect data, our best DRL algorithms exhibit competitive performance when compared to the traditional classifiers, with the added advantage that they enable the progressive generation of a pathway to the suggested diagnosis which can both guide and explain the decision-making process. Conclusion: DRL offers the opportunity to learn personalized decision pathways to diagnosis. We illustrate with our two use cases their advantages: they generate step-by-step pathways that are self-explanatory; and their correctness is competitive when compared to state-of-the-art approaches.

Clinical diagnosis guidelines aim at specifying the steps that may lead to a diagnosis. Inspired by guidelines, we aim to learn the optimal sequence of actions to perform in order to obtain a correct diagnosis from electronic health records. We apply various deep reinforcement learning algorithms to this task and experiment on a synthetic but realistic dataset to differentially diagnose anemia and its subtypes and particularly evaluate the robustness of various approaches to noise and missing data. Experimental results show that the deep reinforcement learning algorithms show competitive performance compared to the state-of-the-art methods with the added advantage that they enable the progressive generation of a pathway to the suggested diagnosis, which can both guide and explain the decision process.

In medical research, the traditional way to collect data, i.e. browsing patient files, has been proven to induce bias, errors, human labor and costs. We propose a semi-automated system able to extract every type of data, including notes. The Smart Data Extractor pre-populates clinic research forms by following rules. We performed a cross-testing experiment to compare semi-automated to manual data collection. 20 target items had to be collected for 79 patients. The average time to complete one form was 6'81'' for manual data collection and 3'22'' with the Smart Data Extractor. There were also more mistakes during manual data collection (163 for the whole cohort) than with the Smart Data Extractor (46 for the whole cohort). We present an easy to use, understandable and agile solution to fill out clinical research forms. It reduces human effort and provides higher quality data, avoiding data re-entry and fatigue induced errors.

In this work, we present our various contributions to the objective of building a decision support tool for the diagnosis of rare diseases. Our goal is to achieve a state of knowledge where the uncertainty about the patient's disease is below a predetermined threshold. We aim to reach such states while minimizing the average number of medical tests to perform. In doing so, we take into account the need, in many medical applications, to avoid, as much as possible, any misdiagnosis. To solve this optimization task, we investigate several reinforcement learning algorithm and make them operable in our high-dimensional and sparse-reward setting. We also present a way to combine expert knowledge, expressed as conditional probabilities, with real clinical data. This is crucial because the scarcity of data in the field of rare diseases prevents any approach based solely on clinical data. Finally we show that it is possible to integrate the ontological information about symptoms while remaining in our probabilistic reasoning. It enables our decision support tool to process information given at different level of precision by the user.