Infectious Disease Ontology

Technological developments have resulted in tremendous increases in the volume and diversity of the data and information that must be processed in the course of biomedical and clinical research and practice. Researchers are at the same time under ever greater pressure to share data and to take steps to ensure that data resources are interoperable. The use of ontologies to annotate data has proven successful in supporting these goals and in providing new possibilities for the automated processing of data and information. In this chapter, we describe different types of vocabulary resources and emphasize those features of formal ontologies that make them most useful for computational applications. We describe current uses of ontologies and discuss future goals for ontology-based computing, focusing on its use in the field of infectious diseases. We review the largest and most widely used vocabulary resources relevant to the study of infectious diseases and conclude with a description of the Infectious Disease Ontology (IDO) suite of interoperable ontology modules that together cover the entire infectious disease domain

Co-design of human-centered, explainable AI for clinical decision support

eXplainable AI (XAI) involves two intertwined but separate challenges: the development of techniques to extract explanations from black-box AI models, and the way such explanations are presented to users, i.e., the explanation user interface. Despite its importance, the second aspect has received limited attention so far in the literature. Effective AI explanation interfaces are fundamental for allowing human decision-makers to take advantage and oversee high-risk AI systems effectively. Following an iterative design approach, we present the first cycle of prototyping-testing-redesigning of an explainable AI technique, and its explanation user interface for clinical Decision Support Systems (DSS). We first present an XAI technique that meets the technical requirements of the healthcare domain: sequential, ontology-linked patient data, and multi-label classification tasks. We demonstrate its applicability to explain a clinical DSS, and we design a first prototype of an explanation user interface. Next, we test such a prototype with healthcare providers and collect their feedback, with a two-fold outcome: first, we obtain evidence that explanations increase users’ trust in the XAI system, and second, we obtain useful insights on the perceived deficiencies of their interaction with the system, so that we can re-design a better, more human-centered explanation interface

Towards a New Science of a Clinical Data Intelligence

In this paper we define Clinical Data Intelligence as the analysis of data generated in the clinical routine with the goal of improving patient care. We define a science of a Clinical Data Intelligence as a data analysis that permits the derivation of scientific, i.e., generalizable and reliable results. We argue that a science of a Clinical Data Intelligence is sensible in the context of a Big Data analysis, i.e., with data from many patients and with complete patient information. We discuss that Clinical Data Intelligence requires the joint efforts of knowledge engineering, information extraction (from textual and other unstructured data), and statistics and statistical machine learning. We describe some of our main results as conjectures and relate them to a recently funded research project involving two major German university hospitals.Comment: NIPS 2013 Workshop: Machine Learning for Clinical Data Analysis and Healthcare, 201

Contrastive Learning of Temporal Distinctiveness for Survival Analysis in Electronic Health Records

Survival analysis plays a crucial role in many healthcare decisions, where the risk prediction for the events of interest can support an informative outlook for a patient's medical journey. Given the existence of data censoring, an effective way of survival analysis is to enforce the pairwise temporal concordance between censored and observed data, aiming to utilize the time interval before censoring as partially observed time-to-event labels for supervised learning. Although existing studies mostly employed ranking methods to pursue an ordering objective, contrastive methods which learn a discriminative embedding by having data contrast against each other, have not been explored thoroughly for survival analysis. Therefore, in this paper, we propose a novel Ontology-aware Temporality-based Contrastive Survival (OTCSurv) analysis framework that utilizes survival durations from both censored and observed data to define temporal distinctiveness and construct negative sample pairs with adjustable hardness for contrastive learning. Specifically, we first use an ontological encoder and a sequential self-attention encoder to represent the longitudinal EHR data with rich contexts. Second, we design a temporal contrastive loss to capture varying survival durations in a supervised setting through a hardness-aware negative sampling mechanism. Last, we incorporate the contrastive task into the time-to-event predictive task with multiple loss components. We conduct extensive experiments using a large EHR dataset to forecast the risk of hospitalized patients who are in danger of developing acute kidney injury (AKI), a critical and urgent medical condition. The effectiveness and explainability of the proposed model are validated through comprehensive quantitative and qualitative studies.Comment: This paper has been accepted for publication at the CIKM 2023 conferenc

eXplainable AI for trustworthy healthcare applications

Acknowledging that AI will inevitably become a central element of clinical practice, this thesis investigates the role of eXplainable AI (XAI) techniques in developing trustworthy AI applications in healthcare. The first part of this thesis focuses on the societal, ethical, and legal aspects of the use of AI in healthcare. It first compares the different approaches to AI ethics worldwide and then focuses on the practical implications of the European ethical and legal guidelines for AI applications in healthcare. The second part of the thesis explores how XAI techniques can help meet three key requirements identified in the initial analysis: transparency, auditability, and human oversight. The technical transparency requirement is tackled by enabling explanatory techniques to deal with common healthcare data characteristics and tailor them to the medical field. In this regard, this thesis presents two novel XAI techniques that incrementally reach this goal by first focusing on multi-label predictive algorithms and then tackling sequential data and incorporating domainspecific knowledge in the explanation process. This thesis then analyzes the ability to leverage the developed XAI technique to audit a fictional commercial black-box clinical decision support system (DSS). Finally, the thesis studies AI explanation’s ability to effectively enable human oversight by studying the impact of explanations on the decision-making process of healthcare professionals

Association Patterns of Ontological Features Signify Electronic Health Records in Liver Cancer

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Improving ICD-based semantic similarity by accounting for varying degrees of comorbidity

Finding similar patients is a common objective in precision medicine, facilitating treatment outcome assessment and clinical decision support. Choosing widely-available patient features and appropriate mathematical methods for similarity calculations is crucial. International Statistical Classification of Diseases and Related Health Problems (ICD) codes are used worldwide to encode diseases and are available for nearly all patients. Aggregated as sets consisting of primary and secondary diagnoses they can display a degree of comorbidity and reveal comorbidity patterns. It is possible to compute the similarity of patients based on their ICD codes by using semantic similarity algorithms. These algorithms have been traditionally evaluated using a single-term expert rated data set. However, real-word patient data often display varying degrees of documented comorbidities that might impair algorithm performance. To account for this, we present a scale term that considers documented comorbidity-variance. In this work, we compared the performance of 80 combinations of established algorithms in terms of semantic similarity based on ICD-code sets. The sets have been extracted from patients with a C25.X (pancreatic cancer) primary diagnosis and provide a variety of different combinations of ICD-codes. Using our scale term we yielded the best results with a combination of level-based information content, Leacock & Chodorow concept similarity and bipartite graph matching for the set similarities reaching a correlation of 0.75 with our expert's ground truth. Our results highlight the importance of accounting for comorbidity variance while demonstrating how well current semantic similarity algorithms perform.Comment: 11 pages, 6 figures, 1 tabl

Clinical Assistant Diagnosis for Electronic Medical Record Based on Convolutional Neural Network

Automatically extracting useful information from electronic medical records along with conducting disease diagnoses is a promising task for both clinical decision support(CDS) and neural language processing(NLP). Most of the existing systems are based on artificially constructed knowledge bases, and then auxiliary diagnosis is done by rule matching. In this study, we present a clinical intelligent decision approach based on Convolutional Neural Networks(CNN), which can automatically extract high-level semantic information of electronic medical records and then perform automatic diagnosis without artificial construction of rules or knowledge bases. We use collected 18,590 copies of the real-world clinical electronic medical records to train and test the proposed model. Experimental results show that the proposed model can achieve 98.67\% accuracy and 96.02\% recall, which strongly supports that using convolutional neural network to automatically learn high-level semantic features of electronic medical records and then conduct assist diagnosis is feasible and effective.Comment: 9 pages, 4 figures, Accepted by Scientific Report