Computerization of workflows, guidelines and care pathways: a review of implementation challenges for process-oriented health information systems

There is a need to integrate the various theoretical frameworks and formalisms for modeling clinical guidelines, workflows, and pathways, in order to move beyond providing support for individual clinical decisions and toward the provision of process-oriented, patient-centered, health information systems (HIS). In this review, we analyze the challenges in developing process-oriented HIS that formally model guidelines, workflows, and care pathways. A qualitative meta-synthesis was performed on studies published in English between 1995 and 2010 that addressed the modeling process and reported the exposition of a new methodology, model, system implementation, or system architecture. Thematic analysis, principal component analysis (PCA) and data visualisation techniques were used to identify and cluster the underlying implementation ‘challenge’ themes. One hundred and eight relevant studies were selected for review. Twenty-five underlying ‘challenge’ themes were identified. These were clustered into 10 distinct groups, from which a conceptual model of the implementation process was developed. We found that the development of systems supporting individual clinical decisions is evolving toward the implementation of adaptable care pathways on the semantic web, incorporating formal, clinical, and organizational ontologies, and the use of workflow management systems. These architectures now need to be implemented and evaluated on a wider scale within clinical settings

Social Learning Systems: The Design of Evolutionary, Highly Scalable, Socially Curated Knowledge Systems

In recent times, great strides have been made towards the advancement of automated reasoning and knowledge management applications, along with their associated methodologies. The introduction of the World Wide Web peaked academicians’ interest in harnessing the power of linked, online documents for the purpose of developing machine learning corpora, providing dynamical knowledge bases for question answering systems, fueling automated entity extraction applications, and performing graph analytic evaluations, such as uncovering the inherent structural semantics of linked pages. Even more recently, substantial attention in the wider computer science and information systems disciplines has been focused on the evolving study of social computing phenomena, primarily those associated with the use, development, and analysis of online social networks (OSN\u27s). This work followed an independent effort to develop an evolutionary knowledge management system, and outlines a model for integrating the wisdom of the crowd into the process of collecting, analyzing, and curating data for dynamical knowledge systems. Throughout, we examine how relational data modeling, automated reasoning, crowdsourcing, and social curation techniques have been exploited to extend the utility of web-based, transactional knowledge management systems, creating a new breed of knowledge-based system in the process: the Social Learning System (SLS). The key questions this work has explored by way of elucidating the SLS model include considerations for 1) how it is possible to unify Web and OSN mining techniques to conform to a versatile, structured, and computationally-efficient ontological framework, and 2) how large-scale knowledge projects may incorporate tiered collaborative editing systems in an effort to elicit knowledge contributions and curation activities from a diverse, participatory audience

Templates as a method for implementing data provenance in decision support systems

AbstractDecision support systems are used as a method of promoting consistent guideline-based diagnosis supporting clinical reasoning at point of care. However, despite the availability of numerous commercial products, the wider acceptance of these systems has been hampered by concerns about diagnostic performance and a perceived lack of transparency in the process of generating clinical recommendations. This resonates with the Learning Health System paradigm that promotes data-driven medicine relying on routine data capture and transformation, which also stresses the need for trust in an evidence-based system. Data provenance is a way of automatically capturing the trace of a research task and its resulting data, thereby facilitating trust and the principles of reproducible research. While computational domains have started to embrace this technology through provenance-enabled execution middlewares, traditionally non-computational disciplines, such as medical research, that do not rely on a single software platform, are still struggling with its adoption. In order to address these issues, we introduce provenance templates – abstract provenance fragments representing meaningful domain actions. Templates can be used to generate a model-driven service interface for domain software tools to routinely capture the provenance of their data and tasks. This paper specifies the requirements for a Decision Support tool based on the Learning Health System, introduces the theoretical model for provenance templates and demonstrates the resulting architecture. Our methods were tested and validated on the provenance infrastructure for a Diagnostic Decision Support System that was developed as part of the EU FP7 TRANSFoRm project

Serviços de integração de dados para aplicações biomédicas

Doutoramento em Informática (MAP-i)In the last decades, the field of biomedical science has fostered unprecedented scientific advances. Research is stimulated by the constant evolution of information technology, delivering novel and diverse bioinformatics tools. Nevertheless, the proliferation of new and disconnected solutions has resulted in massive amounts of resources spread over heterogeneous and distributed platforms. Distinct data types and formats are generated and stored in miscellaneous repositories posing data interoperability challenges and delays in discoveries. Data sharing and integrated access to these resources are key features for successful knowledge extraction. In this context, this thesis makes contributions towards accelerating the semantic integration, linkage and reuse of biomedical resources. The first contribution addresses the connection of distributed and heterogeneous registries. The proposed methodology creates a holistic view over the different registries, supporting semantic data representation, integrated access and querying. The second contribution addresses the integration of heterogeneous information across scientific research, aiming to enable adequate data-sharing services. The third contribution presents a modular architecture to support the extraction and integration of textual information, enabling the full exploitation of curated data. The last contribution lies in providing a platform to accelerate the deployment of enhanced semantic information systems. All the proposed solutions were deployed and validated in the scope of rare diseases.Nas últimas décadas, o campo das ciências biomédicas proporcionou grandes avanços científicos estimulados pela constante evolução das tecnologias de informação. A criação de diversas ferramentas na área da bioinformática e a falta de integração entre novas soluções resultou em enormes quantidades de dados distribuídos por diferentes plataformas. Dados de diferentes tipos e formatos são gerados e armazenados em vários repositórios, o que origina problemas de interoperabilidade e atrasa a investigação. A partilha de informação e o acesso integrado a esses recursos são características fundamentais para a extração bem sucedida do conhecimento científico. Nesta medida, esta tese fornece contribuições para acelerar a integração, ligação e reutilização semântica de dados biomédicos. A primeira contribuição aborda a interconexão de registos distribuídos e heterogéneos. A metodologia proposta cria uma visão holística sobre os diferentes registos, suportando a representação semântica de dados e o acesso integrado. A segunda contribuição aborda a integração de diversos dados para investigações científicas, com o objetivo de suportar serviços interoperáveis para a partilha de informação. O terceiro contributo apresenta uma arquitetura modular que apoia a extração e integração de informações textuais, permitindo a exploração destes dados. A última contribuição consiste numa plataforma web para acelerar a criação de sistemas de informação semânticos. Todas as soluções propostas foram validadas no âmbito das doenças raras

Explainable methods for knowledge graph refinement and exploration via symbolic reasoning

Knowledge Graphs (KGs) have applications in many domains such as Finance, Manufacturing, and Healthcare. While recent efforts have created large KGs, their content is far from complete and sometimes includes invalid statements. Therefore, it is crucial to refine the constructed KGs to enhance their coverage and accuracy via KG completion and KG validation. It is also vital to provide human-comprehensible explanations for such refinements, so that humans have trust in the KG quality. Enabling KG exploration, by search and browsing, is also essential for users to understand the KG value and limitations towards down-stream applications. However, the large size of KGs makes KG exploration very challenging. While the type taxonomy of KGs is a useful asset along these lines, it remains insufficient for deep exploration. In this dissertation we tackle the aforementioned challenges of KG refinement and KG exploration by combining logical reasoning over the KG with other techniques such as KG embedding models and text mining. Through such combination, we introduce methods that provide human-understandable output. Concretely, we introduce methods to tackle KG incompleteness by learning exception-aware rules over the existing KG. Learned rules are then used in inferring missing links in the KG accurately. Furthermore, we propose a framework for constructing human-comprehensible explanations for candidate facts from both KG and text. Extracted explanations are used to insure the validity of KG facts. Finally, to facilitate KG exploration, we introduce a method that combines KG embeddings with rule mining to compute informative entity clusters with explanations.Wissensgraphen haben viele Anwendungen in verschiedenen Bereichen, beispielsweise im Finanz- und Gesundheitswesen. Wissensgraphen sind jedoch unvollständig und enthalten auch ungültige Daten. Hohe Abdeckung und Korrektheit erfordern neue Methoden zur Wissensgraph-Erweiterung und Wissensgraph-Validierung. Beide Aufgaben zusammen werden als Wissensgraph-Verfeinerung bezeichnet. Ein wichtiger Aspekt dabei ist die Erklärbarkeit und Verständlichkeit von Wissensgraphinhalten für Nutzer. In Anwendungen ist darüber hinaus die nutzerseitige Exploration von Wissensgraphen von besonderer Bedeutung. Suchen und Navigieren im Graph hilft dem Anwender, die Wissensinhalte und ihre Limitationen besser zu verstehen. Aufgrund der riesigen Menge an vorhandenen Entitäten und Fakten ist die Wissensgraphen-Exploration eine Herausforderung. Taxonomische Typsystem helfen dabei, sind jedoch für tiefergehende Exploration nicht ausreichend. Diese Dissertation adressiert die Herausforderungen der Wissensgraph-Verfeinerung und der Wissensgraph-Exploration durch algorithmische Inferenz über dem Wissensgraph. Sie erweitert logisches Schlussfolgern und kombiniert es mit anderen Methoden, insbesondere mit neuronalen Wissensgraph-Einbettungen und mit Text-Mining. Diese neuen Methoden liefern Ausgaben mit Erklärungen für Nutzer. Die Dissertation umfasst folgende Beiträge: Insbesondere leistet die Dissertation folgende Beiträge: • Zur Wissensgraph-Erweiterung präsentieren wir ExRuL, eine Methode zur Revision von Horn-Regeln durch Hinzufügen von Ausnahmebedingungen zum Rumpf der Regeln. Die erweiterten Regeln können neue Fakten inferieren und somit Lücken im Wissensgraphen schließen. Experimente mit großen Wissensgraphen zeigen, dass diese Methode Fehler in abgeleiteten Fakten erheblich reduziert und nutzerfreundliche Erklärungen liefert. • Mit RuLES stellen wir eine Methode zum Lernen von Regeln vor, die auf probabilistischen Repräsentationen für fehlende Fakten basiert. Das Verfahren erweitert iterativ die aus einem Wissensgraphen induzierten Regeln, indem es neuronale Wissensgraph-Einbettungen mit Informationen aus Textkorpora kombiniert. Bei der Regelgenerierung werden neue Metriken für die Regelqualität verwendet. Experimente zeigen, dass RuLES die Qualität der gelernten Regeln und ihrer Vorhersagen erheblich verbessert. • Zur Unterstützung der Wissensgraph-Validierung wird ExFaKT vorgestellt, ein Framework zur Konstruktion von Erklärungen für Faktkandidaten. Die Methode transformiert Kandidaten mit Hilfe von Regeln in eine Menge von Aussagen, die leichter zu finden und zu validieren oder widerlegen sind. Die Ausgabe von ExFaKT ist eine Menge semantischer Evidenzen für Faktkandidaten, die aus Textkorpora und dem Wissensgraph extrahiert werden. Experimente zeigen, dass die Transformationen die Ausbeute und Qualität der entdeckten Erklärungen deutlich verbessert. Die generierten unterstützen Erklärungen unterstütze sowohl die manuelle Wissensgraph- Validierung durch Kuratoren als auch die automatische Validierung. • Zur Unterstützung der Wissensgraph-Exploration wird ExCut vorgestellt, eine Methode zur Erzeugung von informativen Entitäts-Clustern mit Erklärungen unter Verwendung von Wissensgraph-Einbettungen und automatisch induzierten Regeln. Eine Cluster-Erklärung besteht aus einer Kombination von Relationen zwischen den Entitäten, die den Cluster identifizieren. ExCut verbessert gleichzeitig die Cluster- Qualität und die Cluster-Erklärbarkeit durch iteratives Verschränken des Lernens von Einbettungen und Regeln. Experimente zeigen, dass ExCut Cluster von hoher Qualität berechnet und dass die Cluster-Erklärungen für Nutzer informativ sind

OntoBioethics: A framework for the agile development of bioethics ontologies in pandemics, applied to COVID-19

Background: Few ontological attempts have been reported for conceptualizing the bioethics domain. In addition to limited scope representativeness and lack of robust methodological approaches in driving research design and evaluation of bioethics ontologies, no bioethics ontologies exist for pandemics and COVID-19. This research attempted to investigate whether studying the bioethics research literature, from the inception of bioethics research publications, facilitates developing highly agile, and representative computational bioethics ontology as a foundation for the automatic governance of bioethics processes in general and the COVID-19 pandemic in particular. Research Design: The iOntoBioethics agile research framework adopted the Design Science Research Methodology. Using systematic literature mapping, the search space resulted in 26,170 Scopus indexed bioethics articles, published since 1971. iOntoBioethics underwent two distinctive stages: (1) Manually Constructing Bioethics (MCB) ontology from selected bioethics sources, and (2) Automatically generating bioethics ontological topic models with all 26,170 sources and using special-purpose developed Text Mining and Machine-Learning (TM&ML) engine. Bioethics domain experts validated these ontologies, and further extended to construct and validate the Bioethics COVID-19 Pandemic Ontology. Results: Cross-validation of the MCB and TM&ML bioethics ontologies confirmed that the latter provided higher-level abstraction for bioethics entities with well-structured bioethics ontology class hierarchy compared to the MCB ontology. However, both bioethics ontologies were found to complement each other forming a highly comprehensive Bioethics Ontology with around 700 concepts and associations COVID-19 inclusive. Conclusion: The iOntoBioethics framework yielded the first agile, semi-automatically generated, literature-based, and domain experts validated General Bioethics and Bioethics Pandemic Ontologies Operable in COVID-19 context with readiness for automatic governance of bioethics processes. These ontologies will be regularly and semi-automatically enriched as iOntoBioethics is proposed as an open platform for scientific and healthcare communities, in their infancy COVID-19 learning stage. iOntoBioethics not only it contributes to better understanding of bioethics processes, but also serves as a bridge linking these processes to healthcare systems. Such big data analytics platform has the potential to automatically inform bioethics governance adherence given the plethora of developing bioethics and COVID-19 pandemic knowledge. Finally, iOntoBioethics contributes toward setting the first building block for forming the field of “Bioethics Informatics”

Corporate Smart Content Evaluation

Nowadays, a wide range of information sources are available due to the evolution of web and collection of data. Plenty of these information are consumable and usable by humans but not understandable and processable by machines. Some data may be directly accessible in web pages or via data feeds, but most of the meaningful existing data is hidden within deep web databases and enterprise information systems. Besides the inability to access a wide range of data, manual processing by humans is effortful, error-prone and not contemporary any more. Semantic web technologies deliver capabilities for machine-readable, exchangeable content and metadata for automatic processing of content. The enrichment of heterogeneous data with background knowledge described in ontologies induces re-usability and supports automatic processing of data. The establishment of “Corporate Smart Content” (CSC) - semantically enriched data with high information content with sufficient benefits in economic areas - is the main focus of this study. We describe three actual research areas in the field of CSC concerning scenarios and datasets applicable for corporate applications, algorithms and research. Aspect- oriented Ontology Development advances modular ontology development and partial reuse of existing ontological knowledge. Complex Entity Recognition enhances traditional entity recognition techniques to recognize clusters of related textual information about entities. Semantic Pattern Mining combines semantic web technologies with pattern learning to mine for complex models by attaching background knowledge. This study introduces the afore-mentioned topics by analyzing applicable scenarios with economic and industrial focus, as well as research emphasis. Furthermore, a collection of existing datasets for the given areas of interest is presented and evaluated. The target audience includes researchers and developers of CSC technologies - people interested in semantic web features, ontology development, automation, extracting and mining valuable information in corporate environments. The aim of this study is to provide a comprehensive and broad overview over the three topics, give assistance for decision making in interesting scenarios and choosing practical datasets for evaluating custom problem statements. Detailed descriptions about attributes and metadata of the datasets should serve as starting point for individual ideas and approaches

Exploring and linking biomedical resources through multidimensional semantic spaces

Background The semantic integration of biomedical resources is still a challenging issue which is required for effective information processing and data analysis. The availability of comprehensive knowledge resources such as biomedical ontologies and integrated thesauri greatly facilitates this integration effort by means of semantic annotation, which allows disparate data formats and contents to be expressed under a common semantic space. In this paper, we propose a multidimensional representation for such a semantic space, where dimensions regard the different perspectives in biomedical research (e.g., population, disease, anatomy and protein/genes). Results This paper presents a novel method for building multidimensional semantic spaces from semantically annotated biomedical data collections. This method consists of two main processes: knowledge and data normalization. The former one arranges the concepts provided by a reference knowledge resource (e.g., biomedical ontologies and thesauri) into a set of hierarchical dimensions for analysis purposes. The latter one reduces the annotation set associated to each collection item into a set of points of the multidimensional space. Additionally, we have developed a visual tool, called 3D-Browser, which implements OLAP-like operators over the generated multidimensional space. The method and the tool have been tested and evaluated in the context of the Health-e-Child (HeC) project. Automatic semantic annotation was applied to tag three collections of abstracts taken from PubMed, one for each target disease of the project, the Uniprot database, and the HeC patient record database. We adopted the UMLS Meta-thesaurus 2010AA as the reference knowledge resource. Conclusions Current knowledge resources and semantic-aware technology make possible the integration of biomedical resources. Such an integration is performed through semantic annotation of the intended biomedical data resources. This paper shows how these annotations can be exploited for integration, exploration, and analysis tasks. Results over a real scenario demonstrate the viability and usefulness of the approach, as well as the quality of the generated multidimensional semantic spaces

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