Automatic production and integration of knowledge to the support of the decision and planning activities in medical-clinical diagnosis, treatment and prognosis.

El concepto de procedimiento médico se refiere al conjunto de actividades seguidas por los profesionales de la salud para solucionar o mitigar el problema de salud que afecta a un paciente. La toma de decisiones dentro del procedimiento médico ha sido, por largo tiempo, uno de las áreas más interesantes de investigación en la informática médica y el contexto de investigación de esta tesis. La motivación para desarrollar este trabajo de investigación se basa en tres aspectos fundamentales: no hay modelos de conocimiento para todas las actividades médico-clínicas que puedan ser inducidas a partir de datos médicos, no hay soluciones de aprendizaje inductivo para todas las actividades de la asistencia médica y no hay un modelo integral que formalice el concepto de procedimiento médico. Por tanto, nuestro objetivo principal es desarrollar un modelo computable basado en conocimiento que integre todas las actividades de decisión y planificación para el diagnóstico, tratamiento y pronóstico médico-clínicos. Para alcanzar el objetivo principal, en primer lugar, explicamos el problema de investigación. En segundo lugar, describimos los antecedentes del problema de investigación desde los contextos médico e informático. En tercer lugar, explicamos el desarrollo de la propuesta de investigación, basada en cuatro contribuciones principales: un nuevo modelo, basado en datos y conocimiento, para la actividad de planificación en el diagnóstico y tratamiento médico-clínicos; una novedosa metodología de aprendizaje inductivo para la actividad de planificación en el diagnóstico y tratamiento médico-clínico; una novedosa metodología de aprendizaje inductivo para la actividad de decisión en el pronóstico médico-clínico, y finalmente, un nuevo modelo computable, basado en datos y conocimiento, que integra las actividades de decisión y planificación para el diagnóstico, tratamiento y pronóstico médico-clínicos.The concept of medical procedure refers to the set of activities carried out by the health care professionals to solve or mitigate the health problems that affect a patient. Decisions making within a medical procedure has been, for a long time, one of the most interesting research areas in medical informatics and the research context of this thesis. The motivation to develop this research work is based on three main aspects: Nowadays there are not knowledge models for all the medical-clinical activities that can be induced from medical data, there are not inductive learning solutions for all the medical-clinical activities, and there is not an integral model that formalizes the concept of medical procedure. Therefore, our main objective is to develop a computable model based in knowledge that integrates all the decision and planning activities for the medical-clinical diagnosis, treatment and prognosis. To achieve this main objective: first, we explain the research problem. Second, we describe the background of the work from both the medical and the informatics contexts. Third, we explain the development of the research proposal based on four main contributions: a novel knowledge representation model, based in data, to the planning activity in medical-clinical diagnosis and treatment; a novel inductive learning methodology to the planning activity in diagnosis and medical-clinical treatment; a novel inductive learning methodology to the decision activity in medical-clinical prognosis, and finally, a novel computable model, based on data and knowledge, which integrates the decision and planning activities of medical-clinical diagnosis, treatment and prognosis

Ontology driven clinical decision support for early diagnostic recommendations

Diagnostic error is a significant problem in medicine and a major cause of concern for patients and clinicians and is associated with moderate to severe harm to patients. Diagnostic errors are a primary cause of clinical negligence and can result in malpractice claims. Cognitive errors caused by biases such as premature closure and confirmation bias have been identified as major cause of diagnostic error. Researchers have identified several strategies to reduce diagnostic error arising from cognitive factors. This includes considering alternatives, reducing reliance on memory, providing access to clear and well-organized information. Clinical Decision Support Systems (CDSSs) have been shown to reduce diagnostic errors. Clinical guidelines improve consistency of care and can potentially improve healthcare efficiency. They can alert clinicians to diagnostic tests and procedures that have the greatest evidence and provide the greatest benefit. Clinical guidelines can be used to streamline clinical decision making and provide the knowledge base for guideline based CDSSs and clinical alert systems. Clinical guidelines can potentially improve diagnostic decision making by improving information gathering. Argumentation is an emerging area for dealing with unstructured evidence in domains such as healthcare that are characterized by uncertainty. The knowledge needed to support decision making is expressed in the form of arguments. Argumentation has certain advantages over other decision support reasoning methods. This includes the ability to function with incomplete information, the ability to capture domain knowledge in an easy manner, using non-monotonic logic to support defeasible reasoning and providing recommendations in a manner that can be easily explained to clinicians. Argumentation is therefore a suitable method for generating early diagnostic recommendations. Argumentation-based CDSSs have been developed in a wide variety of clinical domains. However, the impact of an argumentation-based diagnostic Clinical Decision Support System (CDSS) has not been evaluated yet. The first part of this thesis evaluates the impact of guideline recommendations and an argumentation-based diagnostic CDSS on clinician information gathering and diagnostic decision making. In addition, the impact of guideline recommendations on management decision making was evaluated. The study found that argumentation is a viable method for generating diagnostic recommendations that can potentially help reduce diagnostic error. The study showed that guideline recommendations do have a positive impact on information gathering of optometrists and can potentially help optometrists in asking the right questions and performing tests as per current standards of care. Guideline recommendations were found to have a positive impact on management decision making. The CDSS is dependent on quality of data that is entered into the system. Faulty interpretation of data can lead the clinician to enter wrong data and cause the CDSS to provide wrong recommendations. Current generation argumentation-based CDSSs and other diagnostic decision support systems have problems with semantic interoperability that prevents them from using data from the web. The clinician and CDSS is limited to information collected during a clinical encounter and cannot access information on the web that could be relevant to a patient. This is due to the distributed nature of medical information and lack of semantic interoperability between healthcare systems. Current argumentation-based decision support applications require specialized tools for modelling and execution and this prevents widespread use and adoption of these tools especially when these tools require additional training and licensing arrangements. Semantic web and linked data technologies have been developed to overcome problems with semantic interoperability on the web. Ontology-based diagnostic CDSS applications have been developed using semantic web technology to overcome problems with semantic interoperability of healthcare data in decision support applications. However, these models have problems with expressiveness, requiring specialized software and algorithms for generating diagnostic recommendations. The second part of this thesis describes the development of an argumentation-based ontology driven diagnostic model and CDSS that can execute this model to generate ranked diagnostic recommendations. This novel model called the Disease-Symptom Model combines strengths of argumentation with strengths of semantic web technology. The model allows the domain expert to model arguments favouring and negating a diagnosis using OWL/RDF language. The model uses a simple weighting scheme that represents the degree of support of each argument within the model. The model uses SPARQL to sum weights and produce a ranked diagnostic recommendation. The model can provide justifications for each recommendation in a manner that clinicians can easily understand. CDSS prototypes that can execute this ontology model to generate diagnostic recommendations were developed. The decision support prototypes demonstrated the ability to use a wide variety of data and access remote data sources using linked data technologies to generate recommendations. The thesis was able to demonstrate the development of an argumentation-based ontology driven diagnostic decision support model and decision support system that can integrate information from a variety of sources to generate diagnostic recommendations. This decision support application was developed without the use of specialized software and tools for modelling and execution, while using a simple modelling method. The third part of this thesis details evaluation of the Disease-Symptom model across all stages of a clinical encounter by comparing the performance of the model with clinicians. The evaluation showed that the Disease-Symptom Model can provide a ranked diagnostic recommendation in early stages of the clinical encounter that is comparable to clinicians. The diagnostic performance can be improved in the early stages using linked data technologies to incorporate more information into the decision making. With limited information, depending on the type of case, the performance of the Disease-Symptom Model will vary. As more information is collected during the clinical encounter the decision support application can provide recommendations that is comparable to clinicians recruited for the study. The evaluation showed that even with a simple weighting and summation method used in the Disease- Symptom Model the diagnostic ranking was comparable to dentists. With limited information in the early stages of the clinical encounter the Disease-Symptom Model was able to provide an accurately ranked diagnostic recommendation validating the model and methods used in this thesis

Information Systems and Healthcare XXXIV: Clinical Knowledge Management Systems—Literature Review and Research Issues for Information Systems

Knowledge Management (KM) has emerged as a possible solution to many of the challenges facing U.S. and international healthcare systems. These challenges include concerns regarding the safety and quality of patient care, critical inefficiency, disparate technologies and information standards, rapidly rising costs and clinical information overload. In this paper, we focus on clinical knowledge management systems (CKMS) research. The objectives of the paper are to evaluate the current state of knowledge management systems diffusion in the clinical setting, assess the present status and focus of CKMS research efforts, and identify research gaps and opportunities for future work across the medical informatics and information systems disciplines. The study analyzes the literature along two dimensions: (1) the knowledge management processes of creation, capture, transfer, and application, and (2) the clinical processes of diagnosis, treatment, monitoring and prognosis. The study reveals that the vast majority of CKMS research has been conducted by the medical and health informatics communities. Information systems (IS) researchers have played a limited role in past CKMS research. Overall, the results indicate that there is considerable potential for IS researchers to contribute their expertise to the improvement of clinical process through technology-based KM approaches

Neurocognitive Informatics Manifesto.

Informatics studies all aspects of the structure of natural and artificial information systems. Theoretical and abstract approaches to information have made great advances, but human information processing is still unmatched in many areas, including information management, representation and understanding. Neurocognitive informatics is a new, emerging field that should help to improve the matching of artificial and natural systems, and inspire better computational algorithms to solve problems that are still beyond the reach of machines. In this position paper examples of neurocognitive inspirations and promising directions in this area are given

A Comprehensive Scoping Review of Bayesian Networks in Healthcare: Past, Present and Future

No comprehensive review of Bayesian networks (BNs) in healthcare has been published in the past, making it difficult to organize the research contributions in the present and identify challenges and neglected areas that need to be addressed in the future. This unique and novel scoping review of BNs in healthcare provides an analytical framework for comprehensively characterizing the domain and its current state. The review shows that: (1) BNs in healthcare are not used to their full potential; (2) a generic BN development process is lacking; (3) limitations exists in the way BNs in healthcare are presented in the literature, which impacts understanding, consensus towards systematic methodologies, practice and adoption of BNs; and (4) a gap exists between having an accurate BN and a useful BN that impacts clinical practice. This review empowers researchers and clinicians with an analytical framework and findings that will enable understanding of the need to address the problems of restricted aims of BNs, ad hoc BN development methods, and the lack of BN adoption in practice. To map the way forward, the paper proposes future research directions and makes recommendations regarding BN development methods and adoption in practice

A Learning Health System for Radiation Oncology

The proposed research aims to address the challenges faced by clinical data science researchers in radiation oncology accessing, integrating, and analyzing heterogeneous data from various sources. The research presents a scalable intelligent infrastructure, called the Health Information Gateway and Exchange (HINGE), which captures and structures data from multiple sources into a knowledge base with semantically interlinked entities. This infrastructure enables researchers to mine novel associations and gather relevant knowledge for personalized clinical outcomes. The dissertation discusses the design framework and implementation of HINGE, which abstracts structured data from treatment planning systems, treatment management systems, and electronic health records. It utilizes disease-specific smart templates for capturing clinical information in a discrete manner. HINGE performs data extraction, aggregation, and quality and outcome assessment functions automatically, connecting seamlessly with local IT/medical infrastructure. Furthermore, the research presents a knowledge graph-based approach to map radiotherapy data to an ontology-based data repository using FAIR (Findable, Accessible, Interoperable, Reusable) concepts. This approach ensures that the data is easily discoverable and accessible for clinical decision support systems. The dissertation explores the ETL (Extract, Transform, Load) process, data model frameworks, ontologies, and provides a real-world clinical use case for this data mapping. To improve the efficiency of retrieving information from large clinical datasets, a search engine based on ontology-based keyword searching and synonym-based term matching tool was developed. The hierarchical nature of ontologies is leveraged to retrieve patient records based on parent and children classes. Additionally, patient similarity analysis is conducted using vector embedding models (Word2Vec, Doc2Vec, GloVe, and FastText) to identify similar patients based on text corpus creation methods. Results from the analysis using these models are presented. The implementation of a learning health system for predicting radiation pneumonitis following stereotactic body radiotherapy is also discussed. 3D convolutional neural networks (CNNs) are utilized with radiographic and dosimetric datasets to predict the likelihood of radiation pneumonitis. DenseNet-121 and ResNet-50 models are employed for this study, along with integrated gradient techniques to identify salient regions within the input 3D image dataset. The predictive performance of the 3D CNN models is evaluated based on clinical outcomes. Overall, the proposed Learning Health System provides a comprehensive solution for capturing, integrating, and analyzing heterogeneous data in a knowledge base. It offers researchers the ability to extract valuable insights and associations from diverse sources, ultimately leading to improved clinical outcomes. This work can serve as a model for implementing LHS in other medical specialties, advancing personalized and data-driven medicine

The case for open science: rare diseases.

The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important and appreciated than in the rare disease (RD) community. Research into RDs has been limited by insufficient patient data and resources, a paucity of trained disease experts, and lack of therapeutics, leading to long delays in diagnosis and treatment. These issues can be ameliorated by following the principles and practices of sharing that are intrinsic to Open Science. Here, we describe how the RD community has adopted the core pillars of Open Science, adding new initiatives to promote care and research for RD patients and, ultimately, for all of medicine. We also present recommendations that can advance Open Science more globally

Distributed Knowledge Modeling and Integration of Model-Based Beliefs into the Clinical Decision-Making Process

Das Treffen komplexer medizinischer Entscheidungen wird durch die stetig steigende Menge an zu berücksichtigenden Informationen zunehmend komplexer. Dieser Umstand ist vor allem auf die Verfügbarkeit von immer präziseren diagnostischen Methoden zur Charakterisierung der Patienten zurückzuführen (z.B. genetische oder molekulare Faktoren). Hiermit einher geht die Entwicklung neuartiger Behandlungsstrategien und Wirkstoffe sowie die damit verbundenen Evidenzen aus klinischen Studien und Leitlinien. Dieser Umstand stellt die behandelnden Ärztinnen und Ärzte vor neuartige Herausforderungen im Hinblick auf die Berücksichtigung aller relevanten Faktoren im Kontext der klinischen Entscheidungsfindung. Moderne IT-Systeme können einen wesentlichen Beitrag leisten, um die klinischen Experten weitreichend zu unterstützen. Diese Assistenz reicht dabei von Anwendungen zur Vorverarbeitung von Daten für eine Reduktion der damit verbundenen Komplexität bis hin zur systemgestützten Evaluation aller notwendigen Patientendaten für eine therapeutischen Entscheidungsunterstützung. Möglich werden diese Funktionen durch die formale Abbildung von medizinischem Fachwissen in Form einer komplexen Wissensbasis, welche die kognitiven Prozesse im Entscheidungsprozess adaptiert. Entsprechend werden an den Prozess der IT-konformen Wissensabbildung erhöhte Anforderungen bezüglich der Validität und Signifikanz der enthaltenen Informationen gestellt. In den ersten beiden Kapiteln dieser Arbeit wurden zunächst wichtige methodische Grundlagen im Kontext der strukturierten Abbildung von Wissen sowie dessen Nutzung für die klinische Entscheidungsunterstützung erläutert. Hierbei wurden die inhaltlichen Kernthemen weiterhin im Rahmen eines State of the Art mit bestehenden Ansätzen abgeglichen, um den neuartigen Charakter der vorgestellten Lösungen herauszustellen. Als innovativer Kern wurde zunächst die Konzeption und Umsetzung eines neuartigen Ansatzes zur Fusion von fragmentierten Wissensbausteinen auf der formalen Grundlage von Bayes-Netzen vorgestellt. Hierfür wurde eine neuartige Datenstruktur unter Verwendung des JSON Graph Formats erarbeitet. Durch die Entwicklung von qualifizierten Methoden zum Umgang mit den formalen Kriterien eines Bayes-Netz wurden weiterhin Lösungen aufgezeigt, welche einen automatischen Fusionsprozess durch einen eigens hierfür entwickelten Algorithmus ermöglichen. Eine prototypische und funktionale Plattform zur strukturierten und assistierten Integration von Wissen sowie zur Erzeugung valider Bayes-Netze als Resultat der Fusion wurde unter Verwendung eines Blockchain Datenspeichers implementiert und in einer Nutzerstudie gemäß ISONORM 9241/110-S evaluiert. Aufbauend auf dieser technologischen Plattform wurden im Anschluss zwei eigenständige Entscheidungsunterstützungssysteme vorgestellt, welche relevante Anwendungsfälle im Kontext der HNO-Onkologie adressieren. Dies ist zum einen ein System zur personalisierten Bewertung von klinischen Laborwerten im Kontext einer Radiochemotherapie und zum anderen ein in Form eines Dashboard implementiertes Systems zur effektiveren Informationskommunikation innerhalb des Tumor Board. Beide Konzepte wurden hierbei zunächst im Rahmen einer initialen Nutzerstudie auf Relevanz geprüft, um eine nutzerzentrische Umsetzung zu gewährleisten. Aufgrund des zentralen Fokus dieser Arbeit auf den Bereich der klinischen Entscheidungsunterstützung, werden an zahlreichen Stellen sowohl kritische als auch optimistische Aspekte der damit verbundenen praktischen Lösungen diskutiert.:1 Introduction 1.1 Motivation and Clinical Setting 1.2 Objectives 1.3 Thesis Outline 2 State of the Art 2.1 Medical Knowledge Modeling 2.2 Knowledge Fusion 2.3 Clinical Decision Support Systems 2.4 Clinical Information Access 3 Fundamentals 3.1 Evidence-Based Medicine 3.1.1 Literature-Based Evidence 3.1.2 Practice-Based Evidence 3.1.3 Patient-Directed Evidence 3.2 Knowledge Representation Formats 3.2.1 Logic-Based Representation 3.2.2 Procedural Representation 3.2.3 Network or Graph-Based Representation 3.3 Knowledge-Based Clinical Decision Support 3.4 Conditional Probability and Bayesian Networks 3.5 Clinical Reasoning 3.5.1 Deterministic Reasoning 3.5.2 Probabilistic Reasoning 3.6 Knowledge Fusion of Bayesian Networks 4 Block-Based Collaborative Knowledge Modeling 4.1 Data Model 4.1.1 Belief Structure 4.1.2 Conditional Probabilities 4.1.3 Metadata 4.2 Constraint-Based Automatic Knowledge Fusion 4.2.1 Fusion of the Bayesian Network Structures 4.2.2 Fusion of the Conditional Probability Tables 4.3 Blockchain-Based Belief Storage and Retrieval 4.3.1 Blockchain Characteristics 4.3.2 Relevance for Belief Management 5 Selected CDS Applications for Clinical Practice 5.1 Distributed Knowledge Modeling Platform 5.1.1 Requirement Analysis 5.1.2 System Architecture 5.1.3 System Evaluation 5.1.4 Limitations of the Proposed Solution 5.2 Personalization of Laboratory Findings 5.2.1 Requirement Analysis 5.2.2 System Architecture 5.2.3 Limitations of the Proposed Solution 5.3 Dashboard for Collaborative Decision-Making in the Tumor Board 5.3.1 Requirement Analysis 5.3.2 System Architecture 5.3.3 Limitations of the Proposed Solution 6 Discussion 6.1 Goal Achievements 6.2 Contributions and Conclusion 7 Bibliograph