Towards a Digital Earth: Using Archetypes to Enable Knowledge Interoperability within Geo-Observational Sensor Systems Design

Earth System Science (ESS) observational data are often inadequately semantically enriched by geo-observational information systems in order to capture the true meaning of the associated data sets. Data models underpinning these information systems are often too rigid in their data representation to allow for the ever-changing and evolving nature of ESS domain concepts. This impoverished approach to observational data representation reduces the ability of multi-disciplinary practitioners to share information in a computable way. Object oriented techniques typically employed to model data in a complex domain (with evolving domain concepts) can unnecessarily exclude domain specialists from the design process, invariably leading to a mismatch between the needs of the domain specialists, and how the concepts are modelled. In many cases, an over simplification of the domain concept is captured by the computer scientist. This paper proposes that two-level modelling methodologies developed by Health Informaticians to tackle similar problems of specific domain use-case knowledge modelling can be re-used within ESS Informatics. A proposed methodology to re-use two-level modelling within geo-observational sensor systems is described. We show how the Open Geospatial Consortium’s (OGC) Observations & Measurements (O&M) standard can act as a pragmatic solution for a stable reference-model (necessary for two-level modelling), and upon which more volatile domain specific concepts can be defined and managed using archetypes. A use-case is presented, followed by a worked example showing the implementation methodology and considerations leading to an O&M based, two-level modelling design approach, to realise semantically rich and interoperable Earth System Science based geo-observational sensor systems

Generification by Translation: Designing Generic Systems in Context of the Local

While the mechanisms of generification during implementation and use of large-scale systems are well known, this paper extends and analyzes the notion into the design phase of generic systems and provides insight into the associated socio-technical key mechanisms at play. The paper draws on the information infrastructure literature, and emphasizes how generic systems’ designs always face infrastructural challenges and opportunities in the development process. The paper illustrates how a vendor solved the infrastructural challenges by (to a large degree) lending on local practice, translating perspectives, and carefully adjusting their design strategy over time. We argue that our findings have implications for practice because they underscore the malleability of the collaboration process between vendor and users. First, we suggest that designing a generic system calls for a flexible vendor willing to change and adjust the development strategy along with the evolving project. Second, to strengthen the user-developer collaboration, we highly recommend giving the user-participants, at the very early stage of a development project, a basic understanding of software design, and raising their skills in making precise contextual narratives. Third, we emphasize the importance of the project management’s engagement in recruiting clinical personnel and in making it possible for the clinicians to participate in the project. Empirically, the paper presents the initial stages of a large electronic patient record (EPR) development project that has been running from 2012 in the North Norwegian health region and is due to finish in 2016

A Two-Level Information Modelling Translation Methodology and Framework to Achieve Semantic Interoperability in Constrained GeoObservational Sensor Systems

As geographical observational data capture, storage and sharing technologies such as in situ remote monitoring systems and spatial data infrastructures evolve, the vision of a Digital Earth, first articulated by Al Gore in 1998 is getting ever closer. However, there are still many challenges and open research questions. For example, data quality, provenance and heterogeneity remain an issue due to the complexity of geo-spatial data and information representation. Observational data are often inadequately semantically enriched by geo-observational information systems or spatial data infrastructures and so they often do not fully capture the true meaning of the associated datasets. Furthermore, data models underpinning these information systems are typically too rigid in their data representation to allow for the ever-changing and evolving nature of geo-spatial domain concepts. This impoverished approach to observational data representation reduces the ability of multi-disciplinary practitioners to share information in an interoperable and computable way. The health domain experiences similar challenges with representing complex and evolving domain information concepts. Within any complex domain (such as Earth system science or health) two categories or levels of domain concepts exist. Those concepts that remain stable over a long period of time, and those concepts that are prone to change, as the domain knowledge evolves, and new discoveries are made. Health informaticians have developed a sophisticated two-level modelling systems design approach for electronic health documentation over many years, and with the use of archetypes, have shown how data, information, and knowledge interoperability among heterogenous systems can be achieved. This research investigates whether two-level modelling can be translated from the health domain to the geo-spatial domain and applied to observing scenarios to achieve semantic interoperability within and between spatial data infrastructures, beyond what is possible with current state-of-the-art approaches. A detailed review of state-of-the-art SDIs, geo-spatial standards and the two-level modelling methodology was performed. A cross-domain translation methodology was developed, and a proof-of-concept geo-spatial two-level modelling framework was defined and implemented. The Open Geospatial Consortium’s (OGC) Observations & Measurements (O&M) standard was re-profiled to aid investigation of the two-level information modelling approach. An evaluation of the method was undertaken using II specific use-case scenarios. Information modelling was performed using the two-level modelling method to show how existing historical ocean observing datasets can be expressed semantically and harmonized using two-level modelling. Also, the flexibility of the approach was investigated by applying the method to an air quality monitoring scenario using a technologically constrained monitoring sensor system. This work has demonstrated that two-level modelling can be translated to the geospatial domain and then further developed to be used within a constrained technological sensor system; using traditional wireless sensor networks, semantic web technologies and Internet of Things based technologies. Domain specific evaluation results show that twolevel modelling presents a viable approach to achieve semantic interoperability between constrained geo-observational sensor systems and spatial data infrastructures for ocean observing and city based air quality observing scenarios. This has been demonstrated through the re-purposing of selected, existing geospatial data models and standards. However, it was found that re-using existing standards requires careful ontological analysis per domain concept and so caution is recommended in assuming the wider applicability of the approach. While the benefits of adopting a two-level information modelling approach to geospatial information modelling are potentially great, it was found that translation to a new domain is complex. The complexity of the approach was found to be a barrier to adoption, especially in commercial based projects where standards implementation is low on implementation road maps and the perceived benefits of standards adherence are low. Arising from this work, a novel set of base software components, methods and fundamental geo-archetypes have been developed. However, during this work it was not possible to form the required rich community of supporters to fully validate geoarchetypes. Therefore, the findings of this work are not exhaustive, and the archetype models produced are only indicative. The findings of this work can be used as the basis to encourage further investigation and uptake of two-level modelling within the Earth system science and geo-spatial domain. Ultimately, the outcomes of this work are to recommend further development and evaluation of the approach, building on the positive results thus far, and the base software artefacts developed to support the approach

Doctor of Philosophy

dissertationDespite the advancements in therapies, next-generation sequencing, and our knowledge, breast cancer is claiming hundreds of thousands of lives around the world every year. We have therapy options that work for only a fraction of the population due to the heterogeneity of the disease. It is still overwhelmingly challenging to match a patient with the appropriate available therapy for the optimal outcome. This dissertation work focuses on using biomedical informatics approaches to development of pathwaybased biomarkers to predict personalized drug response in breast cancer and assessment of feasibility integrating such biomarkers in current electronic health records to better implement genomics-based personalized medicine. The uncontrolled proliferation in breast cancer is frequently driven by HER2/PI3K/AKT/mTOR pathway. In this pathway, the AKT node plays an important role in controlling the signal transduction. In normal breast cells, the proliferation of cells is tightly maintained at a stable rate via AKT. However, in cancer, the balance is disrupted by amplification of the upstream growth factor receptors (GFR) such as HER2, IGF1R and/or deleterious mutations in PTEN, PI3KCA. Overexpression of AKT leads to increased proliferation and decreased apoptosis and autophagy, leading to cancer. Often these known amplifications and the mutation status associated with the disease progression are used as biomarkers for determining targeting therapies. However, downstream known or unknown mutations and activations in the pathways, crosstalk iv between the pathways, can make the targeted therapies ineffective. For example, one third of HER2 amplified breast cancer patients do not respond to HER2-targeting therapies such as trastuzumab, possibly due to downstream PTEN loss of mutation or PIK3CA mutations. To identify pathway aberration with better sensitivity and specificity, I first developed gene-expression-based pathway biomarkers that can identify the deregulation status of the pathway activation status in the sample of interest. Second, I developed drug response prediction models primarily based on the pathway activity, breast cancer subtype, proteomics and mutation data. Third, I assessed the feasibility of including gene expression data or transcriptomics data in current electronic health record so that we can implement such biomarkers in routine clinical care

Uma rede telemática para a prestação regional de cuidados de saúde

Doutoramento em Engenharia InformáticaAs tecnologias de informação e comunicação na área da saúde não são só um instrumento para a boa gestão de informação, mas antes um fator estratégico para uma prestação de cuidados mais eficiente e segura. As tecnologias de informação são um pilar para que os sistemas de saúde evoluam em direção a um modelo centrado no cidadão, no qual um conjunto abrangente de informação do doente deve estar automaticamente disponível para as equipas que lhe prestam cuidados, independentemente de onde foi gerada (local geográfico ou sistema). Este tipo de utilização segura e agregada da informação clínica é posta em causa pela fragmentação generalizada das implementações de sistemas de informação em saúde. Várias aproximações têm sido propostas para colmatar as limitações decorrentes das chamadas “ilhas de informação” na saúde, desde a centralização total (um sistema único), à utilização de redes descentralizadas de troca de mensagens clínicas. Neste trabalho, propomos a utilização de uma camada de unificação baseada em serviços, através da federação de fontes de informação heterogéneas. Este agregador de informação clínica fornece a base necessária para desenvolver aplicações com uma lógica regional, que demostrámos com a implementação de um sistema de registo de saúde eletrónico virtual. Ao contrário dos métodos baseados em mensagens clínicas ponto-a-ponto, populares na integração de sistemas em saúde, desenvolvemos um middleware segundo os padrões de arquitetura J2EE, no qual a informação federada é expressa como um modelo de objetos, acessível através de interfaces de programação. A arquitetura proposta foi instanciada na Rede Telemática de Saúde, uma plataforma instalada na região de Aveiro que liga oito instituições parceiras (dois hospitais e seis centros de saúde), cobrindo ~350.000 cidadãos, utilizada por ~350 profissionais registados e que permite acesso a mais de 19.000.000 de episódios. Para além da plataforma colaborativa regional para a saúde (RTSys), introduzimos uma segunda linha de investigação, procurando fazer a ponte entre as redes para a prestação de cuidados e as redes para a computação científica. Neste segundo cenário, propomos a utilização dos modelos de computação Grid para viabilizar a utilização e integração massiva de informação biomédica. A arquitetura proposta (não implementada) permite o acesso a infraestruturas de e-Ciência existentes para criar repositórios de informação clínica para aplicações em saúde.Modern health information technology is not just a supporting instrument to good information management but a strategic requirement to provide more efficient and safer health care. Health information technology is a cornerstone to build the future patient-centric health care systems in which a comprehensive set of patient data will be available to the relevant care teams, in spite of where (system or service point) it was generated. Such secure and efficient use of clinical data is challenged by the existing fragmentation of health information systems implementation. Several approaches have been proposed to address the limitations of the so called “information silos” in healthcare, ranging from full centralization (a single system) to full-decentralized clinical message exchange networks. In this work we advocate the use of a service-based unification layer, by federating distributed heterogeneous information sources. This clinical information hub provides the basis to build regional-level applications, which we have demonstrated by implementing a virtual Electronic Health Record system. Unlike the message-driven, point-to-point approaches popular in health care systems integration, we developed a middleware layer, using J2EE architectural patterns, in which the common information is represented as an object model, accessible through programming interfaces. The proposed architecture was instantiated in the Rede Telemática da Saúde network, a platform deployed in the region of Aveiro connecting eight partner institutions (two hospitals and six primary care units), covering ~ 350,000 citizens, indexing information on more than 19,000,000 episodes of care and used by ~350 registered professionals. In addition to the regional health information collaborative platform (RTSys), we introduce a second line of research towards bridging the care networks and the science networks. In the later scenario, we propose the use of Grid computing to enable the massive use and integration of biomedical information. The proposed architecture (not implemented) enables to access existing e-Science infrastructures to create clinical information repositories for health applications

Clinical foundations and information architecture for the implementation of a federated health record service

Clinical care increasingly requires healthcare professionals to access patient record information that may be distributed across multiple sites, held in a variety of paper and electronic formats, and represented as mixtures of narrative, structured, coded and multi-media entries. A longitudinal person-centred electronic health record (EHR) is a much-anticipated solution to this problem, but its realisation is proving to be a long and complex journey. This Thesis explores the history and evolution of clinical information systems, and establishes a set of clinical and ethico-legal requirements for a generic EHR server. A federation approach (FHR) to harmonising distributed heterogeneous electronic clinical databases is advocated as the basis for meeting these requirements. A set of information models and middleware services, needed to implement a Federated Health Record server, are then described, thereby supporting access by clinical applications to a distributed set of feeder systems holding patient record information. The overall information architecture thus defined provides a generic means of combining such feeder system data to create a virtual electronic health record. Active collaboration in a wide range of clinical contexts, across the whole of Europe, has been central to the evolution of the approach taken. A federated health record server based on this architecture has been implemented by the author and colleagues and deployed in a live clinical environment in the Department of Cardiovascular Medicine at the Whittington Hospital in North London. This implementation experience has fed back into the conceptual development of the approach and has provided "proof-of-concept" verification of its completeness and practical utility. This research has benefited from collaboration with a wide range of healthcare sites, informatics organisations and industry across Europe though several EU Health Telematics projects: GEHR, Synapses, EHCR-SupA, SynEx, Medicate and 6WINIT. The information models published here have been placed in the public domain and have substantially contributed to two generations of CEN health informatics standards, including CEN TC/251 ENV 13606

Front-Line Physicians' Satisfaction with Information Systems in Hospitals

Day-to-day operations management in hospital units is difficult due to continuously varying situations, several actors involved and a vast number of information systems in use. The aim of this study was to describe front-line physicians' satisfaction with existing information systems needed to support the day-to-day operations management in hospitals. A cross-sectional survey was used and data chosen with stratified random sampling were collected in nine hospitals. Data were analyzed with descriptive and inferential statistical methods. The response rate was 65 % (n = 111). The physicians reported that information systems support their decision making to some extent, but they do not improve access to information nor are they tailored for physicians. The respondents also reported that they need to use several information systems to support decision making and that they would prefer one information system to access important information. Improved information access would better support physicians' decision making and has the potential to improve the quality of decisions and speed up the decision making process.Peer reviewe