Comparative study of healthcare messaging standards for interoperability in ehealth systems

Advances in the information and communication technology have created the field of "health informatics," which amalgamates healthcare, information technology and business. The use of information systems in healthcare organisations dates back to 1960s, however the use of technology for healthcare records, referred to as Electronic Medical Records (EMR), management has surged since 1990’s (Net-Health, 2017) due to advancements the internet and web technologies. Electronic Medical Records (EMR) and sometimes referred to as Personal Health Record (PHR) contains the patient’s medical history, allergy information, immunisation status, medication, radiology images and other medically related billing information that is relevant. There are a number of benefits for healthcare industry when sharing these data recorded in EMR and PHR systems between medical institutions (AbuKhousa et al., 2012). These benefits include convenience for patients and clinicians, cost-effective healthcare solutions, high quality of care, resolving the resource shortage and collecting a large volume of data for research and educational needs. My Health Record (MyHR) is a major project funded by the Australian government, which aims to have all data relating to health of the Australian population stored in digital format, allowing clinicians to have access to patient data at the point of care. Prior to 2015, MyHR was known as Personally Controlled Electronic Health Record (PCEHR). Though the Australian government took consistent initiatives there is a significant delay (Pearce and Haikerwal, 2010) in implementing eHealth projects and related services. While this delay is caused by many factors, interoperability is identified as the main problem (Benson and Grieve, 2016c) which is resisting this project delivery. To discover the current interoperability challenges in the Australian healthcare industry, this comparative study is conducted on Health Level 7 (HL7) messaging models such as HL7 V2, V3 and FHIR (Fast Healthcare Interoperability Resources). In this study, interoperability, security and privacy are main elements compared. In addition, a case study conducted in the NSW Hospitals to understand the popularity in usage of health messaging standards was utilised to understand the extent of use of messaging standards in healthcare sector. Predominantly, the project used the comparative study method on different HL7 (Health Level Seven) messages and derived the right messaging standard which is suitable to cover the interoperability, security and privacy requirements of electronic health record. The issues related to practical implementations, change over and training requirements for healthcare professionals are also discussed

Combining ontologies and rules with clinical archetypes

Al igual que otros campos que dependen en gran medida de las funcionalidades ofrecidas por las tecnologías de la información y las comunicaciones (IT), la biomedicina y la salud necesitan cada vez más la implantación de normas y mecanismos ampliamente aceptados para el intercambio de datos, información y conocimiento. Dicha necesidad de compatibilidad e interoperabilidad va más allá de las cuestiones sintácticas y estructurales, pues la interoperabilidad semántica es también requerida. La interoperabilidad a nivel semántico es esencial para el soporte computarizado de alertas, flujos de trabajo y de la medicina basada en evidencia cuando contamos con la presencia de sistemas heterogéneos de Historia Clínica Electrónica (EHR). El modelo de arquetipos clínicos respaldado por el estándar CEN/ISO EN13606 y la fundación openEHR ofrece un mecanismo para expresar las estructuras de datos clínicos de manera compartida e interoperable. El modelo ha ido ganando aceptación en los últimos años por su capacidad para definir conceptos clínicos basados en un Modelo de Referencia común. Dicha separación a dos capas permite conservar la heterogeneidad de las implementaciones de almacenamiento a bajo nivel, presentes en los diferentes sistemas de EHR. Sin embargo, los lenguajes de arquetipos no soportan la representación de reglas clínicas ni el mapeo a ontologías formales, ambos elementos fundamentales para alcanzar la interoperabilidad semántica completa pues permiten llevar a cabo el razonamiento y la inferencia a partir del conocimiento clínico existente. Paralelamente, es reconocido el hecho de que la World Wide Web presenta requisitos análogos a los descritos anteriormente, lo cual ha fomentado el desarrollo de la Web Semántica. El progreso alcanzado en este terreno, con respecto a la representación del conocimiento y al razonamiento sobre el mismo, es combinado en esta tesis con los modelos de EHR con el objetivo de mejorar el enfoque de los arquetipos clínicos y ofrecer funcionalidades que se corresponden con nivel más alto de interoperabilidad semántica. Concretamente, la investigación que se describe a continuación presenta y evalúa un enfoque para traducir automáticamente las definiciones expresadas en el lenguaje de definición de arquetipos de openEHR (ADL) a una representación formal basada en lenguajes de ontologías. El método se implementa en la plataforma ArchOnt, que también es descrita. A continuación se estudia la integración de dichas representaciones formales con reglas clínicas, ofreciéndose un enfoque para reutilizar el razonamiento con instancias concretas de datos clínicos. Es importante ver como el acto de compartir el conocimiento clínico expresado a través de reglas es coherente con la filosofía de intercambio abierto fomentada por los arquetipos, a la vez que se extiende la reutilización a proposiciones de conocimiento declarativo como las utilizadas en las guías de práctica clínica. De esta manera, la tesis describe una técnica de mapeo de arquetipos a ontologías, para luego asociar reglas clínicas a la representación resultante. La traducción automática también permite la conexión formal de los elementos especificados en los arquetipos con conceptos clínicos equivalentes provenientes de otras fuentes como son las terminologías clínicas. Dichos enlaces fomentan la reutilización del conocimiento clínico ya representado, así como el razonamiento y la navegación a través de distintas ontologías clínicas. Otra contribución significativa de la tesis es la aplicación del enfoque mencionado en dos proyectos de investigación y desarrollo clínico, llevados a cabo en combinación con hospitales universitarios de Madrid. En la explicación se incluyen ejemplos de las aplicaciones más representativas del enfoque como es el caso del desarrollo de sistemas de alertas orientados a mejorar la seguridad del paciente. No obstante, la traducción automática de arquetipos clínicos a lenguajes de ontologías constituye una base común para la implementación de una amplia gama de actividades semánticas, razonamiento y validación, evitándose así la necesidad de aplicar distintos enfoques ad-hoc directamente sobre los arquetipos para poder satisfacer las condiciones de cada contexto

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

Towards a rule-based support system for the coding of health conditions in the patient summary

In the frame of federated and interoperable Electronic Health Records (EHRs), specific coding systems are mandatory for filling out healthcare documents such as the Patient Summary (PS). PS cannot be automatically generated from the patient’s EHR data, because of the sensitivity of its content. For this reason it needs to be validated by a General Practitioner (GP), who is the sole responsible of this document. The literature shows that the practice of coding is recognized as a difficult task for GPs and it often generates coding errors and misspecifications of clinical data. To overcome this issue, a support system based on standardized and formalized coding rules for the domain of application is proposed, to facilitate a more accurate coding process without breaking the law

Vocabulary services for eHealth applications in Portugal

Mestrado em Engenharia Electrónica e TelecomunicaçõesO uso seguro de eSa ude requer que as ferramentas de informa c~ao partilhem a mesma interpreta c~ao de dados mas, no actual estado das implanta c~oes, os sistemas s~ao normalmente heterog eneos e adoptam modelos de informa c~ao locais. A falta de solu c~oes para a comunica c~ao entre diferentes sistemas a n vel t ecnico e especialmente a n vel sem^antico di culta a capacidade de usar a informa c~ao relativa ao mesmo utente de forma continuada entre m ultiplos sistemas. Uma contribui c~ao parcial para facilitar a integra c~ao de fontes de informa c~ao diferentes e o uso de terminologias m edicas, que clari cam o uso pretendido de certos campos da informa c~ao e os respectivos valores. Neste trabalho e proposto o uso de um servidor de vocabul ario como um componente central do sistema com o objectivo de satisfazer dois casos de uso mais pertinentes: (1) criar um servi co de refer^encia para a realidade portuguesa e (2) permitir a transforma c~ao de estruturas de informa c~ao para outros modelos cl nicos (para cen arios de interoperabilidade). A ferramenta proposta, al em de funcionar como um servidor de terminologias relevantes para o sistema de sa ude portugu^es, e tamb em capaz de modelar associa c~oes sem^anticas entre terminologias diferentes, permitindo assim a tradu c~ao e transcodi ca c~ao de conceitos. As especi cidades da rede de interoperabilidade do epSOS foram tomadas em considera c~ao para o desenvolvimento das especi ca c~oes. O sistema possui a capacidade de mapear terminologias carregadas, oferece uma representa c~ao dessa informa c~ao (e.g. vista de um grafo de conceitos relacionada com uma doen ca espec ca) e permite importar essa mesma informa c~ao nos formatos RDF e JSON. Uma interface de programa c~ao de aplica c~oes (API) foi desenvolvida para permitir a um utilizador fazer interroga c~oes sem^anticas de alto n vel, como por exemplo, o mapeamento entre terminologias usadas no sistema de sa ude portugu^es. Os resultados deste trabalho podem facilitar o desenvolvimento de solu c~oes em eSa ude atrav es da disponibiliza c~ao de servi cos b asicos relacionados com terminologias, melhorando assim a interoperabilidade das aplica c~oes.The safe use of eHealth requires that information tools share the same interpretation of the data but, in the current state of the implementations, systems are often heterogeneous and adopt local information models. The lack of interfacing solutions between di erent systems at the technical and, specially, semantic level, hinders the ability to use seamlessly information for the same patient, available at multiple sources. A partial contribution to facilitate the integration of di erent information sources is the use of medical terminologies, which clarify the intended use of certain data elds and the possible value sets. In this work, we propose the use of a vocabulary server as a central component to enable two motivating use cases: (1) enable a reference semantic service for the Portuguese reality and (2) enable the transformation of clinical data structures into other clinical models (for interoperability scenarios). The proposed tool, besides serving terminologies relevant to the Portuguese health system, is also capable of modelling semantic associations between di erent terminology systems to enable translation and transcoding. The speci c requirements of the epSOS interoperability network were used to drive the speci cation. The system is able to link terminologies, o er a visual representation of that information (e.g. the viewing of a graph of concepts related to a speci c disease) and allows that information extraction in RDF and JSON formats. An application programming interface was developed to enable developer to issue high-level semantic interrogations like, for example, mapping between terminology systems used in the Portuguese health system. The results of this work can facilitate eHealth solutions developers on getting basic terminology services to extend their applications towards enhanced interoperability

Cohort Identification Using Semantic Web Technologies: Ontologies and Triplestores as Engines for Complex Computable Phenotyping

Electronic health record (EHR)-based computable phenotypes are algorithms used to identify individuals or populations with clinical conditions or events of interest within a clinical data repository. Due to a lack of EHR data standardization, computable phenotypes can be semantically ambiguous and difficult to share across institutions. In this research, I propose a new computable phenotyping methodological framework based on semantic web technologies, specifically ontologies, the Resource Description Framework (RDF) data format, triplestores, and Web Ontology Language (OWL) reasoning. My hypothesis is that storing and analyzing clinical data using these technologies can begin to address the critical issues of semantic ambiguity and lack of interoperability in the context of computable phenotyping. To test this hypothesis, I compared the performance of two variants of two computable phenotypes (for depression and rheumatoid arthritis, respectively). The first variant of each phenotype used a list of ICD-10-CM codes to define the condition; the second variant used ontology concepts from SNOMED and the Human Phenotype Ontology (HPO). After executing each variant of each phenotype against a clinical data repository, I compared the patients matched in each case to see where the different variants overlapped and diverged. Both the ontologies and the clinical data were stored in an RDF triplestore to allow me to assess the interoperability advantages of the RDF format for clinical data. All tested methods successfully identified cohorts in the data store, with differing rates of overlap and divergence between variants. Depending on the phenotyping use case, SNOMED and HPO’s ability to more broadly define many conditions due to complex relationships between their concepts may be seen as an advantage or a disadvantage. I also found that RDF triplestores do indeed provide interoperability advantages, despite being far less commonly used in clinical data applications than relational databases. Despite the fact that these methods and technologies are not “one-size-fits-all,” the experimental results are encouraging enough for them to (1) be put into practice in combination with existing phenotyping methods or (2) be used on their own for particularly well-suited use cases.Doctor of Philosoph

Combining ontologies and rules with clinical archetypes

Al igual que otros campos que dependen en gran medida de las funcionalidades ofrecidas por las tecnologías de la información y las comunicaciones (IT), la biomedicina y la salud necesitan cada vez más la implantación de normas y mecanismos ampliamente aceptados para el intercambio de datos, información y conocimiento. Dicha necesidad de compatibilidad e interoperabilidad va más allá de las cuestiones sintácticas y estructurales, pues la interoperabilidad semántica es también requerida. La interoperabilidad a nivel semántico es esencial para el soporte computarizado de alertas, flujos de trabajo y de la medicina basada en evidencia cuando contamos con la presencia de sistemas heterogéneos de Historia Clínica Electrónica (EHR). El modelo de arquetipos clínicos respaldado por el estándar CEN/ISO EN13606 y la fundación openEHR ofrece un mecanismo para expresar las estructuras de datos clínicos de manera compartida e interoperable. El modelo ha ido ganando aceptación en los últimos años por su capacidad para definir conceptos clínicos basados en un Modelo de Referencia común. Dicha separación a dos capas permite conservar la heterogeneidad de las implementaciones de almacenamiento a bajo nivel, presentes en los diferentes sistemas de EHR. Sin embargo, los lenguajes de arquetipos no soportan la representación de reglas clínicas ni el mapeo a ontologías formales, ambos elementos fundamentales para alcanzar la interoperabilidad semántica completa pues permiten llevar a cabo el razonamiento y la inferencia a partir del conocimiento clínico existente. Paralelamente, es reconocido el hecho de que la World Wide Web presenta requisitos análogos a los descritos anteriormente, lo cual ha fomentado el desarrollo de la Web Semántica. El progreso alcanzado en este terreno, con respecto a la representación del conocimiento y al razonamiento sobre el mismo, es combinado en esta tesis con los modelos de EHR con el objetivo de mejorar el enfoque de los arquetipos clínicos y ofrecer funcionalidades que se corresponden con nivel más alto de interoperabilidad semántica. Concretamente, la investigación que se describe a continuación presenta y evalúa un enfoque para traducir automáticamente las definiciones expresadas en el lenguaje de definición de arquetipos de openEHR (ADL) a una representación formal basada en lenguajes de ontologías. El método se implementa en la plataforma ArchOnt, que también es descrita. A continuación se estudia la integración de dichas representaciones formales con reglas clínicas, ofreciéndose un enfoque para reutilizar el razonamiento con instancias concretas de datos clínicos. Es importante ver como el acto de compartir el conocimiento clínico expresado a través de reglas es coherente con la filosofía de intercambio abierto fomentada por los arquetipos, a la vez que se extiende la reutilización a proposiciones de conocimiento declarativo como las utilizadas en las guías de práctica clínica. De esta manera, la tesis describe una técnica de mapeo de arquetipos a ontologías, para luego asociar reglas clínicas a la representación resultante. La traducción automática también permite la conexión formal de los elementos especificados en los arquetipos con conceptos clínicos equivalentes provenientes de otras fuentes como son las terminologías clínicas. Dichos enlaces fomentan la reutilización del conocimiento clínico ya representado, así como el razonamiento y la navegación a través de distintas ontologías clínicas. Otra contribución significativa de la tesis es la aplicación del enfoque mencionado en dos proyectos de investigación y desarrollo clínico, llevados a cabo en combinación con hospitales universitarios de Madrid. En la explicación se incluyen ejemplos de las aplicaciones más representativas del enfoque como es el caso del desarrollo de sistemas de alertas orientados a mejorar la seguridad del paciente. No obstante, la traducción automática de arquetipos clínicos a lenguajes de ontologías constituye una base común para la implementación de una amplia gama de actividades semánticas, razonamiento y validación, evitándose así la necesidad de aplicar distintos enfoques ad-hoc directamente sobre los arquetipos para poder satisfacer las condiciones de cada contexto

Semantic Ontologies for Complex Healthcare Structures: A Scoping Review

The healthcare environment is made up of highly complicated interactions between many technologies, activities, and people. Ensuring a solid communication between them is vital to ease the healthcare management. Semantic ontologies are knowledge representation tools that implement abstractions to fully describe a given topic in terms of subjects and relations. This scoping review aims to identify and analyse available ontologies which can depict all the available use-cases that describe the hospital environment in relation to the European project ODIN and its future expansion. The review has been conducted on the Scopus database on January 13th, 2023 using the PRISMA extensions for scoping reviews. Two reviewers screened 3,225 documents emerged from the database search. Further filtering led to a final set of 32 articles to be analysed for the results. A set of 34 ontologies extracted by the identified articles has been analysed and discussed as well. The results of this study will lead to the implementation of a common integrated ontology which could hold information about healthcare entities as well as their semantic relationships, strengthen data exchange and interconnections among people, devices and applications in an expanded scenario which include Internet of Things, robots and Artificial Intelligence

Towards a rule-based support system for the coding of health conditions in the Patient Summary

Abstract. In the frame of federated and interoperable Electronic Health Records (EHRs), specific coding systems are mandatory for filling out healthcare documents such as the Patient Summary (PS). PS cannot be automatically generated from the patient's EHR data, because of the sensitivity of its content. For this reason it needs to be validated by a General Practitioner (GP), who is the sole responsible of this document. The literature shows that the practice of coding is recognized as a difficult task for GPs and it often generates coding errors and misspecifications of clinical data. To overcome this issue, a support system based on standardized and formalized coding rules for the domain of application is proposed, to facilitate a more accurate coding process without breaking the law