The advancement of sciences and technologies, economic challenges, increasing expectations, and consumerism result in a radical transformation of health and social care around the globe, characterized by foundational organizational, methodological, and technological paradigm changes. The transformation of the health and social care ecosystems aims at ubiquitously providing personalized, preventive, predictive, participative precision (5P) medicine, considering and understanding the individual's health status in a comprehensive context from the elementary particle up to society. For designing and implementing such advanced ecosystems, an understanding and correct representation of the structure, function, and relations of their components is inevitable, thereby including the perspectives, principles, and methodologies of all included disciplines. To guarantee consistent and conformant processes and outcomes, the specifications and principles must be based on international standards. A core standard for representing transformed health ecosystems and managing the integration and interoperability of systems, components, specifications, and artifacts is ISO 23903:2021, therefore playing a central role in this publication. Consequently, ISO/TC 215 and CEN/TC 251, both representing the international standardization on health informatics, declared the deployment of ISO 23903:2021 mandatory for all their projects and standards addressing more than one domain. The paper summarizes and concludes the first author's leading engagement in the evolution of pHealth in Europe and beyond over the last 15 years, discussing the concepts, principles, and standards for designing, implementing, and managing 5P medicine ecosystems. It not only introduces the theoretical foundations of the approach but also exemplifies its deployment in practical projects and solutions regarding interoperability and integration in multi-domain ecosystems. The presented approach enables comprehensive and consistent integration of and interoperability between domains, systems, related actors, specifications, standards, and solutions. That way, it should help overcome the problems and limitations of data-centric approaches, which still dominate projects and products nowadays, and replace them with knowledge-centric, comprehensive, and consistent ones.

• Keywords
• 5P medicine, ecosystem, integration, interoperability, knowledge management, knowledge representation, modeling, system architecture,
• Publication type
• Journal Article MeSH

The ongoing transformation of health systems around the world aims at personalized, preventive, predictive, participative precision medicine, supported by technology. It considers individual health status, conditions, and genetic and genomic dispositions in personal, social, occupational, environmental and behavioral contexts. In this way, it transforms health and social care from art to science by fully understanding the pathology of diseases and turning health and social care from reactive to proactive. The challenge is the understanding and the formal as well as consistent representation of the world of sciences and practices, i.e., of multidisciplinary and dynamic systems in variable context. This enables mapping between the different disciplines, methodologies, perspectives, intentions, languages, etc., as philosophy or cognitive sciences do. The approach requires the deployment of advanced technologies including autonomous systems and artificial intelligence. This poses important ethical and governance challenges. This paper describes the aforementioned transformation of health and social care ecosystems as well as the related challenges and solutions, resulting in a sophisticated, formal reference architecture. This reference architecture provides a system-theoretical, architecture-centric, ontology-based, policy-driven model and framework for designing and managing intelligent and ethical ecosystems in general and health ecosystems in particular.

• Keywords
• architecture, ecosystems, health transformation, knowledge representation and management,
• Publication type
• Journal Article MeSH

This paper provides an overview of current linguistic and ontological challenges which have to be met in order to provide full support to the transformation of health ecosystems in order to meet precision medicine (5 PM) standards. It highlights both standardization and interoperability aspects regarding formal, controlled representations of clinical and research data, requirements for smart support to produce and encode content in a way that humans and machines can understand and process it. Starting from the current text-centered communication practices in healthcare and biomedical research, it addresses the state of the art in information extraction using natural language processing (NLP). An important aspect of the language-centered perspective of managing health data is the integration of heterogeneous data sources, employing different natural languages and different terminologies. This is where biomedical ontologies, in the sense of formal, interchangeable representations of types of domain entities come into play. The paper discusses the state of the art of biomedical ontologies, addresses their importance for standardization and interoperability and sheds light to current misconceptions and shortcomings. Finally, the paper points out next steps and possible synergies of both the field of NLP and the area of Applied Ontology and Semantic Web to foster data interoperability for 5 PM.

• Keywords
• biomedical semantics, electronic health records, formal ontologies, natural language processing, precision medicine, terminologies,
• Publication type
• Journal Article MeSH