The Ontological Lens: Zooming in and out from Genomic to Clinical Level

Ontology is the talk of the day in the medical informatics community. Its relevant role in the design and implementation of information systems in health care is now widely acknowledged. In this paper we present two case studies showing ontologies “at work” in the genomic domain and in the clinical context. First we show how ontologies and genomic controlled vocabularies can be effectively applied to help in a genomic approach towards the comprehension of fundamental biological processes and complex cellular patho-physiological mechanisms, and hence in biological knowledge mining and discovery. Subsequently, as far as the clinical context is concerned, we emphasize the relevance of ontologies in order to maintain semantic consistency of patient data in a continuity of care scenario. In conclusion we advocate that a deep analysis of the structure and the concepts present at different granular level – from genes to organs – is needed in order to bridge this different domains and to unify bio-medical knowledge in a single paradigm.