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R T U New York State Center of Excellence in Bioinformatics & Life Sciences Bioinformatics and Technology Applications in Medication Management. Ontology: background and application to Medication Management Buffalo, NY, USA, June 13th, 2008 Werner CEUSTERS, MD Center of Excellence in Bioinformatics and Life Sciences, and National Center for Biomedical Ontology, University at Buffalo, NY, USA R T U New York State Center of Excellence in Bioinformatics & Life Sciences ‘Ontology’ is popular ‘Ontology’ in Buffalo is famous R T U New York State Center of Excellence in Bioinformatics & Life Sciences ‘Ontology’: one word, two meanings • In philosophy: – Ontology (no plural) is the study of what entities exist and how they relate to each other; • In computer science and (biomedical informatics) applications: – An ontology (plural: ontologies) is a shared and agreed upon conceptualization of a domain; • Our ‘realist’ view within the Ontology Research Group combines the two: – We use realism, a specific theory of ontology, as the basis for building high quality ontologies, using reality as benchmark. R T U New York State Center of Excellence in Bioinformatics & Life Sciences Realism-based ontology • Basic assumptions: 1. reality exists objectively in itself, i.e. independent of the perceptions or beliefs of cognitive beings; 2. reality, including its structure, is accessible to us, and can be discovered through (scientific) research; 3. the quality of an ontology is at least determined by the accuracy with which its structure mimics the pre-existing structure of reality. R T U New York State Center of Excellence in Bioinformatics & Life Sciences Three major views on reality Realism • Basic questions: – What does a general term such as ‘clinical drug’ refer to? – Do generic things exist? Conceptualism Nominalism Universal Concept Collection of particulars yes: in particulars perhaps: in minds no R T U New York State Center of Excellence in Bioinformatics & Life Sciences Dominant view in computer science is conceptualism Realism • Basic questions: – What does a general term such as ‘tree’ refer to? – Do generic things exist? Conceptualism Nominalism Universal Concept Collection of particulars yes: in particulars perhaps: in minds no R T U New York State Center of Excellence in Bioinformatics & Life Sciences Dominant view in computer science is conceptualism Realism Conceptualism Nominalism concept Embedded in Terminology Semantic Triangle object term R T U New York State Center of Excellence in Bioinformatics & Life Sciences ‘Terminology’: one word, two meanings • Terminology is the study of identifying and labelling ‘concepts’ pertaining to a subject field. • Terminology related activities: – analysing the concepts and concept structures, – identifying the terms assigned to the concepts, – establishing correspondences between terms, possibly in various languages, – compiling a terminology, on paper or in databases, – managing terminology databases, – creating new terms, as required. R T U New York State Center of Excellence in Bioinformatics & Life Sciences However … • Terminology: – solves certain issues related to language use, i.e. with respect to how we talk about entities in reality (if any); • Relations between terms / concepts – does not provide an adequate means to represent independent of use what we talk about, i.e. how reality is structured; • Women, Fire and Dangerous Things (Lakoff). • Ontology (of the right sort): – Language and perception neutral view on reality. • Relations between entities in first-order reality This is the ‘terminology / ontology divide’ R T U New York State Center of Excellence in Bioinformatics & Life Sciences The semantic triangle revisited Representation and Reference concepts concepts terms about objects terms First Order Reality R T U New York State Center of Excellence in Bioinformatics & Life Sciences Terminology Realist Ontology Representation and Reference terms concepts representational units about objects universals First Order Reality particulars R T U New York State Center of Excellence in Bioinformatics & Life Sciences Terminology Realist Ontology Representation and Reference terms concepts representational units about objects universals First Order Reality particulars R T U New York State Center of Excellence in Bioinformatics & Life Sciences Terminology Realist Ontology Representation and Reference representational units terms concepts cognitive units communicative units about objects universals First Order Reality particulars R T U New York State Center of Excellence in Bioinformatics & Life Sciences Three Terminology levels of reality in Realist Ontology Representation and Reference representational units (3) Representational units in various forms about (1), (2) or (3) cognitive units communicative units universals particulars (2) Cognitive entities which are our beliefs about (1) (1) Entities with objective existence which are not about anything First Order Reality R T U New York State Center of Excellence in Bioinformatics & Life Sciences The three levels applied to medication management Generic 3. Representation 2. Beliefs (knowledge) 1. First-order reality ‘person’ ‘drug’ ‘penicillin’ CONTRA-INDICATION INDICATION PATHOLOGICAL STRUCTURE DRUG MOLECULE Specific ‘W. Ceusters’ ‘my pneumonia’ my doctor’s work plan my doctor PERSON DISEASE PORTION OF PENICILLIN me my doctor’s diagnosis my pharmacist’s computer my bronchitis my toxic reaction to penicillin R T U New York State Center of Excellence in Bioinformatics & Life Sciences Terminology is too reductionist Generic 3. Representation 2. Beliefs (knowledge) 1. First-order reality ‘person’ ‘drug’ ‘penicillin’ CONTRA-INDICATION INDICATION PATHOLOGICAL STRUCTURE DRUG MOLECULE Specific ‘W. Ceusters’ ‘my pneumonia’ my doctor’s work plan my doctor PERSON DISEASE PORTION OF PENICILLIN me my doctor’s diagnosis my pharmacist’s computer my bronchitis my toxic reaction to penicillin R T U New York State Center of Excellence in Bioinformatics & Life Sciences Terminology is too reductionist What concepts do we need? How do we name concepts properly? R T U New York State Center of Excellence in Bioinformatics & Life Sciences Terminological versus Ontological approach • The terminologist defines: – ‘a clinical drug is a pharmaceutical product given to (or taken by) a patient with a therapeutic or diagnostic intent’. (RxNorm) • The ontologist thinks: – Does ‘given’ includes ‘prescribed’? – Is manufactured with the intent to … not sufficient? • Are newly marketed products – available in the pharmacy, but not yet prescribed – not clinical drugs? • Are products stolen from a pharmacy not clinical drugs? • What about such products taken by persons that are not patients? – e.g. children mistaking tablets for candies. R T U New York State Center of Excellence in Bioinformatics & Life Sciences Why is this important ? • Not as much for humans: – Our ‘minds’ are very good in resolving ambiguities, even at ‘unconscious’ levels. • But for machines (computers, software): – They can’t deal with imprecise, vague or ambiguous statements. R T U New York State Center of Excellence in Bioinformatics & Life Sciences The power of realism in ontology design Reality as benchmark ! 1. Is the scientific ‘state of the art’ consistent with biomedical reality ? R T U New York State Center of Excellence in Bioinformatics & Life Sciences The power of realism in ontology design Reality as benchmark ! 2. Is my doctor’s knowledge up to date? R T U New York State Center of Excellence in Bioinformatics & Life Sciences The power of realism in ontology design Reality as benchmark ! 3. Does my doctor have an accurate assessment of my health status? R T U New York State Center of Excellence in Bioinformatics & Life Sciences The power of realism in ontology design Reality as benchmark ! 4. How can we use case studies better to advance the state of the art? R T U New York State Center of Excellence in Bioinformatics & Life Sciences The power of realism in ontology design Reality as benchmark ! 5. Is our terminology rich enough to communicate about all three levels? R T U New York State Center of Excellence in Bioinformatics & Life Sciences In summary • Medication management involves many actors and IT systems: semantic interoperability is thus a key issue. • Ontologies (of the right sort) provide a deep level of semantic interoperability between IT systems, thereby keeping track: – of what is the case; – of what is known by some actor(s); – of what has been and still needs to be done. • Realism-based ontology, as a discipline, helps in creating ontologies of the right sort.