Suhila Sawesi1,2, Mohamed Rashrash3, Olaf Dammann1,4,5. 1. Dept. of Health Informatics and Bioinformatics, Grand Valley State University, School of Computing, MI, USA. 2. Dept. of Public Health and Community Medicine, Tufts University School of Medicine, Boston, MA, USA. 3. Dept. of Pharmaceutical and Administrative Sciences, University of Charleston, School of Pharmacy, Charleston, WV, USA. 4. Dept. of Gynecology and Obstetrics, Hannover Medical School, Hannover, Germany. 5. Department of Neuromedicine and Movement Science, NTNU Norwegian University of Science and Technology, Trondheim, Norway.
Abstract
Objective: To explore how disease-related causality is formally represented in current ontologies and identify their potential limitations. Methods: We conducted a systematic literature search on eight databases (PubMed, Institute of Electrical and Electronic Engendering (IEEE Xplore), Association for Computing Machinery (ACM), Scopus, Web of Science databases, Ontobee, OBO Foundry, and Bioportal. We included studies published between January 1, 1970, and December 9, 2020, that formally represent the notions of causality and causation in the medical domain using ontology as a representational tool. Further inclusion criteria were publication in English and peer-reviewed journals or conference proceedings. Two authors (SS, RM) independently assessed study quality and performed content analysis using a modified validated extraction grid with pre-established categorization. Results: The search strategy led to a total of 8,501 potentially relevant papers, of which 50 met the inclusion criteria. Only 14 out of 50 (28%) specified the nature of causation, and only 7 (14%) included clear and non-circular natural language definitions. Although several theories of causality were mentioned, none of the articles offers a widely accepted conceptualization of how causation and causality can be formally represented. Conclusion: No current ontology captures the wealth of available concepts of causality. This provides an opportunity for the development of a formal ontology of causation/causality. This is an Open Access article. Authors own copyright of their articles appearing in the Journal of Public Health Informatics. Readers may copy articles without permission of the copyright owner(s), as long as the author and OJPHI are acknowledged in the copy and the copy is used for educational, not-for-profit purposes.
Objective: To explore how disease-related causality is formally represented in current ontologies and identify their potential limitations. Methods: We conducted a systematic literature search on eight databases (PubMed, Institute of Electrical and Electronic Engendering (IEEE Xplore), Association for Computing Machinery (ACM), Scopus, Web of Science databases, Ontobee, OBO Foundry, and Bioportal. We included studies published between January 1, 1970, and December 9, 2020, that formally represent the notions of causality and causation in the medical domain using ontology as a representational tool. Further inclusion criteria were publication in English and peer-reviewed journals or conference proceedings. Two authors (SS, RM) independently assessed study quality and performed content analysis using a modified validated extraction grid with pre-established categorization. Results: The search strategy led to a total of 8,501 potentially relevant papers, of which 50 met the inclusion criteria. Only 14 out of 50 (28%) specified the nature of causation, and only 7 (14%) included clear and non-circular natural language definitions. Although several theories of causality were mentioned, none of the articles offers a widely accepted conceptualization of how causation and causality can be formally represented. Conclusion: No current ontology captures the wealth of available concepts of causality. This provides an opportunity for the development of a formal ontology of causation/causality. This is an Open Access article. Authors own copyright of their articles appearing in the Journal of Public Health Informatics. Readers may copy articles without permission of the copyright owner(s), as long as the author and OJPHI are acknowledged in the copy and the copy is used for educational, not-for-profit purposes.
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