Evaluating the Quality and Interoperability of Biomedical Terminologies.

Bodenreider O

Technical Report to the LHNCBC Board of Scientific Counselors April 2018.


Biomedical terminologies and ontologies are enabling resources for clinical decision support systems anddata integration systems for translational research and health analytics. Therefore, the quality of these resourceshas a direct impact on healthcare and biomedical research. In the past decade, quality assurance(QA) of biomedical terminologies has become a key issue in the development of standard terminologiesand has emerged as an active field of research. Approaches to quality assurance include the use of lexical,structural and semantic techniques applied to biomedical terminologies, as well as techniques for comparingand contrasting these resources. As part of the Medical Ontology Research project, we have explored quality assurance and interoperabilityissues in a variety of biomedical terminologies including drug terminologies, clinical terminologies,and specialized terminologies, such as HPO – the Human Phenotype Ontology and the Orphanet terminologyfor rare diseases. In this report, we review 32 investigations performed in our research group sincethis project was last reviewed by the BSC in 2010. About half of these investigations have a primary focuson quality assurance, for which we developed novel methods. In the other half, we applied existingtechniques to assess interoperability among terminologies or some aspect of quality (e.g., coverage) in aterminology. In our work, we put special emphasis on the development of principled, automated, scalablemethods, applied systematically to the entire content of a terminology by independent researchers, as opposedto manual review of subsets by domain experts. The QA processes we developed have proved effective in identifying a limited number of errors that haddefeated the quality assurance mechanisms in place in terminology development systems. We have sharedour findings and techniques with the scientific community through scientific publications and presentationsat conferences. Whenever possible, we have also reported these issues to the developers of the biomedicalterminologies we investigated. This work is also a contribution to the LHC Training Program, since 21 of the 32 studies listed in this report(66%) have involved post-doctoral fellows or summer (graduate and undergraduate) students.

Bodenreider O. Evaluating the Quality and Interoperability of Biomedical Terminologies. 
Technical Report to the LHNCBC Board of Scientific Counselors April 2018.