Disease Specific Ontology of Adverse Events: Ontology extension and adaptation for Chronic Kidney Disease

Abstract

BackgroundAdverse Event (AE) ontology can be used to support interoperability and computer-assisted reasoning of AEs. Despite significant progress in developing biomedical ontologies, they are facing the obstacle of adoption partly because those ontologies are too general to meet the requirements of a specific domain. Understanding and representing of AEs for a specific domain such as Chronic Kidney Disease (CKD) has both theoretical and clinical significance. CKD patients are at a high risk for an array of disease-intervention specific AEs, and these in turn can contribute to disease progression unlike other diseases. This study proposes Disease Specific Ontology of Adverse Events (DSOAE) to address specific requirements of CKD, and applies it to different usage scenarios with real data. MethodsWe introduce a method for developing DSOAE through the extension and adaption of general ontologies by incorporating domain-specific information and usage requirements. It starts with specifying the goal and scope of a target domain (i.e. selecting seed ontologies), followed by identifying main AE classes and relations, extracting and creating classes and relations, aligning and identifying upper-level classes and lower-level classes, and finally populating the ontology with instances. Any of these steps may be repeated to refine the ontology. ResultsDSOAE contains 22 CKD-specific AE classes, which are grouped into two general categories: patient-reported AEs and biochemical/laboratory-related AEs. In addition, disease history and comorbidity classes as introduced in this study help model patient-related risk factors for AEs. With the support of DSOAE, we build a knowledge base of CKD-specific AEs using data from different sources (e.g. patient cohort data and social media), and apply the knowledge base to data analysis and data integration. ConclusionsDSOAE enables the interoperability of AEs across different sources and supports the development of a knowledge base of domain-specific AEs. DSOAE can also meet the needs of different usage scenarios. The approach to constructing DSOAE is generalizable and can be used to develop AE ontology in other domains.