Constructing a bio-health knowledge base for access via a standardized electronic health record prototype

Xia Jing
Laboratory for Informatics Development, Lister Hill National Center for Biomedical Communications, NLM, NIH, Bethesda, Maryland


Aim and Objectives: To explore the feasibility of accessing biological information and associated health information through a standards-based electronic health record. The objectives include constructing a condition specific knowledge base prototype, an EHR system prototype based on a standard record architecture, and an interface that connects the two. Methods: An ontology was constructed to organize biological and health information in a formal and structured way. Cystic fibrosis was selected as an exemplar condition and the Continuity of Care Record was selected for an EHR prototype application. The sequence variation information and health information in the knowledge base are presented through the EHR prototype’s interface and the results are evaluated. Results: A substantive knowledge base prototype of cystic fibrosis was constructed. The content includes the most common genetic mutations related to cystic fibrosis, time-oriented descriptions of cystic fibrosis, systematic review conclusions, and gene therapy for cystic fibrosis. The content is organized on both time and problem oriented axes. It was found to be possible to present bio-health information that was case-specific through the EHR prototype interface. Conclusions: Sequence variation information and associated health information can be made accessible through a standards-based electronic health record prototype. Complex knowledge can be accessed, to some extent automatically, thereby providing a starting point for integrating formal and structured biological information within health record systems which can be deployed in clinical settings