GT2RDF: Semantic Representation of Genetic Testing Data

Accelerated by the Human Genome Project, genetic testing has become an increasingly integral component in diagnosis, treatment, management, and prevention of numerous diseases and conditions. More than 480 laboratories perform genetic tests for more than 4,600 rare and common medical conditions. These tests can effectively help health professionals to determine or predict the genetic conditions of their patients. However, physicians have not actively incorporated such innovative genetic technology into their clinical practices according to two national wide surveys commissioned by UnitedHealth Group. To fill the gap of insufficient use of a large number of genetic tests, we generated a single Resource Description Framework (RDF) resource, called GT2RDF (Genetic Testing data to RDF) by integrating information about disease, gene, phenotype, genetic test, and drug from multiple sources including Genetic Testing Registry (GTR), Online Mendelian Inheritance in Man (OMIM), MedGen, Human Phenotype Ontology (HPO), ClinVar, National Drug File Reference Terminology (NDF-RT). Meanwhile, we manually annotated and extracted information from 200 randomly selected GeneReviews chapters, and integrated into the GT2RDF. We performed two case studies to demonstrate the usability of the GT2RDF. GT2RDF will serve as a data foundation to support the design of a genetic testing recommendation system, called iGenetics, which will ultimately facilitate the pace of precision medicine by means of actively and effectively incorporating innovative genetic technology in clinical settings. Abbreviations: GT2RDF: Genetic Testing data to RDF; SWT: Semantic web technology; OWL: Ontology Web Language; RDF: Resource Description Framework; SPARQL: SPARQL Protocol and RDF Query Language; GTR: Genetic Testing Registry; OMIM: Online Mendelian Inheritance in Man; HPO: Human Phenotype Ontology; NDF-RT: National Drug File Reference Terminology; UMLS: Unified Medical Language System.