Integration of Disease Specific Clinical and Genomics Datasets using I2B2 Framework

The availability of a patient's genomic profile along with the clinical profile for providing individualized care and treatment is paving the road for a new era of personalized medicine, and is an important area of focus in current biomedical research. One of the prominent and globally implemented solutions for clinical and genomics data integration in biomedical research is an NIH funded NCBC initiative--Informatics for Integrating Biology and the Beside (I2B2). This paper presents the development of a pilot prototype for integrating patient's clinical and genomics datasets using open source and scalable I2B2 Framework. It focuses on disease specific clinical data and genomic variants, when combined together can be used for informed decision making in clinical practices by healthcare professionals and for further investigations by biomedical researchers. The research was carried out using a case study of King Abdullah International Medical Research Center (KAIMRC) in collaboration with King Fahad National Guard Hospital (KFNGH).