Genomic Medicine Informatics
Advances in dna sequencing are enabling the practice of genomic medicine, the use of a patient’s genomic information to improve medical care. This new practice of medicine relies heavily on bioinformatics for the analysis of vast amounts of information, and creates significant data management and IT challenges. The Center for Pediatric Genomic Medicine at Children’s Mercy Hospital in Kansas City is one of a small number of genome sequencing centers integrated into clinical hospital practice and is a leader in the field of whole genome sequencing. This talk will give a brief overview of genome sequencing and its application to healthcare, with a focus on the compute infrastructure and novel software tools developed by the Center to meet the unique needs of a growing genome center. In addition, we’ll examine the coming challenges for the integration of whole genome sequence data into clinical information systems.