PharmCAT: A Pharmacogenomics Clinical Annotation Tool

Abstract

Implementation of genomic medicine into clinical care continues to increase in prevalence in medical centers worldwide. As defined by the National Human Genome Research Institute, “Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care.…” The genomic information utilized falls broadly into two categories: 1) highly penetrant genetic disorders and 2) pharmacogenomics. Herein, we focus on pharmacogenomics, although the Pharmacogenomics Clinical Annotation Tool (PharmCAT) tool could be extended to include other types of genetic variation.