Pharmacogenomics (PGx) is an integral part of precision medicine and contributes to the maximization of drug efficacy and reduction of adverse drug event risk. Accurate information on PGx allele frequencies improves the implementation of PGx. We plan to use the resources available with our tool PharmCAT (Pharmacogenomics Clinical Annotation Tool) to extract variants specified in guidelines from a genetic data set derived from sequencing or genotyping technologies, infer the haplotypes and diplotypes, and generate a report containing genotype/diplotype-based annotations and guideline recommendations. The results of these analyses feed directly in our other efforts (PharmGKB: Pharmacogenomics Knowledgebase and CPIC: Clinical Pharmacogenetics Implementation Consortium) which aggregate, integrate and disseminate PGx knowledge and develop and dissemination clinical dosing guidelines which are used world-wide. The ability to identify rare variants and link them to our understanding of the relationship between genotype, environmental factors, and drug response is critical. Additionally, what we currently believe to rare variation, may in fact, not be rare across specific populations. Biobanks with phenotype and drug information are critical to understanding the frequencies of these variants across differing biogeographical groups. Our work will lead to improved understanding of the contributions of drugs to disease progression and will also generate hypotheses about effective treatments.
