Pharmacogenomics Clinical Annotation Tool (PharmCAT). Issue 1 (17th September 2019)

• Record Type: Journal Article
• Authors: Sangkuhl, Katrin; Whirl‐Carrillo, Michelle; Whaley, Ryan M.; Woon, Mark; Lavertu, Adam; Altman, Russ B.; Carter, Lester; Verma, Anurag; Ritchie, Marylyn D.; Klein, Teri E.
• Is Part Of: Clinical pharmacology & therapeutics. Volume 107:Issue 1(2020)
• Page Start: 203
• Page End: 210
• Publication Date: 2019-09-17
• Subjects: Pharmacology -- Periodicals; Therapeutics -- Periodicals; 615.5
• DOI: 10.1002/cpt.1568
• Languages: English
• ISSNs: 0009-9236

Abstract

Abstract : Pharmacogenomics (PGx) decision support and return of results is an active area of precision medicine. One challenge of implementing PGx is extracting genomic variants and assigning haplotypes in order to apply prescribing recommendations and information from the Clinical Pharmacogenetics Implementation Consortium (CPIC), the US Food and Drug Administration (FDA), the Pharmacogenomics Knowledgebase (PharmGKB), etc. Pharmacogenomics Clinical Annotation Tool (PharmCAT) (i) extracts variants specified in guidelines from a genetic data set derived from sequencing or genotyping technologies, (ii) infers haplotypes and diplotypes, and (iii) generates a report containing genotype/diplotype‐based annotations and guideline recommendations. We describe PharmCAT and a pilot validation project comparing results for 1000 Genomes Project sequences of Coriell samples with corresponding Genetic Testing Reference Materials Coordination Program (GeT‐RM) sample characterization. PharmCAT was highly concordant with the GeT‐RM data. PharmCAT is available in GitHub to evaluate, test, and report results back to the community. As precision medicine becomes more prevalent, our ability to consistently, accurately, and clearly define and report PGx annotations and prescribing recommendations is critical.