The Pharmacogene Variation (PharmVar) Consortium just published the inaugural article of a gene-centered series of review papers in Clinical Pharmacology & Therapeutics.
The reviews are covering clinical relevance, genetic variability, allele frequencies and function, ethnic differences, gene nomenclature before and within PharmVar, curation efforts, particular gene-specific challenges, PharmVar features and tools with gene-specific examples, new variants defined by PharmVar, methods suitable for gene characterization and templates to report genotyping methods and translation into phenotype, and more.
The first Gene Review, accessible at Clinical Pharmacology & Therapeutics, provides a comprehensive overview and summary of CYP2D6 genetic variations, which impact the metabolism of numerous drugs and thus can impact drug efficacy and safety. The article also describes how the information provided by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Each review also provides a set of spreadsheets (Supplemental Materials which will also be available through the PharmVar and PharmGKB websites) to facilitate the reporting of genotyping methods as well as allele and genotype frequencies. Adopting these templates will not only make it easier for authors, but also for PharmGKB curators to retrieve published information.