Lack of standardization in gene nomenclature systems and inconsistencies between laboratory reports of genetic test results have been identified as significant barriers to the implementation of (PGx) information in the clinic. PharmGKB members Teri Klein, Katrin Sangkuhl, and Michelle Whirl-Carrillo were part of an international workgroup of pharmacogenomic (PGx) experts that was organized by the Centers for Disease Control and Prevention (CDC) to make recommendations for the description and reporting of variants in PGx relevant genes. The workgroup consensus recommendations include standardizing PGx gene nomenclature by utilizing widely accepted nomenclature systems (e.g. use of HGNC gene symbols, HGVS nomenclature), as well as standardizing clinical reporting of genetic test results and genetic test descriptions (e.g. listing the variants that were observed in the test, and a publicly available description of the test). These recommendations were recently published in Clinical Pharmacology and Therapeutics.
Read the recommendations below:
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