CYP2D6 Gene Review by PharmVar published in CPT

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.

ACLA writes to the FDA about PGx testing

The American Clinical Laboratory Association (ACLA) has written a letter to the US Food and Drug Administration (FDA) regarding the FDA’s recent communications about pharmacogenomic (PGx) testing. The letter details the ACLA’s concerns that the FDA’s actions will have a significant impact on both patients and the field of PGx. The ACLA state their support for a legislative framework specifically for laboratory diagnostic tests (LDTs) and request a meeting with FDA leadership to discuss the matter further. You can read the full letter at the ACLA website.

Similarly, the Association of Molecular Pathology (AMP) has released a position statement on PGx testing, discussing the role of PGx in the precision medicine era and the standards which AMP believes that PGx tests should be held to. The full statement can be accessed at the AMP website.

Michelle Whirl-Carrillo -- Director of the PharmGKB!

We are happy to announce that Dr. Michelle Whirl-Carrillo has agreed to take on the position of Director of PharmGKB. Michelle has worked with the PharmGKB for over 15 years (not including a 1.5 year “sabbatical” at 23andme). She has served as lead curator, Assistant Director, and (since 2014) Associate Director. The PharmGKB grant has recently been renewed and Michelle has been named Director, effective at the start of September. Michelle has her undergraduate degree in Biology from MIT, and a PhD (working with Russ)in Biophysics from Stanford. Congratulations to Michelle and thanks for her willingness to help lead the PharmGKB into its 3rd decade! Teri and Russ (Co-PIs)