ClinPGx Blog (Page 13)

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PharmGKB and CPIC support H.R. 3235 (updated 1/27/20)

PharmGKB and CPIC have signed up as supporters of H.R. 3235, the ‘Access to Genetic Counselor Services Act’. This bill would improve access to genetic counseling for Medicare beneficiaries by recognizing genetic counselors as independent healthcare providers who can be reimbursed for their services. Dr. Teri Klein, co-PI of

PharmGKB papers in the February 2020 issue of Pharmacogenetics and Genomics

The February 2020 issue of Pharmacogenetics and Genomics has a PharmGKB double feature, with the publication of our sertraline pathway and our VIP summary for CACNA1S.The sertraline pharmacokinetic pathway, written by Scientific Curator Dr. Rachel Huddart and collaborators, is featured on the cover of the journal. Sertraline is a

CPIC launches second Term Standardization project – seeking PGx experts

CPIC leadership has put out a call for gene experts to participate in the second CPIC Term Standardization project, which will begin in early 2020.This project continues the work of the first term standardization effort in 2016, where standardized terms for pharmacogenetic (PGx) allele function and associated phenotypes were

Call for clarification on antidepressant pharmacogenomics

A new Perspective in Clinical Pharmacology and Therapeutics outlines the need for improved communication from pharmacogenomic testing companies and regulators on the role of pharmacogenomics in antidepressant therapy.Beginning antidepressant treatment can be an arduous experience for patients. Some patients fail to respond to first-line antidepressants, leading to an iterative

CYP2D6 Genotype to Phenotype Standardization Project results published

The consensus of the CYP2D6 Genotype to Phenotype Standardization Project is just published in Clinical and Translational Science. To address inconsistencies in the translation of CYP2D6 genotype to phenotype across guidelines (i.e. Clinical Pharmacogenetics Implementation Consortium (CPIC) and Dutch Pharmacogenetics Working Group (DPWG)) and between clinical genetic testing laboratories,

Characterization of CYP2D6 reference materials by GeT-RM

The CDC-based Genetic Testing Reference Material Coordination Program (GeT-RM) has published an extended panel of Coriell samples with CYP2D6 genotype information. Not only have the existing 137 samples been extensively re-tested on different platforms, selected samples have also been sequenced to determine the haplotype of novel or rare allelic variants

Annotated Swissmedic Drug labels now available on PharmGKB

PharmGKB now has annotated drug labels available from the Swiss Agency of Therapeutic Products (Swissmedic), a regulatory authority responsible for the authorization and supervision of therapeutic products in Switzerland. The Swissmedic drug label annotations are sourced through a collaboration with the Pharmaceutical Care Research Group (PCRG), Department of Pharmaceutical Sciences,

Public comment period for CPIC allele function assignment SOP

CPIC is inviting public comments on their draft SOP for assigning function to pharmacogenomic alleles.CPIC has been assigning “function” to pharmacogenomic alleles since its inception. This has already led to a Delphi process and consensus publication on standardizing terms used for allele function and pharmacogenetic phenotypes for some genes.

PharmGKB releases automated annotations

We are excited to announce that automated annotations of pharmacogenomic information in the scientific literature are now available from PharmGKB. These annotations have been produced using the PGxMine project, the result of a collaboration with Dr. Jake Lever at Stanford University.PGxMine uses a supervised machine learning algorithm to carry

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