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CPIC seeks feedback for MT-RNR1 terminology

We announced last December that the Clinical Pharmacogenetics Implementation Consortium (CPIC) was launching its Term Standardization Pharmacogenetic Test Results - Part 2 project. The project is currently focused on MT-RNR1, as that guideline wraps up. The MT-RNR1 Gene/Disease and PGx expert panels have agreed on terminology for MT-RNR1 and

Rollout of genotype picker tool on DPWG guideline annotations

The allele pull-down menu (also known as the genotype-picker tool) on PharmGKB annotations of CPIC guidelines is an extremely popular feature among users. We are pleased to now expand this functionality to annotations of guidelines from the Royal Dutch Association for the Advancement of Pharmacy - Pharmacogenetics Working Group (DPWG)

CYP3A4 now available in PharmVar

PharmVar and PharmGKB are excited to announce that CYP3A4 has been transitioned into the PharmVar database. Check it out here. Numerous changes and revisions have been made during an extensive curation process including limiting the upstream and downstream regions used for allele definitions and the removal of introns of unknown

PharmGKB introduces scoring system for variant and clinical annotations and updated Levels of Evidence

Since their introduction in 2010, clinical annotations have become one of the most popular features of PharmGKB. Each clinical annotation summarizes a phenotypic association between a drug and genetic variant, shows relevant findings from the curated literature as variant annotations and is assigned a level of evidence to indicate the

Two new pathways released: Allopurinol Pharmacokinetics and Pimozide Pharmacokinetics.

Allopurinol is a purine analogue used in the treatment of gout. This drug has a level A CPIC Guideline for allopurinol and HLA-B. The new pathway shows the candidate genes and metabolites involved in Allopurinol Pharmacokinetics.Pimozide is a typical antipsychotic FDA approved for treatment of Tourette’s disorder. The

Milestones in Payer Coverage Set to Expand Pharmacogenomic Testing

A new perspective just out in Genetics in Medicine describes the improvements in the US payer landscape for pharmacogenomics test reimbursement from this past summer and their implications for the field moving forward. The Medicare Administrative Contractors (MACs) participating in the Molecular Diagnostic Services (MolDx) program released their final local

PharmGKB and CPIC curated information displayed on ClinGen

PharmGKB and CPIC partnered with ClinGen last summer to bring curated pharmacogenomics (PGx) to the resource which defines the clinical relevance of genes and variants in the human genome. A new Pharmacogenomics column has been added to ClinGen's curated gene categories. 130 PGx genes curated by PharmGKB and/

Plavix manufacturers to pay $834 million to state of Hawaii

Bristol-Myers Squibb Co and Sanofi, the manufacturers of Plavix (clopidogrel) have been ordered to pay over $834 million to the state of Hawaii after failing to warn about the drug’s potential health risks to patients with combinations of CYP2C19 variants which result in a CYP2C19 poor metabolizer status.Clopidogrel

HGVS annotations now available on PharmVar

We are excited to share that PharmVar is now providing HGVS annotations in addition to their more traditional annotations. To accommodate different styles, the Variation Window has been redesigned. Clicking on any SNV on a PharmVar gene page will activate the variation window. The example shown below is for the

Update to FDA-approved drug label annotations

In February 2020, we blogged about the FDA's newly released Table of Pharmacogenetic Associations. Since then, there has been much interest in understanding how that table was created, how it compares to the information on the drug labels, and how it compares to the FDA's Table