ClinPGx Blog (Page 17)

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CYP2D6 genotype to phenotype standardization project - seeking feedback

The assignment of the CYP2D6 metabolizer phenotype based on a subject's genotype is an important aspect of clinical implementation of pharmacogenetics knowledge. Especially for CYP2D6, the genotype-inferred phenotypes vary across laboratories and guidelines. The goal of the CYP2D6 genotype to phenotype standardization project is to harmonize this translation.

NHGRI/NCI survey on genomics education

The National Human Genome Research Institute (NHGRI), who are supportive of PharmGKB and CPIC, have teamed up with the National Cancer Institute (NCI) to survey research and healthcare professionals about genomics education. The results of this survey will help to determine the resource and training priorities for future genomics education.

PharmGKB Demo at U-PGx Summer School

PharmGKB recently held a demonstration of the PharmGKB website as part of the U-PGx Summer School in Bonn, Germany. Scientists, clinicians and pharmacists attending the summer school heard from Dr. Rachel Huddart, one of our Scientific Curators, and were introduced to the various types of information found on the PharmGKB

Changes to the PharmGKB data licensing, downloads and user accounts

PharmGKB is changing its licensing policy in order to simplify access to files containing annotations and relationships. All of PharmGKB, including these files, are now licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. Users who download or use PharmGKB annotations, knowledge, files, images or screen shots agree to

New PharmGKB pathways for ondansetron and tropisetron

Ondansetron and tropisetron are 5-HT3 receptor antagonists used to treat nausea and vomiting and are commonly prescribed to patients who have undergone surgery or who are receiving chemotherapy. They are both covered by a CPIC guideline which can be accessed on the CPIC website.PharmGKB has released two new pathways

Curators' Favorite Papers

The growing number of individuals using direct to consumer (DTC) genetic tests has also led to an increase in physicians counseling patients on their results. In an effort to reveal the perspectives of physicians who receive these “unsolicited genomic results” (UGR), the Electronic Medical Records and Genomics (eMERGE) Network has

Curators' Favorite Papers

A critical component of pharmacogenetic/pharmacogenomics (PGx) implementation into clinical care is the integration of PGx data in clinical decision support (CDS) and electronic health records (EHRs). A new article in the journal Human Molecular Genetics (Genomics and electronic health record systems) discusses the benefits of, and current challenges to,

New PharmVar Downloads

PharmVar is delighted to announce a new feature that just went live! Variants of genes in the PharmVar database can now be downloaded in sequence (FASTA and VCF) and table (TSV) formats. Options include to the download variants of interest, all variants of a gene or the entire PharmVar database.

Dr. Francis Collins discusses All of Us on CBS This Morning

The National Institutes of Health (NIH) director Dr. Francis Collins appeared on CBS This Morning to promote the All of Us program, a part of the Precision Medicine Initiative, which launches this Sunday, May 6th. When asked about what it hopes to accomplish, he explained:“Do you ever feel when

Curators' Favorite Papers

The first paper comes from the journal Pharmacogenomics (Clinical pharmacogenetics: how do we ensure a favorable future for patients?) and it discusses the factors that have impeded the implementation of pharmacogenomic (PGx) testing into routine clinical care. Randomized clinical trials (RCT) are the current gold-standard for clinical research for new