ClinPGx Blog (Page 19)

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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

The Clobazam Pathway on the Cover of Pharmacogenetics and Genomics

One of our newest pathways, the Clobazam Pathway, Pharmacokinetics, is featured on the cover of the April issue of the journal Pharmacogenetics and Genomics. PharmGKB Scientific Curator Dr. Rachel Huddart is the first author on this pathway. Clobazam is a benzodiazepine and is used primarily as an anti-epileptic. The primary

Curator's Favorite Papers

Genetics has been shown to have a profound effect on response to treatment in patients with major depressive disorder (MDD) and may account for as much as 42% of the variability in treatment response, according to some studies. In addition, personality traits, as defined by “the Big-Five" (openness, conscientiousness,

PharmVar Launches CYP2D6, CYP2C9 and CYP2C19 Interactive DB

PharmVar has launched its interactive database for CYP2D6, CYP2C9 and CYP2C19. One cool feature is the ability to now easily find the position of each SNP on different reference sequences. The user can now also choose to count from the beginning of a sequence or the ATG start codon. And

PharmGKB FAQs: How do I read a clinical annotation?

Clinical annotations are written to summarize associations between variants and drug response and are based on annotations of published literature. As an example, please refer to this clinical annotation for rs4149056 in the gene SLCO1B1 and the drug simvastatin. Clinical annotations consist of 3 main parts: 1. Genotype/diplotype-based summaries

RIP Stephen Hawking

"However difficult life may seem, there is always something you can do and succeed at. It matters that you don't just give up." - Stephen Hawking Rest in peace.