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announcement

A collection of 54 issues

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

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/

PharmGKB and CPIC Partner with ClinGen

PharmGKB and CPIC have formalized a partnership with ClinGen to bring pharmacogenomics (PGx) expertise to the primarily disease-focused, NIH-funded mega-resource. ClinGen's goals include defining the clinical relevance of genes and variants for use in precision medicine and research and disseminating that knowledge to the broader community. They have

Centralized presentation material repository now available from CPIC’s PGx Dissemination working group

The CPIC’s PGx Dissemination working group has developed a central repository for pharmacogenomic-related presentation materials. Now available on the PGRN website (https://www.pgrn.org/), users will find a resource link “discussion forum” at https://forum.pgrn.org/c/clinical-implementation/pgx-dissemination-materials/25. The discussion forum provides a medium to

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

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

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)

CYP2C19 testing may assist with prescribing sertraline and escitalopram

Mary Relling (St. Jude Children's Research Hospital) and I (Teri Klein) as Co-Principal Investigators of the Clinical Pharmacogenetics Implementation Consortium (CPIC) have been discussing the letter that the FDA recently sent to a genomics laboratory expressing concern that “providers may make inappropriate treatment decisions based” on pharmacogenetic testing

Major PharmVar update released

PharmVar has announced the release of a major update to www.pharmvar.org. Notable new features include a revised haplotype naming system, the introduction of unique haplotype IDs, a functional impact display next to causative SNVs in brackets and a revised allele (CYP2D6*14A is now *114). The new gene

CPIC grant awarded

The co-PIs of the Clinical Pharmacogenetics Implementation Consortium (CPIC), Drs. Mary Relling of St. Jude Children's Research Hospital (SJCRH) and Teri Klein of Stanford University, will receive $5 million over the next 5 years from the National Institutes of Health (NIH) to continue and expand the project. CPIC