Pediatric PharmGKB User Survey

Similar to our PharmGKB user survey in October-November, we have launched a user survey to gather feedback about the use of our Pediatric PharmGKB website. All user responses are greatly appreciated; no matter who you are, where you are in the world or how many times you have used Pediatric PharmGKB. Again, the survey is split into two parts. The first section takes about a minute to complete. If you have time to give us some more information, the second section will take an additional few minutes. Thank you for your contribution.

CPIC® Guideline for Potent Volatile Anesthetic Agents and Succinylcholine and RYR1 and CACNA1S update

The ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel recently published recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility (PMID: 33767344). These revised ACMG/AMP criteria were applied to the 44 variants originally included in the CPIC recommendations (PMID: 30499100) and 29 variants were classified as pathogenic, 13 as likely pathogenic, and 2 as variants of uncertain significance. Based on this classification, the assignment for the variants c.1589G>A p.(Arg530His) and c.1598G>A p.(Arg533His) has been changed from “malignant hyperthermia-associated” to “uncertain function” in the RYR1 allele functionality table.

Information about the update has been added to the CPIC RYR1, CACNA1S and Volatile anesthetic agents and Succinylcholine guideline page and the PharmGKB annotation for this guideline.

Pathways in progress, a way to accelerate the pathways visible to users

Thanks to user feedback regarding the PharmGKB pathways, we understand that many of our pathways are used for teaching and presentations, and that users love the detailed figures. We are also aware that many users are interested in the underlying data -- what's on the components tab, the papers supporting pathway arrows and the downloadable gpml file -- for doing further work with expression data or drug drug interactions. The detailed figures are a time consuming part of the life cycle of getting a pathway from first encounter of a paper with evidence to available on the PharmGKB website. Many pathways, including those from CPIC level A gene-drug pairs, do not yet have sufficient complexity for publication in peer reviewed journals. PharmGKB will continue to publish pathways with a lot of underlying data and those that people are willing to co-author and develop a rich text review in a peer reviewed journal with the detailed illustration. We are releasing a new feature for pathways that are in progress that will contain only the components tab and figure from the gpml. This will allow us to complete pathway updates more quickly as new candidates are published, and for users to see what's in progress. Some pathways will ultimately have the publication quality figures whereas others may not depending on demand or evidence. This will allow for more pathways to be available more quickly. We look forward to hearing back from the PharmGKB community at feedback@pharmgkb.org.

Some examples to check out ...

In Progress: Cilostazol Pathway, Pharmacokinetics

In Progress: Febuxostat Pathway, Pharmacokinetics

In Progress: Paclitaxel Pathway, Pharmacokinetics

In Progress: Tamsulosin Pathway, Pharmacokinetics

In Progress: Ziprasidone Pathway, Pharmacokinetics

Survey of PharmGKB API usage

PharmGKB is wholly supported by NIH (NHGRI and NICHD). As we prepare for grant renewal, we are asking users of our API to provide us with 3-4 brief pieces of information to help us demonstrate the importance of our API to the global PGx community. If you use our API, please spend 1 minute filling out this survey.