Monday, March 20, 2023

CYP2D6 allele function update

The CYP2D6 allele functionality file has been re-evaluated and updated by experts involved in CYP2D6-related CPIC guidelines. CYP2D6 functions are now assigned up to star allele 163. 

Part of the re-evaluation focused on alleles that include 100C>T (P34S) (*10 key SNP). Furthermore, the activity value of several decreased function alleles, e.g. *9 and *41, was downgraded to 0.25. 

The updated file can be accessed through CYP2D6-related guidelines on the CPIC website and through the CYP2D6 resource page on PharmGKB. The updated functions are also displayed on the PharmVar CYP2D6 page .

Monday, March 13, 2023

ClinGen Pharmacogenomics Working Group (PGxWG) Follow-Up Survey

The ClinGen Pharmacogenomics Working Group (PGxWG) has just launched a second survey to solicit feedback about the criteria and terminology that should be used to define clinical validity and actionability for pharmacogenes and variants from both the PGx community and the wider genetics and medical communities. Please note that this second survey is not independent of the first, and if you’ve taken the previous survey and have significant PGx familiarity or expertise, there is no need to take this iteration, as it would be redundant due to the overlap in questions.

The ClinGen PGxWG is a multi-disciplinary team of researchers and professionals with expertise in pharmacogenomics (PGx), clinical pharmacology, medical genetics, regulatory affairs, and molecular diagnostics. It was launched in February 2022 with the goal of developing a framework of tiered standard terminology and definitions that reflect clinical significance for genes and genomic variants implicated in drug response, in order to facilitate the incorporation of PGx knowledge into ClinGen and more consistent interpretation of PGx variants identified by panel testing and/or sequencing.

The survey is open now and can be accessed at: All responses are greatly appreciated, no matter who you are or where you are in the world. Unlike the previous survey, this survey does not assume PGx familiarity, though if you have not taken the previous survey and have PGx familiarity, your feedback is still greatly appreciated. The survey takes approximately 15 minutes to complete. We sincerely appreciate your time and attention, and your willingness to help.