NUDT15 update
With the recent Crohn’s Disease update, we have also updated the way our software processes NUDT15 genetic data. Previously, the software assessed reported genotypes for NUDT15 rs116855232. With this update, we now assess drug-gene interactions with NUDT15 based on phenotype (i.e. metabolizer status), which is consistent with CPIC guidelines and recommendations for this gene [1]. For example, a NUDT15 genotype result that was previously reported as rs116855232 T/T, will now be reported as a NUDT15 Poor Metabolizer. This change affects only the Crohn’s Disease and Ulcerative Colitis algorithms.
This update will not affect the software experience for the vast majority of users. For a very small number of patients, their NUDT15 phenotype may appear as Unknown in the software. The correct phenotype may be entered manually by the healthcare user in the Patient Profile, or within a relevant condition. Please contact GenXys if you need assistance with this function.
References
- Relling, M. et al. Clinical Pharmacogenetics Implementation Consortium Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2018 Update. Clinical Pharmacology & Therapeutics 105, 1095-1105 (2019).