Molecular Dx Landmark-class

CPIC Guideline: G6PD Genotyping to Classify Medication-Induced Haemolysis Risk

This expanded CPIC guideline classifies medications previously flagged as unsafe in G6PD deficiency into high, medium, or low/no risk categories based on systematic evidence review. It also provides guidance on using G6PD genotype as part of deficiency diagnosis, replacing the earlier rasburicase-only guideline. For laboratories, this broadened scope significantly increases the clinical scenarios where G6PD genotyping results inform prescribing decisions across oncology, infectious disease, and rheumatology.

The original study

Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype.

Authors
Gammal RS, Pirmohamed M, Somogyi AA, Morris SA, Formea CM, Elchynski AL, et al.
Journal
Clinical pharmacology and therapeutics
Type
Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Practice Guideline
PMID
36049896
Read the original study →

Original abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with development of acute hemolytic anemia in the setting of oxidative stress, which can be caused by medication exposure. Regulatory agencies worldwide warn against the use of certain medications in persons with G6PD deficiency, but in many cases, this information is conflicting, and the clinical evidence is sparse. This guideline provides information on using G6PD genotype as part of the diagnosis of G6PD deficiency and classifies medications that have been previously implicated as unsafe in individuals with G6PD deficiency by one or more sources. We classify these medications as high, medium, or low to no risk based on a systematic review of the published evidence of the gene-drug associations and regulatory warnings. In patients with G6PD deficiency, high-risk medications should be avoided, medium-risk medications should be used with caution, and low-to-no risk medications can be used with standard precautions, without regard to G6PD phenotype. This new document replaces the prior Clinical Pharmacogenetics Implementation Consortium guideline for rasburicase therapy in the context of G6PD genotype (updates at: www.cpicpgx.org).