Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for HLA-B Genotype and Carbamazepine Dosing

Human leukocyte antigen B (HLA-B) is a gene that encodes a cell surface protein involved in presenting antigens to the immune system. The variant allele HLA-B*15:02 is associated with an increased risk of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in response to carbamazepine treatment. We summarize evidence from the published literature supporting this association and provide recommendations for the use of carbamazepine based on HLA-B genotype (also available on PharmGKB: http://www.pharmgkb.org). The purpose of this article is to provide information to allow the interpretation of clinical HLA-B*15:02 genotype tests so that the results can be used to guide the use of carbamazepine. The guideline provides recommendations for the use of carbamazepine when HLA-B*15:02 genotype results are available.


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Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.

Pharmacist

  • Pharmacogenetics/Pharmacogenomics
    • P1:   To demonstrate an understanding of how genetic variation in a large number of proteins, including drug transporters, drug metabolizing enzymes, direct protein targets of drugs, and other proteins (e.g. signal transduction proteins) influence pharmacokinetics and pharmacodynamics related to pharmacologic effect and drug response
    • P2:   To understand the influence (or lack thereof) of ethnicity in genetic polymorphisms and associations of polymorphisms with drug response
    • P3:   Recognize the availability of evidence based guidelines that synthesize information relevant to genomic/pharmacogenomic tests and selection of drug therapy (e.g. Clinical Pharmacogenomics Implementation Consortium)