Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for Ivacaftor Therapy in the Context ofCFTRGenotype

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Abstract

Cystic fibrosis (CF) is a life-shortening disease arising as a consequence of mutations within theCFTRgene. Novel therapeutics for CF are emerging that target CF transmembrane conductance regulator protein (CFTR) defects resulting from specificCFTRvariants. Ivacaftor is a drug that potentiates CFTR gating function and is specifically indicated for CF patients with a particularCFTRvariant,G551D-CFTR(rs75527207). Here, we provide therapeutic recommendations for ivacaftor based on preemptiveCFTRgenotype results.

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