Literature DB >> 24598717

Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype.

J P Clancy1, S G Johnson2, S W Yee3, E M McDonagh4, K E Caudle5, T E Klein4, M Cannavo5, K M Giacomini3.   

Abstract

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

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Year:  2014        PMID： 24598717      PMCID： PMC4026598          DOI： 10.1038/clpt.2014.54

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN： 0009-9236            Impact factor:   6.875


  40 in total

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Journal:  PLoS One       Date:  2012-06-29       Impact factor: 3.240

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Journal:  Nature       Date:  2012-07-04       Impact factor: 49.962
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Review 3.  Genomic architecture of pharmacological efficacy and adverse events.

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6.  PharmGKB summary: very important pharmacogene information for CFTR.

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Review 7.  The Clinical Pharmacogenetics Implementation Consortium: 10 Years Later.

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Review 8.  Comparison of the Guidelines of the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group.

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Journal:  Clin Pharmacol Ther       Date:  2017-10-10       Impact factor: 6.875

9.  Comparison of genome sequencing and clinical genotyping for pharmacogenes.

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Review 10.  Implementation and utilization of genetic testing in personalized medicine.

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