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Review
. 2016 Dec 1;73(23):1977-1985.
doi: 10.2146/ajhp150977.

Evidence and resources to implement pharmacogenetic knowledge for precision medicine

Kelly E Caudle  1 , Roseann S Gammal  2   3 , Michelle Whirl-Carrillo  4 , James M Hoffman  2 , Mary V Relling  2 , Teri E Klein  4
Affiliations
Review

Evidence and resources to implement pharmacogenetic knowledge for precision medicine

Kelly E Caudle et al. Am J Health Syst Pharm. .

Abstract

Purpose: The current state of pharmacogenetic data curation and dissemination is described, and evidence-based resources for applying pharmacogenetic data in clinical practice are reviewed.

Summary: Implementation of pharmacogenetics in clinical practice has been relatively slow despite substantial scientific progress in understanding linkages between genetic variation and variability of drug response and effect. One factor that has inhibited the adoption of genetic data to guide medication use is a lack of knowledge of how to translate genetic test results into clinical action based on currently available evidence. Other implementation challenges include controversy over selection of appropriate evidentiary thresholds for routine clinical implementation of pharmacogenetic data and the difficulty of compiling scientific data to support clinical recommendations given that large randomized controlled trials to demonstrate the utility of pharmacogenetic testing are not feasible or are not considered necessary to establish clinical utility. Organizations such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Pharmacogenomics Knowledgebase (PharmGKB) systematically evaluate emerging evidence of pharmacogenomic linkages and publish evidence-based prescribing recommendations to inform clinical practice. Both CPIC and PharmGKB provide online resources that facilitate the interpretation of genetic test results and provide prescribing recommendations for specific gene-drug pairs.

Conclusion: Resources provided by organizations such as CPIC and PharmGKB, which use standardized approaches to evaluate the literature and provide clinical guidance for a growing number of gene-drug pairs, are essential for the implementation of pharmacogenetics into routine clinical practice.

Keywords: CPIC; PharmGKB; evidence; guideline; pharmacogenetics; pharmacogenomics; precision medicine.

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Figures

Figure 1
Figure 1. Initial prioritization considerations for new gene/drug groups
Used with permission from PharmGKB. PharmGKB® is a registered trademark of the U.S. Department of Health and Human Services and is financially supported by NIH/NIGMS. It is managed at Stanford University.
See this image and copyright information in PMC

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