Translating pharmacogenomics discoveries into the clinic: an implementation framework

R Huang,Eric R Gamazon

doi:10.1186/gm497

Abstract

The implementation of pharmacogenomics-guided care has the potential to improve clinical outcomes; however, the adoption of pharmacogenomics into clinical practice remains slow. This is partly due to the lack of a standardized framework for translating key findings into diagnostic tests. A recent study describes a comprehensive system developed by the Coriell Personalized Medicine Collaborative for facilitating the translation of genomic findings into clinical practice, and its application for seven commonly prescribed drugs.See related Research paper, http://genomemedicine.com/content/5/10/93

Highlights

The implementation of pharmacogenomics-guided care has the potential to improve clinical outcomes; the adoption of pharmacogenomics into clinical practice remains slow
PhAESIS was developed by the Coriell Personalized Medicine Collaborative (CPMC) to guide the identification of genetic variants that are significantly associated with an elevated risk of adverse drug reactions; the ultimate goal is to translate pharmacogenomic findings into tailored therapy for patients
CPMC is not alone in its efforts to develop a system that converts the enormous number of published pharmacogenomic studies into clear and evidence-based therapeutic guidelines for clinical practice

Summary

Introduction

The implementation of pharmacogenomics-guided care has the potential to improve clinical outcomes; the adoption of pharmacogenomics into clinical practice remains slow. The PhAESIS framework PhAESIS is a multi-purpose framework that identifies genetic factors with sufficiently robust evidence for contributing to drug response and provides guidelines for translating such genotype information into therapeutic recommendations.

Results

Conclusion