Clinical Pharmacology & Therapeutics - Evidence Required to Demonstrate Clinical Utility of Pharmacogenetic Testing: The Debate Continues

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Clinical Pharmacology & Therapeutics - Evidence Required to Demonstrate Clinical Utility of Pharmacogenetic Testing: The Debate Continues

Clinical Pharmacology & Therapeutics (2014); 96 6, 655–657. doi:10.1038/clpt.2014.185

Evidence Required to Demonstrate Clinical Utility of Pharmacogenetic Testing: The Debate Continues

N K Gillis¹ and F Innocenti^1,2

1. ¹Center for Pharmacogenomics and Individualized Therapy, Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, North Carolina, USA
2. ²Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA

Correspondence: F Innocenti, (innocent@email.unc.edu)

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Abstract

Pharmacogenetics is an area of research that has potential to greatly benefit patients. However, the routine use of diagnostic pharmacogenetic testing to inform treatment decisions is limited. Here we discuss the determination of clinical utility of pharmacogenetic testing and the level of evidence required to support translation into clinical practice.

Prerequisites and definitions

Advances in the field of genomics are opening unprecedented opportunities to revolutionize the practice of medicine. One area where genomic medicine might have a more immediate impact is pharmacogenetics. The application of genetic information to individualize drug therapy has been referred to as one of the four “low-hanging fruits” for genomic uptake into the clinic by Eric Green, director of the National Human Genome Research Institute.¹ More than 150,000 published papers document thousands of biomarkers proposed to be clinically useful, but only around 100 biomarkers are used in the clinic.² Approximately 150 US Food and Drug Administration (FDA)–approved drugs include pharmacogenetic