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Authors:
Elizabeth L. Black, MD, Blue Mountain Family Health, Clarkston, WA
Brian T. Hocum, PharmD, CGP, Adjunct Faculty Member, Washington State University College of Pharmacy, Spokane, WA; Regional Pharmacist Liaison, Genelex Corporation, Seattle, WA
Kevin J. Black, MAT, Clarkston, WA
Peer Reviewer:
Joseph Kitzmiller, MD, PhD, FCP, Colleges of Engineering and Medicine, Associate Director, Center for Pharmacogenomics Director, Clinical Pharmacology Fellowship, College of Medicine, The Ohio State University, Columbus, OH
Advancing technology has always challenged physicians in their practice of medicine. New research, techniques, and treatments can improve the prevention and management of disease, but not without confusion and occasional controversy. The addition of pharmacogenetic testing to the armamentarium of primary care providers (PCPs) presents just such a challenge.
Introduction
Pharmacogenetics and pharmacogenomics are very similar terms that often are used interchangeably. Authors tend to use pharmacogenomics when discussing broader research about the relationship between the genome and pharmacotherapy, such as in genome wide association studies (GWAS). Pharmacogenomics usually applies to a population. On the other hand, pharmacogenetics more often is used when talking about specific genes and their influence on specific drugs. An example of this would be the study of how cytochrome P450 2C9 (CYP2C9) and VKORC1 polymorphisms affect warfarin pharmacokinetics and pharmacodynamics.1 Pharmacogenetics deals with individuals. This article will distinguish the two terms and will focus on pharmacogenetics, which will hereafter be abbreviated, PGx.
Pharmaceutical management is becoming the standard of care for many medical conditions. Many evidence-based standards for quality in the treatment of certain disease states support the introduction of particular drug therapies in the presence of known diagnoses. Even if specific medications or classes of medications are not defined by quality standards, defined management goals may not be achieved without medication.
The rationale for promoting evidence-based standards is clear to most physicians, although the benefit of such programs is debated. Research presents convincing evidence that the risks of many disease states are significantly reduced by the introduction of pharmaceutical agents and adherence to treatment goals. However, these drugs do not come without their own risks.
Many management recommendations are drawn from well-designed studies, but these focus on results in broad populations rather than individuals. Medications shown to be effective in these studies may be less...