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JRSM Cardiovasc Dis. 2012 Apr 5;1(1). pii: cvd.2012.012001. doi: 10.1258/cvd.2012.012001.

Promises and challenges of pharmacogenetics: an overview of study design, methodological and statistical issues.

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Population Health Research Institute, Hamilton Health Sciences, McMaster University , Hamilton, Ontario L8L 2X2 , Canada.


Pharmacogenetics is the study of inherited variation in drug response. The goal of pharmacogenetics is to develop novel ways of maximizing drug efficacy and minimizing toxicity for individual patients. Personalized medicine has the potential to allow for a patient's genetic information to predict optimal dosage for a drug with a narrow therapeutic index, to select the most appropriate pharmacological agent for a given patient and to develop cost-effective treatments. Although there is supporting evidence in favour of pharmacogenetics, its adoption in clinical practice has been slow because of sometimes conflicting findings among studies. This failure to replicate findings may result from a lack of high-quality pharmacogenetic studies, as well as unresolved methodological and statistical issues. The objective of this review is to discuss the benefits of incorporating pharmacogenetics into clinical practice. We will also address outstanding methodological and statistical issues that may lead to heterogeneity among reported pharmacogenetic studies and how they may be addressed.

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