The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number varian...

PURPOSE We examined whether the response predicted by a 30-gene pharmacogenomic test correlated with the residual cancer burden (RCB) after preoperative chemotherapy with paclitaxel, 5-fluorouracil, doxorubicin, and cyclophosphamide (T/FAC). EXPERIMENTAL DESIGN Gene expression profiling was done at diagnosis in 74 patients with stages I to III breast cancer and was used to calculate a pharmac...

The understanding of pharmacogenomics has greatly accelerated in the past decade. With the unraveling of the human genome, the ongoing HAPMAP project and the development of microarray single nucleotide polymorphism (SNP, pronounced “snip”) chips by Affymetrix® and Illumina®, the chore of associating genetic markers with drug reaction states has become a feasible and important project. With the ...

OBJECTIVE Variants of two genes, CYP2C9 and VKORC1, explain approximately one third of variability in warfarin maintenance dose requirements. However, the clinical utility of using this information in addition to clinical and demographic data ('pharmacogenomic-guidance') is unclear, as few comparative clinical trials have been conducted to date. The objective of this study was to explore the in...

Executive Summary This study aimed to evaluate the potential of pharmacogenomic science and technology (S&T) in Canada. In order to do so, the multiple scientific and ethical issues related to pharmacogenomic research were reviewed. Scientometric and technometric analyses were performed to provide a quantitative evaluation of Canada's performance in this field relative to that of the world and ...

There is great heterogeneity in drug treatment response that is thought to be due to individual-level allelic variation in pharmacogenomic biomarkers. FDA Drug Labels provide information to guide pharmacogenomic biomarker use. Yet, the strength of evidence for clinical validity and clinical utility is lacking. We characterized the strength of evidence and treatment recommendations contained in ...

BACKGROUND Interpopulation differences in drug responses are well documented, and in some cases they correspond to differences in the frequency of associated genetic markers. Understanding the diversity of genetic markers associated with drug response across different global populations is essential to infer population rates of drug response or risk for adverse drug reactions, and to guide impl...

Advances in pharmacogenetic analysis technology have accelerated the movement to incorporate pharmacogenetic analysis data into medicine. Therefore, pharmacists will soon have to provide guidance and raise pharmaceutical questions regarding prescriptions based on patient pharmacogenomic information. The objective of this study was to clarify Japanese pharmacists' awareness of pharmacogenetics. ...

Genetics may account for much of the variability in our patients' responses to drug therapies. This article offers the clinician an up-to-date overview of pharmacogenomic testing, discussing implications and limitations of emerging validated tests relevant to the use of warfarin (Coumadin), clopidogrel (Plavix), statins, tamoxifen (Nolvadex), codeine, and psychotropic drugs. It also discusses t...

A sizable fraction of patients experiences adverse drug events or lack of drug efficacy. A part of this variability in drug response can be explained by genetic differences between patients. However, pharmacogenomic data as well as computational clinical decision support systems for interpreting such data are still unavailable in most healthcare settings. We address this problem by introducing ...