Principles of pharmacogenetics and pharmacogenomics pdf

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principles of pharmacogenetics and pharmacogenomics pdf

Principles of pharmacogenetics and pharmacogenomics — Indiana University School of Medicine

Pharmacogenetics has been defined as the study of variability in drug response due to heredity [ 1 ]. While the former term is largely used in relation to genes determining drug metabolism, the latter is a broader based term that encompasses all genes in the genome that may determine drug response [ 2 ]. The distinction however, is arbitrary and both terms can be used interchangeably. Over the last 12—18 months, a large number of articles have appeared on pharmacogenomics in various journals. This is because pharmacogenomics is viewed as a highly important area for improving drug therapy and prescribing in the future. Whether this promise is fulfilled and to what extent will only become evident with time. The history of pharmacogenetics stretches as far back as b.
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Pharmacogenetics and Pharmacogenomics What is it How do I measure it What does it mean to me

The study of pharmacogenetics and pharmacogenomics focuses on how our genes and complex gene systems influence our response to drugs. Recent progress in the science of clinical therapeutics has led to the discovery of new biomarkers that make it technically easier to identify groups of patients which are more or less likely to respond to individual therapies.

Principles of Pharmacogenetics and Pharmacogenomics

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Pharmacogenetics research looks at variations in the human genome and ways in which genetic factors might influence how individuals respond to drugs. The authors review basic principles of pharmacogenetics and cite findings from several gene-phenotype studies to illustrate possible associations between genetic variants, drug-related behaviors, and risk for drug dependence. Some gene variants affect responses to one drug; others, to various drugs. Pharmacogenetics can inform medication development and personalized treatment strategies; challenges lie along the pathway to its general use in clinical practice. Substance dependence is a complex psychiatric disorder that develops in response to a combination of environmental and genetic risk factors and drug-induced effects Ho et al. The strong genetic basis of dependence is supported by family, adoption, and twin studies, which demonstrate substantial heritability, estimated to be about 50 percent Uhl et al. The evidence suggests that no single variant accounts for a major portion of this risk, but that variations in many genes each contribute a small amount.

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Pharmacogenomics is the study of how human genetic information impacts drug response, and it aims to improve efficacy and reduced side effects. In this article, we provide an overview of pharmacogenetics, including pharmacokinetics PK , pharmacodynamics PD , gene and pathway interactions, and off-target effects. We describe methods for discovering genetic factors in drug response, including genome-wide association studies GWAS , expression analysis, and other methods such as chemoinformatics and natural language processing NLP. We cover the practical applications of pharmacogenomics both in the pharmaceutical industry and in a clinical setting. In drug discovery, pharmacogenomics can be used to aid lead identification, anticipate adverse events, and assist in drug repurposing efforts. Moreover, pharmacogenomic discoveries show promise as important elements of physician decision support. Finally, we consider the ethical, regulatory, and reimbursement challenges that remain for the clinical implementation of pharmacogenomics.

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