title: [Pharmacogenetics: from basic research to clinical applications].
abstract: Pharmacogenetics is the study of the genetic factors implicated in the pharmacological or toxicological response to drugs. This response is very variable and depends on three steps: metabolism/transport, target and organism reaction. Each step is very variable as a function of endogenous (patho-physiological, genetics...) or exogenous (environment: drugs, diet, smoking, alcohol...) factors. The scientific bases of pharmacogenetics have been strongly established: genetic polymorphisms have an impact on pharmacological activity or on the toxicity of numerous drugs and examples are given in this review. By contrast, present clinical applications are more limited although, in some instances, medical and economic interest of the pre-treatment determination of genotype or phenotype of the patients has been clearly demonstrated. Certain hospital laboratories now include pharmacogenetic activity. The predictive or explicative value of pharmacogenetics is scientifically demonstrated but prospective studies for validation are now necessary to identify situations where a clinical application will be actually beneficial for patients.
authors: Hôpital Européen Georges Pompidou, Pôle de Biologie-Laboratoire de Biochimie, 20 rue Leblanc, F 75908, Paris Cedex 15, France. philippe.beaune@univ-paris5.fr
authors: P-H
authors: PH
authors: Beaune
mesh_terms: D000818:Animals; D035843:Biomedical Research / Q000639:trends*; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism; D004358:Drug Therapy; D006801:Humans; D010597:Pharmacogenetics; D010600:Pharmacology / Q000639:trends; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D002352:Carrier Proteins