caa a22 4500 37891748X CHVBK 20180305123557.0 cr unu---uuuuu 161128e20041101xx s 000 0 eng 10.1515/CCLM.2004.246 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.246 Pharmacogenomic genotyping methodologies [Elektronische Daten] [Paul J. Jannetto, Elvan Laleli-Sahin, Steven H. Wong] "Personalized medicine” based on an individual's genetic makeup is slowly becoming a reality as pharmacogenomics moves from the research setting to the clinical laboratory. Concordance studies between genotype and phenotype have shown that inherited mutations in several key drug-metabolizing enzymes, such as cytochrome P450 (CYP) 2D6, 2C9, and 2C19, result in several distinct phenotypes that lead to different individual responses following drug administration. One of the major driving forces behind pharmacogenomics and its ability to be used effectively are the technologies that are available. A beneficial genotyping test must identify most or all of the mutations that have a significant impact on the expression or function of drug-metabolizing enzymes, transporter proteins, and/or drug receptors. Selection of the appropriate technology will be based on several issues, including prior knowledge of the mutation/polymorphism, sensitivity/specificity, sample requirements, and cost. Since the future volume of pharmacogenomic testing is anticipated to be large, automation of pharmacogenomics will also become increasingly important. This paper provides an overview of current technologies available for assessing polymorphisms on a small- to large-scale basis. © Walter de Gruyter Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence genotyping nationallicence pharmacogenomics nationallicence technologies nationallicence Jannetto Paul J. Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA aut Laleli-Sahin Elvan Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA aut Wong Steven H. Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/11(2004-11-01), 1256-1264 1434-6621 42:11<1256 2004 42 cclm https://doi.org/10.1515/CCLM.2004.246 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2004.246 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jannetto Paul J. Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA aut NATIONALLICENCE 700 1- Laleli-Sahin Elvan Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA aut NATIONALLICENCE 700 1- Wong Steven H. Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/11(2004-11-01), 1256-1264 1434-6621 42:11<1256 2004 42 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter