Pharmacogenomic genotyping methodologies
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Paul J. Jannetto
, Elvan Laleli-Sahin and Steven H. Wong
Abstract
“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.
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© Walter de Gruyter
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Articles in the same Issue
- Therapeutic drug monitoring in clinical toxicology: current strategies, thoughts and views on the future
- Therapeutic monitoring of immunosuppressant drugs. Where are we?
- Therapeutic drug monitoring of non-tricyclic antidepressant drugs
- The relevance of therapeutic drug monitoring in plasma and erythrocytes in anti-cancer drug treatment
- Therapeutic drug monitoring of old and newer anti-epileptic drugs
- Pharmacogenomic genotyping methodologies
- Hair analysis in toxicology
- Oral fluid as a diagnostic tool
- Position of immunological techniques in screening in clinical toxicology
- Position of chromatographic techniques in screening for detection of drugs or poisons in clinical and forensic toxicology and/or doping control
- Systematic toxicological analysis by high-performance liquid chromatography with diode array detection (HPLC-DAD)
- Analysis of γ-hydroxybutyric acid, DL-lactic acid, glycolic acid, ethylene glycol and other glycols in body fluids by a direct injection gas chromatography-mass spectrometry assay for wide use