title: [Personalised pharmacogenetics. Evidence-based guidelines and clinical application of pharmacogenetic diagnostics].
abstract: The broad clinical application of pharmacogenetic diagnostics for individualised drug treatment is still limited. With the exception of oncological therapies where molecular tumor makers are frequently used to decide upon individual drug therapies, pharmacogenetic testing is not generally offered in clinical laboratory diagnostics, because the costs are not covered by general health insurance and it is not evident what consequences the results of a genotyping test may have for the individual drug treatment. Especially in the context of pharmacokinetics, bioequivalence-based concepts have been developed that allow the individual drug dosage or therapy to be adjusted to genetic polymorphisms in drug metabolism, drug transport that affect drug absorption, metabolism and elimination. Pharmacogenetic aspects are increasingly included in the product information (e.g., on its website the FDA lists more than 60 drug labels that include pharmacogenetic information). However, most pharmacogenetic information on drug labels does not give recommendations for clinical decisions to be made based on individual genotypes. This gap is currently being closed by the development of international consortia aiming to base clinical recommendations on the best available evidence by systematic review of the existing data. The Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network (CPIC) is an international community-driven organisation that is developing peer-reviewed, freely available gene/drug guidelines that are published in full at PharmGKB (http://www.pharmgkb.org). The aim of these guidelines is to give therapeutic recommendations such as dose adjustments or suggestions for the choice of an alternative drug in the case of specific genotypes (phenotypes) that predict slow metabolism or transport of drugs or safety risks or risks of therapeutic failure. These guidelines are not mandatory but serve to facilitate the translation of pharmacogenetic knowledge from bench to bedside.
authors.affiliation: Abteilung Forschung, Bundesinstitut für Arzneimittel und Medizinprodukte, Kurt-Georg-Kiesinger Allee 3, 53175, Bonn, Deutschland, julia.stingl@bfarm.de.
authors.forename: J C
authors.initials: JC
authors.lastname: Stingl
authors.forename: J
authors.initials: J
authors.lastname: Brockmöller
mesh_terms: D016903:Drug Monitoring / Q000592:standards*; D019317:Evidence-Based Medicine; D005819:Genetic Markers / Q000235:genetics*; D057089:Pathology, Molecular / Q000592:standards*; D010597:Pharmacogenetics / Q000592:standards*; D017410:Practice Guidelines as Topic; D057285:Precision Medicine / Q000592:standards*
chemical_list: D005819:Genetic Markers