Pharmacogenetics Guidelines: Overview and Comparison of the DPWG, CPIC, CPNDS, and RNPGx Guidelines
TLDR
Many evidence based pharmacogenetics guidelines with clear recommendations are available for clinical decision making by healthcare professionals, patients and other stakeholders.Abstract:
Many studies have shown that the efficacy and risk of side effects of drug treatment is influenced by genetic variants. Evidence based guidelines are essential for implementing pharmacogenetic knowledge in daily clinical practice to optimize pharmacotherapy of individual patients. A literature search was performed to select committees developing guidelines with recommendations being published in English. The Dutch Pharmacogenetics Working Group (DPWG), the Clinical Pharmacogenetics Implementation Consortium (CPIC), the Canadian Pharmacogenomics Network for Drug Safety (CPNDS), and the French National Network (Reseau) of Pharmacogenetics (RNPGx) were selected. Their guidelines were compared with regard to the methodology of development, translation of genotypes to predicted phenotypes, pharmacotherapeutic recommendations and recommendations on genotyping. A detailed overview of all recommendations for gene-drug combinations is given. The committees have similar methodologies of guideline development. However, the objectives differed at the start of their projects, which have led to unique profiles and strengths of their guidelines. DPWG and CPIC have a main focus on pharmacotherapeutic recommendations for a large number of drugs in combination with a patient's genotype or predicted phenotype. DPWG, CPNDS and RNPGx also recommend on performing genetic testing in daily clinical practice, with RNPGx even describing specific clinical settings or medical conditions for which genotyping is recommended. Discordances exist, however committees also initiated harmonizing projects. The outcome of a consensus project was to rename "extensive metabolizer (EM)" to "normal metabolizer (NM)". It was decided to translate a CYP2D6 genotype with one nonfunctional allele (activity score 1.0) into the predicted phenotype of intermediate metabolizer (IM). Differences in recommendations are the result of the methodologies used, such as assessment of dose adjustments of tricyclic antidepressants. In some cases, indication or dose specific recommendations are given for example for clopidogrel, codeine, irinotecan. The following drugs have recommendations on genetic testing with the highest level: abacavir (HLA), clopidogrel (CYP2C19), fluoropyrimidines (DPYD), thiopurines (TPMT), irinotecan (UGT1A1), codeine (CYP2D6), and cisplatin (TPMT). The guidelines cover many drugs and genes, genotypes, or predicted phenotypes. Because of this and their unique features, considering the totality of guidelines are of added value. In conclusion, many evidence based pharmacogenetics guidelines with clear recommendations are available for clinical decision making by healthcare professionals, patients and other stakeholders.read more
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A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study
Jesse J. Swen,Cathelijne H. van der Wouden,Lisanne En Manson,Heshu Abdullah-Koolmees,Kathrin Blagec,Tanja Blagus,Stefan Böhringer,Anne Cambon-Thomsen,Erika Cecchin,Ka-Chun Cheung,Vera H.M. Deneer,Mathilde Dupui,Magnus Ingelman-Sundberg,Siv Jonsson,Candace Joefield-Roka,Katja Susanne Just,Mats O. Karlsson,Lidija Konta,Rudolf Koopmann,Marjolein Kriek,Thorsten Lehr,Christina Mitropoulou,Emmanuelle Rial-Sebbag,Victoria Rollinson,Rossana Roncato,Matthias Samwald,Elke Schaeffeler,Maria Skokou,Matthias Schwab,Daniela Steinberger,Julia C. Stingl,Roman Tremmel,Richard M. Turner,Mandy H. van Rhenen,Cristina L Dávila Fajardo,Vita Dolzan,George P. Patrinos,Munir Pirmohamed,Gere Sunder-Plassmann,Giuseppe Toffoli,Henk-Jan Guchelaar,Anne M. Buunk,H. Goossens,Gert Baas,Maartje Algera,Evelyn Schuil-Vlassak,T. Ambagts,Leonie De Hoog-Schouten,Sara A M Musaafir,Roelof Bosch,Carolin Tjong,Sanne Steeman,Mart N. van der Plas,G.S. Baldew,Iris Den Hollander,Zacharias De Waal,Aurele Heijn,Leen Nelemans,Kirsten Kouwen-Lubbers,Maria André-van Leeuwen,Sacha C. Hoogenboom,Jacobine Van Doremalen,C. F. Vorst Ton,Bastien Beetstra,V Meijs,Jan Dikken,Dasha J. Dubero,Mark Slager,Tom Houben,T. Kanis,W. Overmars,Marga Nijenhuis,Michael Steffens,Ingmar Bergs,Kariofyllis Karamperis,Stavroula Siamoglou,Ouliana Ivantsik,Georgia-Chryssa Samiou,Zoe Kordou,Evira Tsermpini,Panagiotis Ferentinos,Aikaterini Karaivazoglou,George Rigas,Harilaos Gerasimou,G. Voukelatou,E. Georgila,Evangelia-Eirini Tsermpini,Efrossyni Mendrinou,Konstantina Chalikiopoulou,Alexandra Kolliopoulou,Konstantinos Mitropoulos,Apostolos Stratopoulos,Ioannis Liopetas,Athina Tsikrika,Eva Maria Barba,Georgiadis Emmanouil,Theano Stamopoulou,Andreas Stathoulias,Panagiotis Giannopoulos,F. Kanellakis,Marina Bartsakoulia,Theodora Katsila,Athanassios Douzenis,F Gourzis,Konstantinos Assimakopoulos,Alessia Bignucolo,Lisa Dal Cin,Francesco Comello,Silvia Mezzalira,Fabio Puglisi,Michele Spina,Luisa Foltran,Michela Guardascione,Angela Buonadonna,Michele Bartoletti,Serena Corsetti,Elena Ongaro,Lucia Da Ros,Silvia Bolzonello,Simon Spazzapan,Andrea Freschi,P. Di Nardo,E. Palazzari,F. Navarria,Roberto Innocente,Massimiliano Berretta,Mario D'Andrea,Francesco Angelini,Tania Diraimo,Adolfo Favaretto,Cristina Lucía Dávila-Fajardo,Xando Díaz-Villamarín,Luis Javier Martinez-Gonzalez,Alba Antúnez-Rodríguez,Eduardo Moreno-Escobar,Ana Fernandez-Gonzalez,Paloma García-Navas,Alicia Bautista-Pavés,F. Burillo-Gómez,Inmaculada Villegas-Rodríguez,Jesús Sánchez-Ramos,María J Antolinos-Pérez,Ricardo Rivera,S. Martínez-Huertas,Jesu Raju Thomas,Jose Julio Carazo,Mª Isabel Yañez-Sanchez,Rocío Blancas-López-Navajas,Beatriz García-Orta,Carlos José González-Astorga,Francisco Javier Rodríguez-González,Manuel Ruiz-Carazo,I. Lopez-Perez,Rosa Cano-Herrera,Teresa Mercedes Herrera,Gil-Jiménez,Mayte Delgado-Ureña,José Matías Triviño-Juárez,Salustiano Campos-Velázquez,Silvia Alcántara-Espadafor,Mariano Aguilar,Maria Carmen Ontiveros-Ortega,Lidia Carnerero-Córdoba,Margarita Guerrero-Jiménez,Marta Legerén-Alvarez,Marisol Yélamos-Vargas,Isabel Castillo-Pérez,Ismael Francisco Aomar-Millán,M. Anguita-Romero,María José Sánchez-García,S. Sequero-Lopez,N Faro-Miguez,Silvia López-Fernández,Rosario Nieves Leyva-Ferrer,N. Herrera-Gomez,Laura Pertejo-Manzano,Eva Mª Pérez-Gutierrez,Antonio J. Martín-de la Higuera,J. Plaza-Carrera,Flor Baena-Garzón,Pablo Toledo-Frías,Inés Cruz-Valero,Verónica Chacón-McWeeny,Isabel Gallardo-Sánchez,Antonio L. Arrebola,Lucía Guillén-Zafra,Ángel Ceballos Torres,Plácido Guardia-Mancilla,Emilio Guirao-Arrabal,Jesús Canterero-Hinojosa,S. Velasco-Fuentes,Daniel Sánchez-Cano,Mª del Pilar Aguilar-Jaldo,Juan Caballero-Borrego,Monika Praznik,Urška Slapšak,Blaž Vončina,Branka Rajter,Andrej Škrinjar,Angelika Marjetič Ulčakar,Anja Zidanšek,Tea Stegne Ignjatvič,Barbara Mazej Poredoš,Živka Vivod Pečnik,Tonka Poplas Susič,Milojka Juteršek,Jasna Klen,Janja Skoporc,Tjaša Kotar,Marija Petek Šter,Mojca Zvezdana Dernovšk,Gregor Mlinsek,Petra Miklavčič,Anja Plemenitaš Ilješ,Cvetka Grasic Kuhar,Irena Oblak,Branka Strazisar,Danijela Štrbac,Erika Matos,Marina Mencinger,Marko Vrbnjak,Marko Saje,Mirjana N. Radovanović,Katja Jeras,Lucija Bukovec,Tea Terzić,Iris K. Minichmayr,Abdulaziz Nanah,Elisabet I. Nielsen,Yuanxi Zou,Volker M. Lauschke,P. Johansson,Yitian Zhou,Åsa Nordling,Christof Aigner,Marlies Dames-Ludwig,Rossella Monteforte,Raute Sunder-Plassmann,Corinna Steinhauser,G. Sengoelge,Wolfgang Winnicki,Alice Schmidt,Fragoulakis Vasileios,Vanessa Furtado Fontana,Anita Hanson,Margaret Little,Rachael Hornby,Cinzia Dello Russo,Stephanie French,Jamie Hampson,Mukaddes Gumustekin,George C. Anyfantis,Lucy Hampson,DavidL. Lewis,R. Westhead,Clare Prince,Arjunan Rajasingam +256 more
Journal ArticleDOI
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs.
Jurriaan M. J. L. Brouwer,Jurriaan M. J. L. Brouwer,Marga Nijenhuis,Bianca Soree,Henk-Jan Guchelaar,Jesse J. Swen,Ron H.N. van Schaik,Jan van der Weide,Gerard A. Rongen,Anne-Marie Buunk,Nienke J de Boer-Veger,Elisa J. F. Houwink,Roos van Westrhenen,Roos van Westrhenen,Bob Wilffert,Vera H.M. Deneer,Vera H.M. Deneer,Hans Mulder +17 more
TL;DR: The Dutch Pharmacogenetics Working Group (DPWG) guideline as mentioned in this paper presents the gene-drug interaction between the genes CYP2C19 and CYP 2D6 and antidepressants of the selective serotonin reuptake inhibitor type (SSRIs).
Journal ArticleDOI
Pharmacogenomics decision support in the U-PGx project: Results and advice from clinical implementation across seven European countries
Kathrin Blagec,Jesse J. Swen,Rudolf Koopmann,Ka-Chun Cheung,Mandy H Crommentuijn-van Rhenen,Inge G. A. Holsappel,Lidija Konta,Simon Ott,Daniela Steinberger,Hong Xu,Erika Cecchin,Vita Dolzan,Cristina Lucía Dávila-Fajardo,George P. Patrinos,Gere Sunder-Plassmann,Richard M. Turner,Munir Pirmohamed,Henk-Jan Guchelaar,Matthias Samwald +18 more
TL;DR: The feasibility of implementing a standardized PGx decision support solution in a multinational, multi-language and multi-center setting was demonstrated and remaining challenges for future wide-scale roll-out were identified.
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The Influence of Pharmacogenetics on the Clinical Relevance of Pharmacokinetic Drug-Drug Interactions: Drug-Gene, Drug-Gene-Gene and Drug-Drug-Gene Interactions.
Martina Hahn,Sibylle C. Roll +1 more
TL;DR: In this paper, the impact of genetic variations on drug-drug interactions has been discussed and a review of the current evidence of drug-gene interactions, as well as drug -gene-drug interaction is presented.
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A Comprehensive Review of HLA and Severe Cutaneous Adverse Drug Reactions: Implication for Clinical Pharmacogenomics and Precision Medicine.
Chiraphat Kloypan,Napatrupron Koomdee,Patompong Satapornpong,Therdpong Tempark,Mohitosh Biswas,Mohitosh Biswas,Chonlaphat Sukasem +6 more
TL;DR: In this article, the authors have shown that the associations of different HLA alleles with the risk of drug induced SJS/TEN, toxic epidermal necrolysis (TEN), drug reaction with eosinophilia and systemic symptoms (DRESS), maculopapular exanthema (MPE), and MPE are strongly supportive for clinical considerations.
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