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Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing

Pre‐emptive pharmacogenetics (PGx) testing of a panel of germline genetic variants represents a new model for personalized medicine. Clinical impact of PGx testing is maximized when all variant alleles for which actionable clinical guidelines are available are included in the test panel. However, no...

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Autores principales: van der Wouden, Cathelijne H., van Rhenen, Mandy H., Jama, Wafa O.M., Ingelman‐Sundberg, Magnus, Lauschke, Volker M., Konta, Lidija, Schwab, Matthias, Swen, Jesse J., Guchelaar, Henk‐Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771671/
https://www.ncbi.nlm.nih.gov/pubmed/31038729
http://dx.doi.org/10.1002/cpt.1489
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author van der Wouden, Cathelijne H.
van Rhenen, Mandy H.
Jama, Wafa O.M.
Ingelman‐Sundberg, Magnus
Lauschke, Volker M.
Konta, Lidija
Schwab, Matthias
Swen, Jesse J.
Guchelaar, Henk‐Jan
author_facet van der Wouden, Cathelijne H.
van Rhenen, Mandy H.
Jama, Wafa O.M.
Ingelman‐Sundberg, Magnus
Lauschke, Volker M.
Konta, Lidija
Schwab, Matthias
Swen, Jesse J.
Guchelaar, Henk‐Jan
author_sort van der Wouden, Cathelijne H.
collection PubMed
description Pre‐emptive pharmacogenetics (PGx) testing of a panel of germline genetic variants represents a new model for personalized medicine. Clinical impact of PGx testing is maximized when all variant alleles for which actionable clinical guidelines are available are included in the test panel. However, no such standardized panel has been presented to date, impeding adoption, exchange, and continuity of PGx testing. We, therefore, developed such a panel, hereafter called the PGx‐Passport, based on the actionable Dutch Pharmacogenetics Working Group (DPWG) guidelines. Germline‐variant alleles were systematically selected using predefined criteria regarding allele population frequencies, effect on protein functionality, and association with drug response. A PGx‐Passport of 58 germline variant alleles, located within 14 genes (CYP2B6,CYP2C9,CYP2C19,CYP2D6,CYP3A5,DPYD, F5,HLA‐A,HLA‐B,NUDT15,SLCO1B1,TPMT,UGT1A1, and VKORC1) was composed. This PGx‐Passport can be used in combination with the DPWG guidelines to optimize drug prescribing for 49 commonly prescribed drugs.
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spelling pubmed-67716712019-10-07 Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing van der Wouden, Cathelijne H. van Rhenen, Mandy H. Jama, Wafa O.M. Ingelman‐Sundberg, Magnus Lauschke, Volker M. Konta, Lidija Schwab, Matthias Swen, Jesse J. Guchelaar, Henk‐Jan Clin Pharmacol Ther Research Pre‐emptive pharmacogenetics (PGx) testing of a panel of germline genetic variants represents a new model for personalized medicine. Clinical impact of PGx testing is maximized when all variant alleles for which actionable clinical guidelines are available are included in the test panel. However, no such standardized panel has been presented to date, impeding adoption, exchange, and continuity of PGx testing. We, therefore, developed such a panel, hereafter called the PGx‐Passport, based on the actionable Dutch Pharmacogenetics Working Group (DPWG) guidelines. Germline‐variant alleles were systematically selected using predefined criteria regarding allele population frequencies, effect on protein functionality, and association with drug response. A PGx‐Passport of 58 germline variant alleles, located within 14 genes (CYP2B6,CYP2C9,CYP2C19,CYP2D6,CYP3A5,DPYD, F5,HLA‐A,HLA‐B,NUDT15,SLCO1B1,TPMT,UGT1A1, and VKORC1) was composed. This PGx‐Passport can be used in combination with the DPWG guidelines to optimize drug prescribing for 49 commonly prescribed drugs. John Wiley and Sons Inc. 2019-06-12 2019-10 /pmc/articles/PMC6771671/ /pubmed/31038729 http://dx.doi.org/10.1002/cpt.1489 Text en © 2019 The Authors Clinical Pharmacology & Therapeutics published by Wiley Periodicals, Inc. on behalf of American Society for Clinical Pharmacology and Therapeutics This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Research
van der Wouden, Cathelijne H.
van Rhenen, Mandy H.
Jama, Wafa O.M.
Ingelman‐Sundberg, Magnus
Lauschke, Volker M.
Konta, Lidija
Schwab, Matthias
Swen, Jesse J.
Guchelaar, Henk‐Jan
Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing
title Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing
title_full Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing
title_fullStr Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing
title_full_unstemmed Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing
title_short Development of the PGx‐Passport: A Panel of Actionable Germline Genetic Variants for Pre‐Emptive Pharmacogenetic Testing
title_sort development of the pgx‐passport: a panel of actionable germline genetic variants for pre‐emptive pharmacogenetic testing
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771671/
https://www.ncbi.nlm.nih.gov/pubmed/31038729
http://dx.doi.org/10.1002/cpt.1489
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