TY - JOUR
T1 - PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting
AU - Turner, Amy J.
AU - Nofziger, Charity
AU - Ramey, Bronwyn E.
AU - Ly, Reynold C.
AU - Bousman, Chad A.
AU - Agúndez, José A.G.
AU - Sangkuhl, Katrin
AU - Whirl-Carrillo, Michelle
AU - Vanoni, Simone
AU - Dunnenberger, Henry M.
AU - Ruaño, Gualberto
AU - Kennedy, Martin A.
AU - Phillips, Michael S.
AU - Hachad, Houda
AU - Klein, Teri E.
AU - Moyer, Ann M.
AU - Gaedigk, Andrea
N1 - Publisher Copyright:
© 2023 The Authors. Clinical Pharmacology & Therapeutics © 2023 American Society for Clinical Pharmacology and Therapeutics.
PY - 2023/12
Y1 - 2023/12
N2 - The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus and a comprehensive summary of structural variation. CYP2D6 contributes to the metabolism of numerous drugs and, thus, genetic variation in its gene impacts drug efficacy and safety. To accurately predict a patient's CYP2D6 phenotype, testing must include structural variants including gene deletions, duplications, hybrid genes, and combinations thereof. This tutorial offers a comprehensive overview of CYP2D6 structural variation, terms, and definitions, a review of methods suitable for their detection and characterization, and practical examples to address the lack of standards to describe CYP2D6 structural variants or any other pharmacogene. This PharmVar tutorial offers practical guidance on how to detect the many, often complex, structural variants, as well as recommends terms and definitions for clinical and research reporting. Uniform reporting is not only essential for electronic health record-keeping but also for accurate translation of a patient's genotype into phenotype which is typically utilized to guide drug therapy.
AB - The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus and a comprehensive summary of structural variation. CYP2D6 contributes to the metabolism of numerous drugs and, thus, genetic variation in its gene impacts drug efficacy and safety. To accurately predict a patient's CYP2D6 phenotype, testing must include structural variants including gene deletions, duplications, hybrid genes, and combinations thereof. This tutorial offers a comprehensive overview of CYP2D6 structural variation, terms, and definitions, a review of methods suitable for their detection and characterization, and practical examples to address the lack of standards to describe CYP2D6 structural variants or any other pharmacogene. This PharmVar tutorial offers practical guidance on how to detect the many, often complex, structural variants, as well as recommends terms and definitions for clinical and research reporting. Uniform reporting is not only essential for electronic health record-keeping but also for accurate translation of a patient's genotype into phenotype which is typically utilized to guide drug therapy.
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U2 - 10.1002/cpt.3044
DO - 10.1002/cpt.3044
M3 - Comment/debate
C2 - 37669183
AN - SCOPUS:85173089740
SN - 0009-9236
VL - 114
SP - 1220
EP - 1237
JO - Clinical pharmacology and therapeutics
JF - Clinical pharmacology and therapeutics
IS - 6
ER -