Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy.

Creator(s)

Victoria M. Pratt
Larisa H. Cavallari
Andria L. Del Tredici
Andrea Gaedigk, Children's Mercy Kansas CityFollow
Houda Hachad
Yuan Ji
Lisa V. Kalman
Reynold C. Ly
Ann M. Moyer
Stuart A. Scott
R H N van Schaik
Michelle Whirl-Carrillo
Karen E. Weck

Document Type

Article

Publication Date

9-2021

Identifier

DOI: 10.1016/j.jmoldx.2021.05.013

Abstract

The goals of the Association for Molecular Pathology Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing, and to determine a minimal set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations on a minimal panel of variant alleles (Tier 1) and an extended panel of variant alleles (Tier 2) that will aid clinical laboratories in designing assays for PGx testing. When developing these recommendations, the Association for Molecular Pathology PGx Working Group considered the functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations with regard to PGx testing. The ultimate goal of this Working Group is to promote standardization of PGx gene/allele testing across clinical laboratories. This document is focused on clinical CYP2D6 PGx testing that may be applied to all cytochrome P450 2D6-metabolized medications. These recommendations are not meant to be interpreted as prescriptive but to provide a reference guide for clinical laboratories that may be either implementing PGx testing or reviewing and updating their existing platform.

Journal Title

The Journal of molecular diagnostics : JMD

Volume

23

Issue

9

First Page

1047

Last Page

1064

Comments

This article is available under the Creative Commons CC-BY-NC-ND license and permits non-commercial use of the work as published, without adaptation or alteration provided the work is fully attributed.

Publisher's Link: https://www.jmdjournal.org/article/S1525-1578(21)00164-1/fulltext

Recommended Citation

Pratt VM, Cavallari LH, Del Tredici AL, et al. Recommendations for Clinical CYP2D6 Genotyping Allele Selection: A Joint Consensus Recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy. J Mol Diagn. 2021;23(9):1047-1064. doi:10.1016/j.jmoldx.2021.05.013