Consequences of CYP2D6 Copy-Number Variation for Pharmacogenomics in Psychiatry

Best practices for overcoming measurement accuracy and data interpretation challenges

Pharmacogenomics represents a potentially powerful enhancement to the current standard of care for psychiatric patients. However, a variety of biological and technical challenges must be addressed in order to provide adequate clinical decision support for personalized prescribing and dosing based on genomic data. This is particularly true in the case of CYP2D6, a key drug-metabolizing gene, which not only harbors multiple genetic variants known to affect enzyme function but also shows a broad range of copy-number and hybrid alleles in various patient populations. Here, we describe several challenges in the accurate measurement and interpretation of data from the CYP2D6 locus including the clinical consequences of increased copy number. We discuss best practices for overcoming these challenges and then explore various current and future applications of pharmacogenomic analysis of CYP2D6 in psychiatry.


Personalized medicine, precision medicine, gene deletion, gene duplications, pharmacogenomics, cytochrome P450 CYP2D6, psychiatry, copy-number variation


Joseph P. Jarvis, Arul Prakasam Peter, Jeffrey A. Shaman

Coriell Life Sciences, Philadelphia, PA, United States

White Paper

Published June 20, 2019

Volume 10, Article 432

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    Last Updated: October 16, 2020