Developing DNA Reference Materials for CYP2D6 Testing

Developing DNA Reference Materials for CYP2D6 Testing

Published: October 30, 2019

DLS scientist, Dr. Lisa V. Kalman, co-authored Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles, A GeT-RM Collaborative Project with 10 collaborators from academic institutions, reference laboratories, and industry. The CYP2D6 gene encodes an enzyme that is responsible for the metabolism, bioactivation, or elimination of approximately 25% of commonly prescribed drugs. The activity of this enzyme varies greatly between people, so genetic testing of the CYP2D6 gene can be used to predict the level of enzyme activity for each patient, which helps physicians to select appropriate drugs and doses to increase effectiveness and avoid adverse events.

The study describes the development and characterization of 179 publicly available and renewable genomic DNA reference materials which can be used for CYP2D6 test development, validation, quality control, and proficiency testing. Use of these materials can help to assure the quality of clinical genetic tests. The project was conducted by DLS’ Genetic Testing Reference Material Coordination Program (GeT-RM), in partnership with members of the pharmacogenetic testing and research communities and the Coriell Cell Repositories.

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