Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project.

Pharmacogenetic (PGx) testing is increasingly available from clinical and research laboratories. However, only a limited number of quality control and other reference materials (RMs) are currently available for the complex rearrangements and rare variants that occur in the CYP2D6 gene. To address this need, the Division of Laboratory Systems, Centers for Disease Control and Prevention based Genetic Testing Reference Material Coordination Program (GeT-RM), in collaboration with members of the pharmacogenetic testing and research communities and the Coriell Cell Repositories, has characterized 179 DNA samples derived from Coriell cell lines. Testing included the re-characterization of 137 genomic DNAs that were genotyped in previous GeT-RM studies and 42 additional samples that had not been previously characterized. DNA samples were distributed to volunteer testing laboratories for genotyping using a variety of commercially available and laboratory developed tests. These publicly available samples will support the quality assurance and quality control programs of clinical laboratories performing CYP2D6 testing.