Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: A GeT-RM and association for molecular pathology collaborative project

Victoria M. Pratt, Barbara Zehnbauer, Jean Amos Wilson, Ruth Baak, Nikolina Babic, Maria Bettinotti, Arlene Buller, Ken Butz, Matthew Campbell, Chris Civalier, Abdalla El-Badry, Daniel H. Farkas, Elaine Lyon, Saptarshi Mandal, Jason McKinney, Kasinathan Muralidharan, Le Anne Noll, Tara Sander, Junaid Shabbeer, Chingying SmithMilhan Telatar, Lorraine Toji, Anand Vairavan, Carlos Vance, Karen E. Weck, Alan H.B. Wu, Kiang Teck J. Yeo, Markus Zeller, Lisa Kalman

Research output: Contribution to journalArticlepeer-review

Abstract

Pharmacogenetic testing is becoming more common; however, very few quality control and other reference materials that cover alleles commonly included in such assays are currently available. To address these needs, the Centers for Disease Control and Prevention's Genetic Testing Reference Material Coordination Program, in collaboration with members of the pharmacogenetic testing community and the Coriell Cell Repositories, have characterized a panel of 107 genomic DNA reference materials for five loci (CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1) that are commonly included in pharmacogenetic testing panels and proficiency testing surveys. Genomic DNA from publicly available cell lines was sent to volunteer laboratories for genotyping. Each sample was tested in three to six laboratories using a variety of commercially available or laboratory-developed platforms. The results were consistent among laboratories, with differences in allele assignments largely related to the manufacturer's assay design and variable nomenclature, especially for CYP2D6. The alleles included in the assay platforms varied, but most were identified in the set of 107 DNA samples. Nine additional pharmacogenetic loci (CYP4F2, EPHX1, ABCB1, HLAB, KIF6, CYP3A4, CYP3A5, TPMT, and DPD) were also tested. These samples are publicly available from Coriell and will be useful for quality assurance, proficiency testing, test development, and research.

Original languageEnglish (US)
Pages (from-to)835-846
Number of pages12
JournalJournal of Molecular Diagnostics
Volume12
Issue number6
DOIs
StatePublished - Nov 1 2010

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine

Fingerprint Dive into the research topics of 'Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: A GeT-RM and association for molecular pathology collaborative project'. Together they form a unique fingerprint.

Cite this