TY - JOUR
T1 - Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1
T2 - A GeT-RM and association for molecular pathology collaborative project
AU - Pratt, Victoria M.
AU - Zehnbauer, Barbara
AU - Wilson, Jean Amos
AU - Baak, Ruth
AU - Babic, Nikolina
AU - Bettinotti, Maria
AU - Buller, Arlene
AU - Butz, Ken
AU - Campbell, Matthew
AU - Civalier, Chris
AU - El-Badry, Abdalla
AU - Farkas, Daniel H.
AU - Lyon, Elaine
AU - Mandal, Saptarshi
AU - McKinney, Jason
AU - Muralidharan, Kasinathan
AU - Noll, Le Anne
AU - Sander, Tara
AU - Shabbeer, Junaid
AU - Smith, Chingying
AU - Telatar, Milhan
AU - Toji, Lorraine
AU - Vairavan, Anand
AU - Vance, Carlos
AU - Weck, Karen E.
AU - Wu, Alan H.B.
AU - Yeo, Kiang Teck J.
AU - Zeller, Markus
AU - Kalman, Lisa
PY - 2010/11/1
Y1 - 2010/11/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=78049396695&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=78049396695&partnerID=8YFLogxK
U2 - 10.2353/jmoldx.2010.100090
DO - 10.2353/jmoldx.2010.100090
M3 - Article
C2 - 20889555
AN - SCOPUS:78049396695
SN - 1525-1578
VL - 12
SP - 835
EP - 846
JO - Journal of Molecular Diagnostics
JF - Journal of Molecular Diagnostics
IS - 6
ER -