title: Molecular Genetics External Quality Assessment Pilot Scheme for Irinotecan-Related UGT1A1 Genotyping in China.
abstract: Irinotecan is widely used in the treatment of solid tumors, especially in colorectal cancer and lung cancer. Molecular testing for UGT1A1 genotyping is increasingly required in China for optimum irinotecan administration. In order to determine the performance of laboratories with regard to the whole testing process for UGT1A1 to ensure the consistency and accuracy of the test results, the National Center for Clinical Laboratories conducted an external quality assessment program for UGT1A1*28 genotyping in 2015. The panel, which comprised of four known mutational samples and six wild-type samples, was distributed to 45 laboratories that test for the presence of UGT1A1*28 polymorphisms. Participating laboratories were allowed to perform polymorphism analysis by using their routine methods. The accuracy of the genotyping and reporting of results was analyzed. Other information from the individual laboratories, including the number of samples tested each month, accreditation/certification status, and test methodology, was reviewed. Forty-four of the 45 participants reported the correct results for all samples. There was only one genotyping error, with a corresponding analytical sensitivity of 99.44% (179/180 challenges; 95% confidence interval: 96.94-99.99%) and an analytical specificity of 100% (270/270 challenges; 95% confidence interval: 98.64-100%). Both commercial kits and laboratory development tests were commonly used by the laboratories, and pyrosequencing was the main methodology used (n = 26, 57.8%). The style of the written reports showed large variation, and many reports showed a shortage of information. In summary, the first UGT1A1 genotyping external quality assessment result demonstrated that UGT1A1 genotype analysis of good quality was performed in the majority of pharmacogenetic testing centers that were investigated. However, greater education on the reporting of UGT1A1 genetic testing results is needed.
authors.affiliation: National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, P R China.|Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, P R China.
authors.forename: Lang
authors.initials: L
authors.lastname: Yi
authors.affiliation: National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, P R China.
authors.forename: Guigao
authors.initials: G
authors.lastname: Lin
authors.affiliation: National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, P R China.
authors.forename: Kuo
authors.initials: K
authors.lastname: Zhang
authors.affiliation: National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, P R China.
authors.forename: Lunan
authors.initials: L
authors.lastname: Wang
authors.affiliation: National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, P R China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.affiliation: National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, P R China.
authors.forename: Jiehong
authors.initials: J
authors.lastname: Xie
authors.affiliation: National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, P R China.|Graduate School, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, P R China.
authors.forename: Jinming
authors.initials: J
authors.lastname: Li
mesh_terms: D000972:Antineoplastic Agents, Phytogenic / Q000627:therapeutic use*; D002166:Camptothecin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D002460:Cell Line; D002681:China; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D000077146:Irinotecan; D009369:Neoplasms / Q000188:drug therapy; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic; D059004:Topoisomerase I Inhibitors / Q000627:therapeutic use*; D000099148:UGT1A1 Enzyme
chemical_list: D000972:Antineoplastic Agents, Phytogenic; D002166:Camptothecin; D014453:Glucuronosyltransferase; D000077146:Irinotecan; D059004:Topoisomerase I Inhibitors; D000099148:UGT1A1 Enzyme
references.citation: Pharmacogenet Genomics. 2007 Jul;17(7):497-504
references.pmid: 17558305
references.citation: Lancet. 2003 Jun 28;361(9376):2235-42
references.pmid: 12842380
references.citation: Methods. 2013 Jan;59(1):20-31
references.pmid: 23110812
references.citation: Cancer. 2011 Jul 15;117(14):3156-62
references.pmid: 21287524
references.citation: Lancet. 1996 Mar 2;347(9001):578-81
references.pmid: 8596320
references.citation: J Mol Diagn. 2010 Nov;12(6):835-46
references.pmid: 20889555
references.citation: Oncology. 2009;76(5):315-21
references.pmid: 19299905
references.citation: J Chemother. 2012 Aug;24(4):217-20
references.pmid: 23040686
references.citation: Pharmacogenomics. 2014 Jun;15(9):1171-4
references.pmid: 25141892
references.citation: Clin Chem. 2003 Jul;49(7):1182-5
references.pmid: 12816917
references.citation: Clin Chem. 2007 Jul;53(7):1349-57
references.pmid: 17582151
references.citation: Clin Chem Lab Med. 2013 Jun;51(6):1177-84
references.pmid: 23241680
references.citation: Fundam Clin Pharmacol. 2015 Jun;29(3):219-37
references.pmid: 25817555
references.citation: Lancet. 2000 Mar 25;355(9209):1041-7
references.pmid: 10744089
references.citation: World J Gastroenterol. 2013 Jun 28;19(24):3899-903
references.pmid: 23840132
references.citation: PLoS One. 2015 Mar 27;10(3):e0121485
references.pmid: 25816007
references.citation: Pharmacogenomics J. 2007 Oct;7(5):333-8
references.pmid: 17060921
references.citation: Drug Metab Dispos. 2005 Mar;33(3):458-65
references.pmid: 15572581
references.citation: Cancer Chemother Pharmacol. 2011 Aug;68(2):279-84
references.pmid: 20957480
references.citation: Clin Pharmacol Ther. 2011 May;89(5):662-73
references.pmid: 21412232
references.citation: J Clin Oncol. 2009 May 20;27(15):2530-5
references.pmid: 19349543
references.citation: Clin Chim Acta. 2013 Sep 23;424:274-86
references.pmid: 23714327
references.citation: N Engl J Med. 2005 Feb 3;352(5):476-87
references.pmid: 15689586
references.citation: Arch Pathol Lab Med. 2013 Sep;137(9):1232-6
references.pmid: 23991737
references.citation: J Clin Lab Anal. 2007;21(3):167-72
references.pmid: 17506482
references.citation: Clin Chem. 2011 Sep;57(9):1303-10
references.pmid: 21771946
references.citation: Tohoku J Exp Med. 2013;229(2):107-14
references.pmid: 23303296
references.citation: Br J Cancer. 2004 Aug 16;91(4):678-82
references.pmid: 15280927
references.citation: Br J Clin Pharmacol. 2006 Jul;62(1):35-46
references.pmid: 16842377
references.citation: Clin Cancer Res. 2010 Aug 1;16(15):3832-42
references.pmid: 20562211
references.citation: Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8170-4
references.pmid: 9653159
references.citation: Vox Sang. 2002 Aug;83 Suppl 1:333-5
references.pmid: 12617164