上海地区伊立替康药物代谢相关基因检测室间质量评价结果分析

External quality assessment of irinotecan-related metabolism genotyping in Shanghai

目的以抽取自人全血的基因组DNA为质控样本,开展伊立替康代谢相关基因室间质量评价(EQA)计划,评估参评实验室检测能力,提高其检测质量。方法通过对人类基因组DNA的测序,获得包含多种尿苷二磷酸葡萄糖醛酸基转移酶1A1(UGT1A1)*6和UGT1A1*28不同基因型组合的样本,制备EQA质控样本盘。每个样本盘包含5支样本,要求参评实验室收到样本后在规定时间内检测,并上传检测结果。汇总各实验室各样本的总体符合率,分析不同检测方法的符合率和检测错误类型。结果2019年2次EQA中,满分的实验室分别占88.00%(22/25)和86.36%(19/22),样本检测的总符合率分别为96.33%(236/245)和96.74%(208/215);其中,荧光分子杂交法样本符合率均为100.00%,Sanger测序法样本符合率分别为91.82%(101/110)和93.00%(93/100)。结论参评实验室检测的总体准确率较高,但个别实验室检测能力仍有待提高,尤其是需加强实验室自建的Sanger测序法的全程质量控制。

Objective To use human genome DNA as quality control samples to evaluate the performance of irinotecan-related metabolism genotyping in external quality assessment(EQA)program,and to discuss the problems found in clinical laboratories enrolled.Methods The samples of various combination of Urdine Diphosphate glucuronosyltransferase 1 family polypeptide A1(UGT1A1)*6 and UGT1A1*28 genotyped by human genome DNA sequencing were obtained.Each sample panel contained 5 different samples of the genomic DNA above.Participating clinical laboratories were asked to test these samples using their routine methods and report the results before deadline.The score of each laboratory and the overall compliance rate of different samples as well as the sensitivity and specificity of different methods were calculated based on their results.Results The 88.00%(22/25)and 86.36%(19/22)of the clinical laboratories submitted correct results for all the samples in 2 EQA schemes.The overall compliance rates were 96.33%(236/245)and 96.74%(208/215),respectively.All the clinical laboratories using digital fluorescence hybridization got full credits in 2 EQA schemes.The compliance rates for Sanger sequencing were 91.82%(101/110)and 93.00%(93/100),respectively.Conclusions The overall accuracy rate of clinical laboratories enrolled is high,while the performance capability of some clinical laboratories needs to be improved,especially the whole process quality control of clinical laboratory developed Sanger sequencing.