涉及基因扩增的个体化医学检测质量保证的重要性

The importance of quality assurance in laboratory test for personalized medicine

当代医学已进入个体化医学时代，个体化医学检测最为成熟的是基于人特定基因多态性的分析和肿瘤相关基因突变及表达的检测。现在，该类检测通常涉及到PCR扩增基因过程，如实时荧光PCR、PCR＋测序、PCR＋杂交（芯片、膜和乳胶颗粒等）。目前，我国一些临床实验室也正在或拟开展此类临床检测项目，但目前大多在非临床检验科室，如病理科、药剂科、肿瘤科等实验室，处于一个较为混乱的状况，如何从实验室设计、分析前的标本采集及质检、分析中的质量控制和分析后的结果报告解释等关键环节规范个体化医学检测，建立可靠的质量保证体系，是当前我国个体化医学检测面临的问题。

Modem medicine has entered the era of personalized medicine,the most mature of which is based on analysis of the specific gene polymorphism and tumor-related gene mutation and expression detection. Usually the test is related to the PCR technique such as real-time PCR, PCR-sequence, PCR- hybridization （ on chip, membrane, latex particles ） , which leads to the gene amplification process. Now, some laboratories do or will to conduct such clinical tests. But most of them are non-classic clinical laboratories, which belong to the pathology, pharmacy or oncology department. There is a problem in front of us face that is how to standardize the clinical test on the key point of the test including design of the laboratory, collection and handling of the samples, quality control of testing procedure in the laboratory and report and results explanation for personalized testing and establish quality assurance system.