高通量测序临床应用中数据质量控制和分析若干问题的探讨

Next generation sequencing in quality control and analysis of data

随着国内精准医学计划的开展,高通量测序,即下一代测序(NGS)在临床检测上的应用得到了大力推动。然而,作为临床检测领域的新生事物,目前尚缺乏系统性的法规或指南来规范NGS检测项目的开展。作为肿瘤诊断和治疗试点单位之一,长海医院转化医学中心正在开展遗传性肿瘤筛查和肿瘤个体化用药指导的NGS检测项目。文章将以该中心在NGS检测实践中碰到的问题和积累的经验进行阐述,希望能为相关临床工作的开展提供参考。

With the development of precision medicine in China,next generation sequencing(NGS)has been improved in clinical practice.Though NGS is a new technology in the field of clinical laboratory medicine,there is afew systematic laws,regulations and guidelines to regulate the development of NGS.Changhai Hospital is one of thefirst national trial units,which is applying NGS to the diagnosis and therapy of cancer.Now,it has conducted2NGSprograms,which are genetic testing program and cancer individualized medication program.This review will focus on the problems from practice and provide a useful reference.