高通量测序技术在五类疾病分子诊断中的应用及质量管理策略

Application and quality management of high-throughput sequencing in clinical molecular diagnosis of five kinds of diseases

高通量测序技术(high-throughput sequencing)又称下一代测序(next generation sequencing,NGS)能一次并行对成千上万个基因进行测序,极大地提高了DNA测序效率并降低了成本。近年来,NGS在医学研究和临床诊断中的应用日益广泛,在无创产前筛查,肿瘤筛查、诊断和治疗,微生物病原体检测,遗传性疾病的筛查与诊断及器官移植排斥筛查等多个领域具有广泛的应用前景。NGS技术作为一项新兴技术,在相关临床应用中也存在诸多问题,其质量管理体系尚不完善,还面临许多挑战,需要医学实验室和相关部门共同努力,以促进NGS在临床诊断中规范开展。

High-throughput sequencing, also known as the high-throughput next generation sequencing（NGS）, can sequence thousands of genes at one time, greatly improve the efficiency of DNA sequencing and reduce the cost. Recently, NGS has been widely used in medical research and clinical diagnosis. It has extensive applications in non-invasive prenatal screening, tumor screening, diagnosis and treatment, microbial pathogens detection, genetic diseases screening and diagnosis as well as organ transplantation rejection screening. However, as a new technology, NGS also has many issues in related clinical application. The quality management system is still imperfect and faces many challenges. Thus the joint efforts of medical laboratories and related departments are needed to promote the standardization of NGS in clinical diagnosis.