Guan Yan-Fang, Li Gai-Rui, Wang Rong-Jiao, Yi Yu-Ting, Yang Ling, Jiang Dan, Zhang Xiao-Ping, Peng Yin
Shenzhen Clinical Molecular Diagnostic Engineering Laboratory, BGI-Shenzhen, Shenzhen, Guangdong, People's Republic of China.
Chin J Cancer. 2012 Oct;31(10):463-70. doi: 10.5732/cjc.012.10216. Epub 2012 Sep 17.
With the development and improvement of new sequencing technology, next-generation sequencing (NGS) has been applied increasingly in cancer genomics research over the past decade. More recently, NGS has been adopted in clinical oncology to advance personalized treatment of cancer. NGS is used to identify novel and rare cancer mutations, detect familial cancer mutation carriers, and provide molecular rationale for appropriate targeted therapy. Compared to traditional sequencing, NGS holds many advantages, such as the ability to fully sequence all types of mutations for a large number of genes (hundreds to thousands) in a single test at a relatively low cost. However, significant challenges, particularly with respect to the requirement for simpler assays, more flexible throughput, shorter turnaround time, and most importantly, easier data analysis and interpretation, will have to be overcome to translate NGS to the bedside of cancer patients. Overall, continuous dedication to apply NGS in clinical oncology practice will enable us to be one step closer to personalized medicine.
随着新测序技术的发展与完善，在过去十年中，新一代测序（NGS）在癌症基因组学研究中的应用日益广泛。最近，NGS已被应用于临床肿瘤学，以推进癌症的个性化治疗。NGS用于识别新的和罕见的癌症突变，检测家族性癌症突变携带者，并为适当的靶向治疗提供分子依据。与传统测序相比，NGS具有许多优势，例如能够以相对较低的成本在一次检测中对大量基因（数百至数千个）的所有类型突变进行全测序。然而，要将NGS应用于癌症患者床边，还必须克服重大挑战，特别是在需要更简单的检测方法、更灵活的通量、更短的周转时间，以及最重要的是更易于数据分析和解读方面。总体而言，持续致力于将NGS应用于临床肿瘤学实践将使我们离个性化医疗更近一步。
