Ann Surg Oncol. 2012 Nov;19(12):3646-50. doi: 10.1245/s10434-012-2542-9.
Revolutionary sequencing technologies have changed biomedical research and life science exponentially. Revealing the whole landscape of causal somatic and inherited mutations underlying individual patient's cancer sample by whole-genome sequencing (WGS) and whole-exome sequencing (WES) can lead to not only a new mutations-based taxonomy of solid tumors (Stratton, Science 331:1553-1558, 2011). But also shapes a roadmap for precision medicine (Roychowdhury et al., Sci Transl Med 3:111ra121, 2011; Roukos, Expert Rev Mol Diagn 12:215-218, 2012; Mirnezami et al., N Engl J Med 366:489-491, 2012). This inevitable approach for personalized diagnostics in concert with free-falling genome sequencing costs raises now the question of applying next-generation sequencing (NGS) technology in the clinic. In the pragmatic clinical world and in contrast to innovative research, is NGS-based clinical evidence sufficient for decision-making on tailoring the best available treatment to the individual cancer patient?
革命性的测序技术正在使生物医学研究和生命科学发生指数级的变化。通过全基因组测序(WGS)和全外显子组测序(WES)揭示导致个体患者癌症样本的因果体细胞和遗传突变的全貌,不仅可以为实体瘤带来新的基于突变的分类法(Stratton,Science 331:1553-1558, 2011),也为精准医学制定了路线图(Roychowdhury 等人,Sci Transl Med 3:111ra121, 2011;Roukos,Expert Rev Mol Diagn 12:215-218, 2012;Mirnezami 等人,N Engl J Med 366:489-491, 2012)。这种个性化诊断的必然方法与基因组测序成本的急剧下降一起,现在引发了一个问题,即是否应将下一代测序(NGS)技术应用于临床。在务实的临床世界中,与创新研究相比,基于 NGS 的临床证据是否足以做出决策,为个体癌症患者定制最佳的可用治疗方法?