Regulatory perspectives on next-generation sequencing and complementary diagnostics in Japan
Regulatory perspectives on next-generation sequencing and complementary diagnostics in Japan
复制标题
日本对下一代测序和补充诊断的监管观点
DOI：
10.1080/14737159.2020.1728256
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发表时间：
2020
影响因子：
5.1
通讯作者：
Ikeda M.
中科院分区：
文献类型：
--
作者：
Shimazawa R;Ikeda M.
“一种生物标志物/一种药物”的方案是不可持续的，因为癌症是一种复杂的疾病，涉及许多分子缺陷。在过去的十年中，主要的技术进步降低了整体成本，提高了下一代测序（NGS）的效率。我们回顾了日本最近关于NGS和补充诊断的法规，主要集中在使用这些新诊断模式的高质量研究，并在过去5年内发表。我们强调了监管方面的重大变化，并解释了将NGS和补充诊断的结果转化为临床实践的努力方向。专家意见NGS与传统的伴随和补充诊断相比具有许多优势，可以同时分析多个癌症基因以检测可操作的突变。并行的技术发展和监管变化导致NGS迅速应用于临床实践。基于NGS的基因组数据已经被用来更好地理解影响患者对给定疗法的反应的疾病的特征。然而，随着基于NGS的检测变得越来越普遍，日本当局将面临重大挑战，特别是在基因组数据的复杂性方面，如果NGS要使患者受益，就必须对其进行管理。
IntroductionThe ‘one biomarker/one drug’ scenario is unsustainable because cancer is a complex disorder that involves a number of molecular defects. In the past decade, major technological advances have lowered the overall cost and increased the efficiency of next-generation sequencing (NGS).Areas coveredWe review recent regulations on NGS and complementary diagnostics in Japan, mainly focusing on high-quality studies that utilized these new diagnostic modalities and were published within the last 5 years. We highlight significant changes in regulation, and explain the direction of efforts to translate the results of NGS and complementary diagnostics into clinical practice.Expert opinionNGS holds a number of advantages over conventional companion and complementary diagnostics that enable simultaneous analyzes of multiple cancer genes to detect actionable mutations. Parallel technological developments and regulatory changes have led to the rapid adoption of NGS into clinical practice. NGS-based genomic data have been leveraged to better understand the characteristics of a disease that affects its patient’s response to a given therapy. As NGS-based tests become more widespread, however, Japanese authorities will face significant challenges particularly with respect to the complexity of genomic data, which will have to be managed if NGS is to benefit patients.