Introduction

The ‘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 covered

We 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 opinion

NGS 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.

中文翻译：

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日本下一代测序和补充诊断的监管前景。

介绍

“一种生物标志物/一种药物”的情况是不可持续的，因为癌症是一种复杂的疾病，涉及许多分子缺陷。在过去十年中，重大技术进步降低了整体成本并提高了下一代测序 (NGS) 的效率。

覆盖区域

我们回顾了日本最近关于 NGS 和补充诊断的法规，主要关注利用这些新诊断方式并在过去 5 年内发表的高质量研究。我们强调了监管的重大变化，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

与传统的伴随诊断和互补诊断相比，NGS 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。已经利用基于 NGS 的基因组数据来更好地了解影响患者对给定治疗反应的疾病的特征。然而，随着基于 NGS 的测试变得越来越普遍，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 使患者受益，就必须对其进行管理。