Watanabe Atsushi
Rinsho Byori. 2015 Nov;63(11):1310-5.
Companion diagnostics (CoDx) will likely continue to rapidly increase in number and application to disease areas including solid tumors, for example EGFR for gefitinib and ALK fusion gene for crizotinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; HER2 for trastuzumab in breast cancer. CoDx are an indispensable part of personalized medicine and pharmacogenomics. In CoDx development, there are still many challenges, such as the business model promoting cooperation between diagnostics and pharmaceutical companies, and also the regulations related to CoDx. The FDA notice on the development of CoDx in 2011 recommended the co-development of a new drug and CoDx as the best practice, and the Ministry of Health, Labour and Welfare in Japan also issued a statement in 2013. In addition, the recent discovery of many novel variants in the DNA sequence, advances in sequencing and genomic technology, and improved analytic methods have enabled the impact of germline and somatic mutations to be determined using multiplex diagnosis. The complex challenges to develop CoDx necessitate a close collaboration among academic institutions, regulatory authorities, and pharmaceutical companies. [Review].
伴随诊断（CoDx）的数量和应用可能会继续迅速增长，应用于包括实体瘤在内的疾病领域，例如非小细胞肺癌中用于吉非替尼的表皮生长因子受体（EGFR）以及用于克唑替尼的间变性淋巴瘤激酶（ALK）融合基因；结直肠癌中针对西妥昔单抗和帕尼单抗使用的KRAS；乳腺癌中用于曲妥珠单抗的人表皮生长因子受体2（HER2）。伴随诊断是个性化医疗和药物基因组学不可或缺的一部分。在伴随诊断的开发中，仍存在许多挑战，例如促进诊断公司与制药公司合作的商业模式，以及与伴随诊断相关的法规。美国食品药品监督管理局（FDA）2011年关于伴随诊断开发的通知推荐将新药与伴随诊断共同开发作为最佳实践，日本厚生劳动省也于2013年发表了声明。此外，最近在DNA序列中发现了许多新变异，测序和基因组技术取得进展，分析方法得到改进，使得能够通过多重诊断确定种系突变和体细胞突变的影响。开发伴随诊断面临的复杂挑战需要学术机构、监管当局和制药公司之间密切合作。[综述]
