European Medicines Agency, Domenico Scarlattilaan 6, 1083, HS, Amsterdam, The Netherlands.
Br J Clin Pharmacol. 2020 Aug;86(8):1454-1464. doi: 10.1111/bcp.14305. Epub 2020 May 18.
The ability to benefit from knowledge of human genomic data in medicine has been anticipated since the sequencing of the human genome. That promise has experienced some degree of realization, particularly in oncology where biomarker-specific clinical trials and patient treatment specific to the genetics of their tumours now occur. With whole genome sequencing and related technologies becoming more affordable, and the generation and management of vast amounts of data and information, more capable, new opportunities to benefit from these developments lie ahead. Already emerging are many studies describing the association of genomic variation with molecular underpinnings of disease, association with patient response to drugs and informing the nomination of new drug targets. These developments are accompanied by some ethical, legal and regulatory challenges, which we discuss in this article.
自人类基因组测序以来，人们一直期待着能够从人类基因组数据中受益于医学知识。这一承诺已经在一定程度上得到了实现，特别是在肿瘤学领域，现在已经出现了针对肿瘤遗传学的生物标志物特异性临床试验和患者治疗。随着全基因组测序和相关技术变得更加实惠，以及大量数据和信息的生成和管理，更多利用这些发展的新机会即将出现。已经出现了许多描述基因组变异与疾病分子基础之间的关联、与患者对药物反应的关联以及为新药物靶点的提名提供信息的研究。这些发展伴随着一些伦理、法律和监管方面的挑战，我们在本文中进行了讨论。
