Carrasco-Ramiro F, Peiró-Pastor R, Aguado B
Centro de Biología Molecular Severo Ochoa (CBMSO) CSIC-UAM. Genomics and Next Generation Sequencing Service. Campus de Excelencia Internacional (CEI) UAM+CSIC. Nicolás Cabrera 1, Madrid, Cantoblanco, Spain.
Gene Ther. 2017 Sep;24(9):551-561. doi: 10.1038/gt.2017.77. Epub 2017 Aug 14.
The completion of the Human Genome Project (HGP) in 2001 opened the floodgates to a deeper understanding of medicine. There are dozens of HGP-like projects which involve from a few tens to several million genomes currently in progress, which vary from having specialized goals or a more general approach. However, data generation, storage, management and analysis in public and private cloud computing platforms have raised concerns about privacy and security. The knowledge gained from further research has changed the field of genomics and is now slowly permeating into clinical medicine. The new precision (personalized) medicine, where genome sequencing and data analysis are essential components, allows tailored diagnosis and treatment according to the information from the patient's own genome and specific environmental factors. P4 (predictive, preventive, personalized and participatory) medicine is introducing new concepts, challenges and opportunities. This review summarizes current sequencing technologies, concentrates on ongoing human genomics projects, and provides some examples in which precision medicine has already demonstrated clinical impact in diagnosis and/or treatment.
2001年人类基因组计划(HGP)的完成,为更深入地理解医学打开了大门。目前有几十项类似人类基因组计划的项目正在进行中,涉及从几十到数百万个基因组,这些项目的目标或方法各有不同,有的较为专门,有的则更具普遍性。然而,公共和私有云计算平台中的数据生成、存储、管理和分析引发了对隐私和安全的担忧。从进一步研究中获得的知识改变了基因组学领域,并且现在正慢慢渗透到临床医学中。新的精准(个性化)医学,其中基因组测序和数据分析是重要组成部分,允许根据患者自身基因组信息和特定环境因素进行量身定制的诊断和治疗。预测性、预防性、个性化和参与性(P4)医学正在引入新的概念、挑战和机遇。本综述总结了当前的测序技术,重点关注正在进行的人类基因组学项目,并提供了一些精准医学已在诊断和/或治疗中显示出临床影响的实例。