Functional Genomics and Systems Biology for Health, LGN-UMR 7091, CNRS and Pierre & Marie Curie University of Paris VI, 7 rue Guy Moquet, 94801 Villejuif, France.
Genome Med. 2009 Jan 20;1(1):2. doi: 10.1186/gm2.
High-throughput technologies for DNA sequencing and for analyses of transcriptomes, proteomes and metabolomes have provided the foundations for deciphering the structure, variation and function of the human genome and relating them to health and disease states. The increased efficiency of DNA sequencing opens up the possibility of analyzing a large number of individual genomes and transcriptomes, and complete reference proteomes and metabolomes are within reach using powerful analytical techniques based on chromatography, mass spectrometry and nuclear magnetic resonance. Computational and mathematical tools have enabled the development of systems approaches for deciphering the functional and regulatory networks underlying the behavior of complex biological systems. Further conceptual and methodological developments of these tools are needed for the integration of various data types across the multiple levels of organization and time frames that are characteristic of human development, physiology and disease. Medical genomics has attempted to overcome the initial limitations of genome-wide association studies and has identified a limited number of susceptibility loci for many complex and common diseases. Iterative systems approaches are starting to provide deeper insights into the mechanisms of human diseases, and to facilitate the development of better diagnostic and prognostic biomarkers for cancer and many other diseases. Systems approaches will transform the way drugs are developed through academy-industry partnerships that will target multiple components of networks and pathways perturbed in diseases. They will enable medicine to become predictive, personalized, preventive and participatory, and, in the process, concepts and methods from Western and oriental cultures can be combined. We recommend that systems medicine should be developed through an international network of systems biology and medicine centers dedicated to inter-disciplinary training and education, to help reduce the gap in healthcare between developed and developing countries.
高通量技术在 DNA 测序和转录组、蛋白质组和代谢组分析方面的应用为解析人类基因组的结构、变异和功能，并将其与健康和疾病状态联系起来奠定了基础。DNA 测序效率的提高为分析大量个体基因组和转录组提供了可能，而使用基于色谱、质谱和核磁共振的强大分析技术，完整的参考蛋白质组和代谢组也即将实现。计算和数学工具使人们能够开发出用于解析复杂生物系统行为的功能和调控网络的系统方法。需要进一步发展这些工具的概念和方法，以便整合人类发育、生理学和疾病特有的多个组织层次和时间框架的各种数据类型。医学基因组学试图克服全基因组关联研究的最初局限性，并确定了许多复杂和常见疾病的少数易感基因座。迭代系统方法开始提供对人类疾病机制的更深入了解，并有助于开发用于癌症和许多其他疾病的更好的诊断和预后生物标志物。系统方法将通过针对疾病中受干扰的网络和途径的多个组件的产学研合作来改变药物开发的方式。它们将使医学变得可预测、个性化、预防性和参与性，在此过程中，西方和东方文化的概念和方法可以结合起来。我们建议通过专门致力于跨学科培训和教育的系统生物学和医学中心的国际网络来开发系统医学，以帮助缩小发达国家和发展中国家之间的医疗保健差距。
