Massachusetts General Hospital, Boston, MA, USA.
The Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Nat Rev Genet. 2018 May;19(5):299-310. doi: 10.1038/nrg.2018.4. Epub 2018 Feb 26.
Advances in omics technologies - such as genomics, transcriptomics, proteomics and metabolomics - have begun to enable personalized medicine at an extraordinarily detailed molecular level. Individually, these technologies have contributed medical advances that have begun to enter clinical practice. However, each technology individually cannot capture the entire biological complexity of most human diseases. Integration of multiple technologies has emerged as an approach to provide a more comprehensive view of biology and disease. In this Review, we discuss the potential for combining diverse types of data and the utility of this approach in human health and disease. We provide examples of data integration to understand, diagnose and inform treatment of diseases, including rare and common diseases as well as cancer and transplant biology. Finally, we discuss technical and other challenges to clinical implementation of integrative omics.
组学技术的进步——如基因组学、转录组学、蛋白质组学和代谢组学——已经开始能够在极其详细的分子水平上实现个性化医疗。这些技术各自都为已经开始进入临床实践的医学进步做出了贡献。然而,每种技术本身都无法捕捉到大多数人类疾病的整个生物学复杂性。多种技术的整合已经成为提供更全面的生物学和疾病视图的一种方法。在这篇综述中,我们讨论了结合不同类型数据的潜力,以及这种方法在人类健康和疾病中的应用。我们提供了一些数据整合的例子,以了解、诊断和为包括罕见病和常见病以及癌症和移植生物学在内的疾病提供治疗信息。最后,我们讨论了整合组学向临床实施的技术和其他挑战。