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基因组发现的进展及其对个性化预防和医学的影响:以爱沙尼亚为例

Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example.

作者信息

Prins Bram Peter, Leitsalu Liis, Pärna Katri, Fischer Krista, Metspalu Andres, Haller Toomas, Snieder Harold

机构信息

MRC/BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK.

Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.

出版信息

J Pers Med. 2021 Apr 29;11(5):358. doi: 10.3390/jpm11050358.

Abstract

The current paradigm of personalized medicine envisages the use of genomic data to provide predictive information on the health course of an individual with the aim of prevention and individualized care. However, substantial efforts are required to realize the concept: enhanced genetic discoveries, translation into intervention strategies, and a systematic implementation in healthcare. Here we review how further genetic discoveries are improving personalized prediction and advance functional insights into the link between genetics and disease. In the second part we give our perspective on the way these advances in genomic research will transform the future of personalized prevention and medicine using Estonia as a primer.

摘要

当前的个性化医疗模式设想利用基因组数据提供关于个体健康进程的预测信息,以实现预防和个性化护理的目的。然而,要实现这一概念需要付出巨大努力:加强基因发现、转化为干预策略并在医疗保健中进行系统实施。在此,我们回顾进一步的基因发现如何改进个性化预测并深化对基因与疾病之间联系的功能见解。在第二部分,我们以爱沙尼亚为例,阐述基因组研究的这些进展将如何改变个性化预防和医学的未来。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7488/8145318/b883e9b18935/jpm-11-00358-g001.jpg

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