Translational genomics and precision medicine: Moving from the lab to the clinic

被引：123

作者：

Zeggini, Eleftheria ^{[1
]}

Gloyn, Anna L. ^{[2
,3
,4
]}

Barton, Anne C. ^{[5
,6
]}

Wain, Louise V. ^{[7
,8
]}

机构：

[1] German Res Ctr Environm Hlth, Helmholtz Zentrum Munchen, Inst Translat Genom, Neuherberg, Germany

[2] Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[3] Univ Oxford, Wellcome Ctr Human Genet, Oxford, England

[4] Churchill Hosp, Oxford NIHR Biomed Res Ctr, Oxford, England

[5] Univ Manchester, Manchester Acad Hlth Sci Ctr, Ctr Musculoskeletal Res, Versus Arthrit Ctr Genet & Genom, Manchester, Lancs, England

[6] Manchester Univ NHS Fdn Trust, NIHR Manchester Biomed Res Ctr, Manchester, Lancs, England

[7] Univ Leicester, Dept Hlth Sci, Leicester, Leics, England

[8] Glenfield Hosp, Leicester Resp Biomed Res Ctr, Natl Inst Hlth Res, Leicester, Leics, England

来源：

SCIENCE | 2019年 / 365卷 / 6460期

基金：

美国国家卫生研究院; 英国医学研究理事会; 英国惠康基金;

关键词：

ASSOCIATION; RISK; GENETICS;

D O I：

10.1126/science.aax4588

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Translational genomics aims to improve human health by building on discoveries made through genetics research and applying them in the clinical setting. This progress has been made possible by technological advances in genomics and analytics and by the digital revolution. Such advances should enable the development of prognostic markers, tailored interventions, and the design of prophylactic preventive approaches. We are at the cusp of predicting disease risk for some disorders by means of polygenic risk scores integrated with classical epidemiological risk factors. This should lead to better risk stratification and clinical decision-making. A deeper understanding of the link between genome-wide sequence and association with well-characterized phenotypes will empower the development of biomarkers to aid diagnosis, inform disease progression trajectories. and allow better targeting of treatments to those patients most likely to respond.

引用

页码：1409 / 1413

页数：5

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