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

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journal contribution
posted on 06.11.2020, 16:18 by Eleftheria Zeggini, Anna L. Gloyn, Anne C. Barton, Louise V. Wain
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.

Funding

ALG is a Wellcome Trust Senior Fellow Basic Biomedical Science. ALG is funded by the Wellcome Trust (095101, 200837, 106130, 203141), Medical Research Council (MR/L020149/1), European Union Horizon 2020 Programme (T2D Systems), and NIH (U01-DK105535; U01-DK085545) and by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC). The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. ACB is an NIHR Senior Investigator and supported by the NIHR Manchester Biomedical Research Centre. LVW holds a GSK/British Lung Foundation Chair in Respiratory Research. The authors are grateful to Dr. Iris Fischer for helpful edits.

History

Citation

Science 27 Sep 2019: Vol. 365, Issue 6460, pp. 1409-1413 DOI: 10.1126/science.aax4588

Author affiliation

/Organisation/COLLEGE OF LIFE SCIENCES/School of Medicine/Department of Health Sciences

Version

AM (Accepted Manuscript)

Published in

Science

Volume

365

Issue

6460

Pagination

1409-1413

Publisher

American Association for the Advancement of Science

eissn

1095-9203

Acceptance date

27/08/2019

Copyright date

2019

Available date

27/09/2019

Notes

The file associated with this record is under embargo until publication, in accordance with the publisher's self-archiving policy. The full text may be available through the publisher links provided above.

Language

en

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