UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Could personalised risk prediction for type 2 diabetes using polygenic risk scores direct prevention, enhance diagnostics, or improve treatment? [version 1; peer review: awaiting peer review]

Boecker, M; Lai, AG; (2020) Could personalised risk prediction for type 2 diabetes using polygenic risk scores direct prevention, enhance diagnostics, or improve treatment? [version 1; peer review: awaiting peer review]. Wellcome Open Research , 5 p. 206. 10.12688/wellcomeopenres.16251.1. Green open access

[thumbnail of 0040f467-87ec-4b7e-a00f-9c7e5be7c422_16251_-_mathilde_boecker.pdf]
Preview
Text
0040f467-87ec-4b7e-a00f-9c7e5be7c422_16251_-_mathilde_boecker.pdf - Published Version

Download (946kB) | Preview

Abstract

Over the past three decades, the number of people globally with diabetes mellitus has more than doubled. It is estimated that by 2030, 439 million people will be suffering from the disease, 90-95% of whom will have type 2 diabetes (T2D). In 2017, 5 million deaths globally were attributable to T2D, placing it in the top 10 global causes of death. Because T2D is a result of both genetic and environmental factors, identification of individuals with high genetic risk can help direct early interventions to prevent progression to more serious complications. Genome-wide association studies have identified ~400 variants associated with T2D that can be used to calculate polygenic risk scores (PRS). Although PRSs are not currently more accurate than clinical predictors and do not yet predict risk with equal accuracy across all ethnic populations, they have several potential clinical uses. Here, we discuss potential usages of PRS for predicting T2D and for informing and optimising interventions. We also touch on possible health inequality risks of PRS and the feasibility of large-scale implementation of PRS in clinical practice. Before PRSs can be used as a therapeutic tool, it is important that further polygenic risk models are derived using non-European genome-wide association studies to ensure that risk prediction is accurate for all ethnic groups. Furthermore, it is essential that the ethical, social and legal implications of PRS are considered before their implementation in any context.

Type: Article
Title: Could personalised risk prediction for type 2 diabetes using polygenic risk scores direct prevention, enhance diagnostics, or improve treatment? [version 1; peer review: awaiting peer review]
Open access status: An open access version is available from UCL Discovery
DOI: 10.12688/wellcomeopenres.16251.1
Publisher version: https://doi.org/10.12688/wellcomeopenres.16251.1
Language: English
Additional information: This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0/
Keywords: Type 2 diabetes, polygenic risk score, genetics, risk prediction, diverse ancestry, precision medicine, personalised medicine
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Health Informatics
URI: https://discovery.ucl.ac.uk/id/eprint/10109763
Downloads since deposit
99Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item