Polygenic scores and risk

Polygenic scores are a source of considerable debate in the biomedical and healthcare communities. Can they or can they not provide information that can be used in the prevention of common complex diseases?
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Genetics plays an important role in the development of many diseases. For common conditions such as cardiovascular disease and diabetes, genetic risk is often identified through large-scale association studies that discover multiple genetic variants statistically linked to disease.

One recent development, polygenic scores, aggregate information from these multiple variants into a single score that may be used in the prediction of disease risk. Crucially, however, factors  such as lifestyle, environment, and social conditions also shape disease risk. Genetics is just one piece in the risk prediction puzzle.
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Listen to the podcast episode ‘Polygenic scores: one size does not fit all’
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Evaluation of polygenic risk score applications

Polygenic scores are likely to be useful under certain circumstances. Identifying these and creating optimal systems for their use requires a more focused approach to evidence generation and appraisal which is currently lacking.

Published 2023

Read here
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Policy briefings

Published 2023
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Reports
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Polygenic scores for cancer provides an overview of what is known about polygenic scores and what they could mean for cancer prediction, prevention and management.

Polygenic scores for cancer

Published 2022
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We evaluate the NHS Health Check programme as a possible exemplar for the introduction of the routine use of polygenic score analysis.

Implementing polygenic scores for cardiovascular disease into NHS Health Checks

Published 2021
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Sets out concepts around clinical utility, the landscape of genetic test evaluation and regulation to consider how to better assess the potential utility of polygenic scores in healthcare.

Polygenic scores and clinical utility

Published 2021
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Blue DNA strand

Our report examines the current evidence and readiness for clinical implementation of polygenic scores from the perspective of cardiovascular disease prevention.

Polygenic scores, risk and cardiovascular disease

Published 2019
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Page created: 26 September 2025

Page updated: 9 March 2026
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