Unpacking polygenic scores

A new set of briefing notes to help you understand polygenic scores, the complexities of implementation and potential solutions


PHG Foundation has published a series of on-point briefings to help you get to grips with polygenic scores, describing and providing solutions to some of the key challenges in this field.

Polygenic scores are generating 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. And is that information any good?

We have distilled findings from our extensive independent research (highlighted in Genome UK: 2022 to 2025 implementation plan for England) into a series of briefing notes  for anyone needing a clear and concise understanding of the fundamental issues around polygenic scores and potential ways to resolve them. 

Unpacking polygenic scores    Explains the basics of what polygenic scores are and how they are calculated.

Application of polygenic scores in healthcare     Describes potential applications of polygenic score analysis in healthcare.

Polygenic score analysis: the test pipeline   Outlines how to understand polygenic scores as a test pipeline so that they may be effectively evaluated.  

Regulating polygenic score devices and tests    Identifies where particular regulatory challenges lie and how they might be addressed.

The path to using polygenic scores in healthcare    Discusses challenges that need to be addressed to achieve responsible and effective implementation in healthcare

Read these short briefings for  clear, concise and balanced insight into the potential of polygenic scores for disease prevention and care, helping you to separate the substance from the hype.


PHG Foundation’s senior expert on polygenic scores, Dr Sowmiya Moorthie, does a bit more unpacking of the issues in her recent podcast

Go deeper

For those looking to explore polygenic scores and their use in risk prediction more deeply our reports on the topic are all free to download. 

Excellent report highlighting how we can incorporate polygenic scores, a measure of genetic predisposition to a disease, as part of risk prediction models in cancer screening and therapeutics. 

Sense About Science on 'Polygenic scores for cancer' (via Twitter)

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