A long hard look at polygenic scores

By Philippa Brice

18 September 2019


The PHG Foundation has released a new report examining the status of polygenic scores for common disease risk assessment and prevention.

Polygenic scores, risk and cardiovascular disease is now freely available

The report looks at the science behind this exciting and sometimes contentious field and at potential applications, as well as setting out the landscape of cardiovascular disease prevention, and examining the current evidence for the use of polygenic scores in this context.

It finds that whilst there is considerable potential for utility of polygenic scores for more personalised prevention of cardiovascular disease, at present there is a lack of evidence to support clinical implementation.

In his foreward to this PHG Foundation report, Prof John Newton (Director of Health Improvement, Public Health England) commented:

'This report, Polygenic scores, risk and cardiovascular disease, provides an excellent summary of the basis, use and appraisal of polygenic scores for disease risk that anyone working in common disease prevention will find helpful'

PHG Foundation Director Dr Mark Kroese said:

'We are delighted to release this report from our work examining the true potential of polygenic scores for risk prediction and prevention of common disease – and what is still needed to make this a reality. I hope this will prove useful to anyone who wants to understand the underlying science, and its application to personalised prevention of common diseases'

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