Advances in genomics are having a big impact on healthcare, especially for identifying rare diseases. Common diseases also have a significant genetic component, but this is usually the combined effect of many genetic variants, rather than one variant with a big effect. Along with the interplay of many non-genetic factors that play a role in disease development, this makes interpretation of genetic information more complex.
Polygenic risk scores (PRS) combine information from multiple genetic variants into a single score that can be used to examine risk. Recent advances in this field have reignited interest in using genetic information in personalised prevention approaches for common conditions such as cancer and heart disease.
Our work in this area aims to keep pace with the rapidly developing science to produce timely and relevant policy intelligence and insights, and to support the delivery of real health benefits.
Our report, Polygenic scores, risk and cardiovascular disease examines the current evidence for using polygenic scores for risk prediction and cardiovascular disease prevention.
There are differing opinions as to the value of genetic information in the form of polygenic scores and how these could be used in disease prevention. Much of this is due to differing views of clinical utility which can hinder uptake. We are working with stakeholders to bring together key concepts around clinical utility and test evaluation frameworks in order to better assess the potential utility of PRS in healthcare.
Another element of our work is investigating potential ethical, psychological and societal impacts of using polygenic scores. How might knowledge of polygenic risk prompt changing prescribing practice by health professionals or behaviour change in patients? What additional support might be needed to generate and sustain these changes in behaviour (whether medical interventions or lifestyle changes) to reduce or manage risk, a crucial element of personalised prevention approaches?
If you’re interested in this project or others, you can get in touch with us at: firstname.lastname@example.org