What Are Polygenic Risk Scores?

Advancements in science mean we can now measure an individual’s genetic risk of developing different types of common diseases.  These risks can be measured years before symptoms develop, and include common preventable killers such as cardiovascular disease, Type 2 diabetes and many types of cancers.  Genetic risk is a very powerful predictor that can explain large variations in disease incidence.

A polygenic risk score for a disease can be a more powerful risk factor than all other risk factors combined.  The possibility of a single test measuring susceptibility to many common diseases simultaneously opens up the possibility of true preventative healthcare. 

Professor Sir Peter Donnelly is emeritus professor at the University of Oxford, where he was formerly Director of the Wellcome Centre for Human Genetics from 2007-2017, and CEO and co-founder of Genomics plc. Sir Donnelly is an international leader in human and statistical genetics, and has played a leading role over the last 20 years in the explosion of our knowledge of genetic variants associated with human diseases and traits. 

Want to learn more about polygenic risk scores? Check out the resources below:

• A polygenic risk score added to a QRISK®2 cardiovascular disease risk calculator demonstrated robust clinical acceptance and clinical utility in the primary care setting
• Why are polygenic risk scores important?