Why this paper about polygenic risk scores is highly misleading
Upon reading the study’s findings, Prevent Breast Cancer Co-Founder and Honorary President Lester Barr and Scientific Patron Professor Gareth Evans released a joint statement:
“The headline that genetic risk scores ‘do not have a place in public health screening’ is akin to saying that a set of bicycle handlebars is useless because you can’t cycle to work on them. In the same way that handlebars are designed to be used in combination with a bicycle frame and two wheels, polygenic risk scores are not designed to be used on their own, but in combination with other things.
The authors of this study are being disingenuous in presenting results for risk stratification using a polygenic risk score and age alone. Many other known risk factors are easily available and can be used alongside a risk score in existing risk models, such as CanRisk and Tyrer-Cuzick. Assertions about not using a polygenic risk score are tantamount to saying you should not use any risk factor information to assess risk.
The huge amount of negative publicity for polygenic risk scores generated from this paper is highly misleading. In the case of breast cancer diagnosis, these scores produce an incredibly accurate prediction of future breast cancer risk when used in combination with an analysis of lifestyle and other risk factors such as breast density. This has been verified in a clinical study of over 50,000 women, called Predicting the Risk of Cancer at Screening, or PROCAS.
Medicine is always evolving, and we are moving on to using risk algorithms in clinical practice – of which polygenic risk scores are proving a crucial part. Don’t throw away the handlebars – we are going to need them – so we can confidently say we can predict an individual woman’s risk of developing breast cancer in their lifetime.”