Population-based Screening in the Era of Genomics

Abstract

To date, risk profiles based on the known common susceptibility variants have limited value in predicting the risk of disease, but they could be used for risk stratification in prevention programs at a population level. We illustrate the potential utility of polygenic risk stratification using the case of population-based screening for prostate and breast cancer. We compared the number of individuals eligible for screening and the number of cases potentially detectable by screening in a population undergoing screening based on age alone with a population undergoing stratified screening based on age and polygenic risk profile. Stratified-screening strategies based on age and genetic risk would potentially improve the efficiency of screening programs and reduce their adverse consequences. Organizational, ethical, legal and social issues need to be addressed before stratified-screening programs could be implemented.

KEYWORDS::

• breast cancer
• polygenic risk
• prostate cancer
• stratified screening

Financial & competing interests disclosure

N Pashayan is a Cancer Research UK Clinician Scientist Fellow. The research leading to these results has received funding from the European Community Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Additional information

Funding

Financial & competing interests disclosure N Pashayan is a Cancer Research UK Clinician Scientist Fellow. The research leading to these results has received funding from the European Community Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript.