Polygenic risk scores: What are they and what can public health do with them?

In recent years, findings from genome-wide association studies (GWAS) have been used to generate polygenic risk score models for various complex diseases. These models combine variants from many genes to predict inherited relative risk, in contrast to more traditional methods that only consider the role of one or a few genes in disease risk. While the development and validation of polygenic risk scores may hold considerable promise to impact disease prevention and health promotion in the future, the present value of applying such models in clinical medicine and public health practice remains debatable. This mini-course will provide an introduction to polygenic risk score models, including examples for cancer and cardiovascular disease. Discussions will include how to develop and validate these models.