Statistical methodologies to inform evidence based evaulation of the use of polyg

Emory University, Atlanta GA

Investigators

Abstract

Genome-wide association studies have identified common genetic variants associated with common cancers, including colorectal cancer, breast cancer, prostate cancer, lung cancer and esophageal cancer. These variants can be combined to create polygenic models, through which the additive effects of genes, along with environmental determinants, create a normal distribution of disease risk in the population. Polygenic models and polygenic inheritance lead to low individual risk prediction. However, it is unclear if polygenic models could be useful as risk stratifiers in population screening to target population subgroups at high risk and reduce screening in population subgroups at low risk.