Current Applications of Genetic Risk Scores to Cardiovascular Outcomes and Subclinical Phenotypes

Jennifer A. Smith, Erin B. Ware, Pooja Middha, Lisa Beacher, Sharon L. R. Kardia

Genetic risk scores are a useful tool for examining the cumulative predictive ability of genetic variation on cardiovascular disease. Important considerations for creating genetic risk scores include the choice of genetic variants, weighting, and comparability across ethnicities. Genetic risk scores that use information from genome-wide meta-analyses can successfully predict cardiovascular outcomes and subclinical phenotypes, yet there is limited clinical utility of these scores beyond traditional cardiovascular risk factors in many populations. Novel uses of genetic risk scores include evaluating the genetic contribution of specific intermediate traits or risk factors to cardiovascular disease, risk prediction in high-risk populations, gene-by-environment interaction studies, and Mendelian randomization studies. Though questions remain about the ultimate clinical utility of the genetic risk score, further investigation in high-risk populations and new ways to combine genetic risk scores with traditional risk factors may prove to be fruitful.