Genetic risk scores used in cardiovascular disease prediction models: a systematic review

Cardiovascular disease is caused by a combination of genetic and environmental risk factors. Some risk factors can change with age, but a genetic predisposition is permanent. Therefore, identifying the genotype of cardiovascular disease and using it alone or in combination with existing risk algorithms can improve risk prediction. This systematic review was conducted to examine existing studies on predictive models for cardiovascular disease using genetic risk score and to determine the clinical utility.

An electronic database search was conducted to identify studies published from January 2005 to July 2020. The literature search was performed using the search terms "coronary artery disease", "coronary heart disease", "cardiovascular diseases", "genetic risk score", and "polygenic risk score".

Through systematic review, 29 studies were identified. In most studies, genetic risk score was associated with the incidence of cardiovascular disease. In 23 studies, clinical utility was improved based on discrimination between or reclassification of subjects who did and did not experience an event, but the improvement was modest.

The predictive model for cardiovascular disease using genetic risk score has limited usefulness in clinical practice due to methodological heterogeneity of genetic risk score constructs. Further research to develop a standardized protocol of genetic risk score constructs and validation studies with various cohorts from diverse populations are required.