Table 3.

Overview of most significant outcomes in genetic/genomic research in common cardiovascular diseases (CVDs) according to the framework for translational research.

	T1 phase: discovery to candidate health application	T2 phase: health application to evidence-based practice guideline	T3 phase: guidelines to health practice	T4 phase: practice to population health impact
Genome-based prediction of common CVDs	–Numerous genetic alterations were associated with numerous phenotypes in single-gene studies (24–127) –9p21 locus shows powerful association with coronary heart disease, myocardial infarction in several genome-wild associations (114, 137–141) –Total-cholesterol risk profile (based on 11 SNPs) improves identification of subjects at high risk of dyslipidemia (144) –Combining Framingham risk score and genetic risk score (GRS) (based on 336 SNPs related to TC, LDL-C, HDL-C, and TG) slightly improves clinical accuracy (146) –GRS (based on 28 variants) improves the risk discrimination of coronary heart disease over and above traditional risk factors (147) –Overall GRS (computed from 395 variants) increases risk classification of coronary heart disease beyond established risk factors (149)	–Evaluation of Genomic Applications in Practice and Prevention Working Group does not recommend testing for 9p21 genetic variant or other 57 SNPs in 28 genes to assess the risk of heart disease and stroke (161)	None	None
Genetic testing to improve diagnostic accuracy	–Combining GRS (computed from 31 SNPs) and non-genetic risk factors increases the diagnostic accuracy of venous thrombosis (150)	None	None	None
Genetic testing to improve prognostic accuracy	None	None	None	None
Genome-based prediction of treatment response	–Antiplatelet therapy guided by CYP2C19 gene testing for loss-of-function/gain-of-function (GOF) alleles improves cardiovascular prognosis (157, 158)	–MTHFR genetic testing for 677C>T homozygosity has minimal clinical utility, not recommended as a part of routine evaluation for thrombophilia (161, 166–169)	None	–Loss-of function/GOF-guided personalized antiplatelet therapy has the highest quality-adjusted life-years at lowest lifelong cost (simulation study) (171)