OBJECTIVES: Genetic-guided pharmacotherapy (PGx) is not recommended in clinical guidelines for patients at risk of or diagnosed with cardiovascular diseases (CVD). We examine the extent and quality of evidence from economic evaluations (EEs) of PGx in CVD, and the associations between PGx characteristics and findings.

METHODS: From systematic searches across six databases, two independent reviewers screened, extracted data, and rated the methodological quality of EEs. We described the type of CVDs, country, purpose of testing, comparator, type of EE, model design and findings.

RESULTS: The 92 papers included examined PGx for coronary artery disease (n=35), atrial fibrillation (n=18), familial hypercholesterolemia (n=18), venous thromboembolism (n=10), and others (n=11), largely from North America (n=42) or Europe (n=34). Most EEs were model-based cost-utility/effectiveness analyses comparing PGx testing to; select the best pharmacotherapy (n=40), select the best dose (n=20), detect CVD early (n=16), or predict the disease prognosis (n=12), against no testing (n=89). Of 362 comparisons reporting quality-adjusted life years, 256 found a positive INMB (199 cost-effective, 60 dominant) and 98 negative INMB (76 not cost-effective, 22 dominated) for PGx. Most accounted for the effect of PGx using relative risk reduction (n=41), lower probabilities of adverse events (n=23), time within treatment biomarker’s therapeutic range (n=15) or test accuracy (n=13). Of 783 variables tested in one-way sensitivity analyses, 154 changed conclusions; these were epidemiological variables (n=74), cost/unit price/resource use (n=29), effectiveness/relative effectiveness (n=35), or utility (n=13).

CONCLUSIONS: Economic evaluation have included a range of CVDs, settings, purposes of PGx and designs. We will discuss our findings with respect to data collection and model structures, PGx characteristics associated with value for money, challenges to data and methods of analysis.