Value of genetic testing in the prevention of coronary heart disease events

Abstract

BackgroundThe health economic evidence about the value and optimal targeting of genetic testing in the prevention of coronary heart disease (CHD) events has remained limited and ambiguous. The objective of this study is to optimize the population-level use and targeting of genetic testing alongside traditional risk factors in the prevention of CHD events and, thereby, to assess the cost-benefit of genetic testing.Methods and findingsWe compare several strategies for using traditional and genetic testing in the prevention of CHD through statin therapy. The targeting of tests to different patient segments within these strategies is optimized by using a decision-analytic model, in which a patient’s estimated risk of CHD is updated based on test results using Bayesian methods. We adopt the perspective of healthcare sector. The data for the model is exceptionally wide and combined from national healthcare registers, the Finnish Institute for Molecular Medicine, and published literature. Our results suggest that targeting genetic testing in an optimal way to those patients about which traditional risk factors do not provide sufficiently accurate information results in the highest expected net benefit. In particular, compared to the use of traditional risk factors only, the optimal use of genetic testing would decrease the expected costs of an average patient aged 45 years or more by 2.54€ in a 10-year follow-up period while maintaining the level of the expected health outcome. Thus, genetic testing is found to be a part of a cost-beneficial testing strategy alongside traditional risk factors. This conclusion is robust to reasonable changes in model inputs.ConclusionsIf targeted optimally, the use of genetic testing alongside traditional risk factors is cost-beneficial in the prevention of CHD.

Integrating a Polygenic Risk Score for Coronary Artery Disease as a Risk Enhancing Factor in the Pooled Cohort Equation is Cost-effective in a US Health System

“…Our results support the growing body of evidence of the health and economic benefits of using PRS to determine an individual's risk for complex chronic conditions, including cardiovascular diseases, and for informing preventive therapy decisions. 18,19 Implementing CAD-PRS as an additional risk enhancing factor to reclassify individuals identified with borderline or intermediate risk of ASCVD with the PCE could save more than $500, $2,200, and $9,000 per additional high-risk individual identified in 5 year, 10 year, and lifetime time horizons, respectively, while at the same time improving quality of life.…”

“…The cost of PRS testing and statin adherence were the main drivers of the cost-effectiveness of PCE+PRS, particularly in the 5 year time horizon, although the probability of death from acute CAD and the cost of non-fatal acute CAD and ischemic stroke in the 10 year and lifetime time horizons were also important, consistent with previous studies. 18,19 For the 5 year time horizon, PCE+PRS was cost-saving when the cost of PRS testing and the percentage of the cohort adherence to statin were less than $155 and 35%, respectively, but remained cost-effective at all parameter values. Nevertheless, when viewed across the lifetime of the cohort, PCE+PRS was both cost-saving and cost-effective regardless of parameter estimate uncertainty ranges (supplementary material, Figures S1 and S2).…”

Precision Medicine and Public Health: New Challenges for Effective and Sustainable Health

“…As a consequence, the integrated use of PGS with other risk algorithms using environmental factors has been proposed to predict the risk of chronic conditions in common clinical practice [ 26 ]. Among the chronic diseases, CVD appears to be the condition with the largest set of data and with potentials for the implementation of a cost-effective PGS [ 27 ]. Currently, the clinical guidelines for CVD primary prevention do not recommend the use of genetic data for risk assessment, since all PGS found to have high predictive power failed to modify treatments in a cost-effective manner or to motivate subjects to change their lifestyles [ 28 , 29 ].…”

Post‐GWAS Polygenic Risk Score: Utility and Challenges

“…Another concern with the PRS is its cost effectiveness. Although there have been no studies of the economic cost of PRS in osteoporosis, studies in the field of cancer (43) and cardiovascular disease (44) suggest that the PRS is cost effective in the prevention or improved management of disease. At present, it is quite feasible to generate the PRS with hundreds of thousands or even millions of SNPs for less than $100.…”