A MULTI-PERSPECTIVE ECONOMIC ANALYSIS OF POPULATION GENETIC SCREENING FOR FAMILIAL HYPERCHOLESTEROLEMIA IN THE UNITED STATES

Familial hypercholesterolemia is an underdiagnosed genetic metabolic condition, limiting the clearance of low-density lipoprotein cholesterol and increasing lifetime risk of cardiovascular disease. Population genetic screening in unselected individuals could identify cases of familial hypercholesterolemia and enable early prevention, but the economic impact of widespread screening on patients has not been studied. I assessed the cost-effectiveness of population genetic screening for familial hypercholesterolemia in 20 and 35-year-old adults in the United States from the perspective of patients, healthcare providers, and payers. I developed a decision tree Markov hybrid model to examine diagnoses, cardiovascular disease, cardiac events, quality of life, and costs under population genetic screening compared to family-based cascade testing. While population genetic screening increased diagnoses and reduced incidence of cardiovascular disease, population genetic screening was not cost-effective to patients, providers, and commercial payers compared to cascade testing at current levels of willingness to pay. Population genetic screening was a cost-saving strategy due to improving patient cardiovascular health outcomes for Medicare as a payer. Future research studies are needed to explore how declining genetic testing costs, combined screening with other genetic conditions, additional rounds of cascade testing, and creative cost-sharing arrangements could improve the cost-effectiveness and affordability of population genetic screening in the US.