OBJECTIVES: Heterozygous familial hypercholesterolemia (FH) is a genetic lipid metabolism disorder that affects approximately 1 in 250 people in the United States. FH leads to dramatically increased low-density lipoprotein (LDL) levels and increased myocardial infarction (MI) and stroke risk, but most patients with FH remain undiagnosed and could be treated with statins. While several studies have evaluated the cost effectiveness of testing high risk patients via cascade screening, no recent studies have assessed the economic value of population-wide or universal screening.

METHODS: We developed a Markov model to compare FH genomic screening versus no screening in a general population of 55-year old men. The model included 9 health states focused on treatment, LDL-cholesterol levels, MI, and stroke. FH variant prevalence was 0.4%. Parameter estimates were obtained from published sources within the literature. Genomic sequencing test cost was assumed to be $250. We used a limited societal perspective and lifetime horizon. One-way sensitivity analyses were performed to identify key drivers of model results.

RESULTS: Preliminary results indicate 0.0001 QALYs were gained per screened individual, with an incremental cost of approximately $320, resulting in an ICER of approximately $3.2M per QALY gained. Incremental QALYs were small due to the small number of FH variant carriers in the general population. Additionally, assumptions made about the proportion of the population, both with and without FH variants, already using statins and whether they achieve clinical LDL-targets limit QALYs gained. Model results were primarily driven by the relative risk of MI from statin use, the relative risk of stroke from statin use, and prevalence of FH variants within the general population.

CONCLUSIONS: Standalone population-wide screening for FH does not appear to be cost-effective. However, the value of FH screening should be assessed within the context of a broader multiplex screening panel for identifying multiple disease risks.