Abstract
Widespread familial hypercholesterolemia screening requires a large upfront economic investment, but the health benefits and cost savings of cardiovascular disease prevention directed by screening occur over many years. We evaluated the cost-effectiveness of population genetic screening for familial hypercholesterolemia compared to cascade testing to US payers while accounting for patient insurance switching between commercial and Medicare insurance. We developed a hybrid decision-tree Markov model to assess genetic screening in 20-year-old adults over a lifetime horizon in which cohort members transitioned between commercial payers representing three commercial plans and Medicare. Health state and coverage transition probabilities, utilities, and event costs were primarily sourced from published literature. We estimated incremental cost-effectiveness ratios per quality-adjusted life year gained and conducted probabilistic and one-way sensitivity analyses to explore parameters. Population genetic screening cost an additional $1,024,126, $495,909, and $479,170 per quality-adjusted life year gained for the high, medium, and low benefit commercial payers. Medicare experienced both cost savings and greater quality-adjusted life years in its members under population genetic screening. Insurance switching substantially affects the cost-effectiveness of population genetic screening for familial hypercholesterolemia to US payers. Future research examining screening and treatments for other rare diseases that require high investment early in life for downstream health benefits should consider the impact of insurance switching in the US.
Published Version
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