ArticleBMC medicine2025
Cost-effectiveness of universal genetic screening for familial hypercholesterolemia in young adults aged 18-40 years in China.
Article in BMC medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Critical Systematic Review of Modelling Approaches and Methodologies used in Hyperlipidaemia Economic Evaluations.PharmacoEconomics · 2026Pooled it
- Financing and health system capacity for precision medicine in Asia: a six country landscape analysis.Health affairs scholar · 2026Review
- Steatotic Liver Disease Predicts Lower Likelihood of LDLR Gene Mutations in Young Korean Patients with Suspected Familial Hypercholesterolemia.Journal of obesity & metabolic syndrome · 2026Article
- Observational
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Authors and funding
8 authors.
Funding
Abstract
backgroundMortality from familial hypercholesterolemia (FH) remains high due to late diagnosis, and the rate of timely diagnosis remains low (< 10% globally and < 1% in China). Early screening and treatment could significantly reduce mortality risk, especially among young adults. This study aims to evaluate the cost-effectiveness of universal genetic screening of young adults aged 18-40 years compared to universal cholesterol screening or current passive screening strategies (opportunistic cholesterol screening and genetic cascade testing) for FH in China.
methodsA decision-analytic Markov model was constructed to simulate the lifetime (until 100 years old or 99% of patients died) coronary heart disease (CHD) events, discounted costs, gains in quality-adjusted life years (QALYs), and incremental cost-effectiveness ratios (ICERs) of different screening strategies. The model targeted the general population aged 18-40 years (226,869,800 males and 209,030,180 females) from a healthcare provider's perspective. Model parameters were derived from published literatures and the largest nationwide screening program of FH in China. The willingness-to-pay threshold (US$38,042) was chosen as three times the Chinese per-capita gross domestic product (GDP) in 2023. Sensitivity analyses and threshold analyses were conducted to assess the robustness of the results.
resultsUniversal genetic screening of young adults aged 18-40 years is cost-effective when compared to both current passive screening strategies and universal cholesterol screening. Compared with current passive screening, universal genetic screening could prevent 172,956 CHD events (88,766 non-fatal, 84,191 fatal) with additional costs of US$40.45 billion and gaining additional 1.23 million QALYs, corresponding to an ICER of US$32,960/QALY gained. Implementing universal genetic screening at younger ages would reduce the ICER from US$36,901/QALY to US$28,910/QALY. The model was most sensitive to the cost and sensitivity of genetic testing. If the cost of genetic testing decreased from US$96.50 to US$38.83 or $2.76, universal genetic screening would become very cost-effective or even cost-saving.
conclusionsUniversal FH genetic screening in young adults has the potential to be cost-effective in China, compared to current passive screening strategy and universal cholesterol screening strategy. Performing screening in younger age would result in better cost-effectiveness benefit.
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