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    Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia

    Access Status
    Fulltext not available
    Authors
    Ademi, Z.
    Watts, G.
    Pang, J.
    Sijbrands, E.
    Van Bockxmeer, F.
    O'Leary, Peter
    Geelhoed, E.
    Liew, D.
    Date
    2014
    Type
    Journal Article
    
    Metadata
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    Citation
    Ademi, Z. and Watts, G. and Pang, J. and Sijbrands, E. and Van Bockxmeer, F. and O'Leary, P. and Geelhoed, E. et al. 2014. Cascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia. Journal of Clinical Lipidology. 8 (4): pp. 390-400.
    Source Title
    Journal of Clinical Lipidology
    DOI
    10.1016/j.jacl.2014.05.008
    ISSN
    19332874
    School
    Centre for Population Health
    URI
    http://hdl.handle.net/20.500.11937/40089
    Collection
    • Curtin Research Publications
    Abstract

    Background: Familial hypercholesterolemia (FH) imposes significant burden of premature coronary heart disease (CHD). Objective: This study aimed to determine the cost-effectiveness of FH detection based on genetic testing, supplemented with the measurement of plasma low-density lipoprotein cholesterol concentration, and treatment with statins. Methods: A Markov model with a 10-year time horizon was constructed to simulate the onset of first-ever CHD and death in close relatives of probands with genetically confirmed FH. The model comprised of 3 health states: “alive without CHD,” “alive with CHD,” and “dead.” Decision-analysis compared the clinical consequences and costs of cascade-screening vs no-screening from an Australian health care perspective. The annual risk of CHD and benefits of treatment was estimated from a cohort study. The underlying prevalence of FH, sensitivity, specificity, cost of screening, treatment, and clinic follow-up visits were derived from a cascade screening service for FH in Western Australia. An annual discount rate of 5% was applied to costs and benefits. Results: The model estimated that screening for FH would reduce the 10-year incidence of CHD from 50.0% to 25.0% among people with FH. Of every 100 people screened, there was an overall gain of 24.95 life-years and 29.07 quality-adjusted life years (discounted). The incremental cost-effectiveness ratio was in Australian dollars, $4155 per years of life saved and $3565 per quality-adjusted life years gained. Conclusion: This analysis within an Australian context, demonstrates that cascade screening for FH, using genetic testing supplemented with the measurement of plasma low-density lipoprotein cholesterol concentrations and treatment with statins, is a cost-effective means of preventing CHD in families at risk of FH.

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