Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies


Nherera, L; Marks, D; Minhas, R; Thorogood, M; Humphries, SE; (2011) Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart (British Cardiac Society), 97 (14). pp. 1175-1181. ISSN 1355-6037 DOI: https://doi.org/10.1136/hrt.2010.213975

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Abstract

Objective To estimate the probabilistic cost-effectiveness of cascade screening methods in familial hypercholesterolaemia (FH) from the UK NHS perspective. Design Economic evaluation (cost utility analysis) comparing four cascade screening strategies for FH: Using low-density lipoprotein (LDL) cholesterol measurements to diagnose affected relatives (cholesterol method); cascading only in patients with a causative mutation identified and using DNA tests to diagnose relatives (DNA method); DNA testing combined with LDL-cholesterol testing in families with no mutation identified, only in patients with clinically defined 'definite' FH (DNA+DFH method); DNA testing combined with LDL-cholesterol testing in no-mutation families of both 'definite' and 'probable' FH patients (DNA+DFH+PFH). A probabilistic model was constructed to estimate the treatment benefit from statins, with all diagnosed individuals receiving high-intensity statin treatment. Population A cohort of 1000 people suspected of having FH aged 50 years for index cases and 30 years for relatives, followed for a lifetime. Main outcomes Costs, quality-adjusted life-years (QALY) and incremental cost-effectiveness ratios (ICER). Results The DNA+DFH+PFH method was the most cost-effective cascade screening strategy. The ICER was estimated at 3666 pound/QALY. Using this strategy, of the tested relatives 30.6% will be true positives, 6.3% false positives, 61.9% true negatives and 1.1% false negatives. Probabilistic sensitivity analysis showed that this approach is 100% cost-effective using the conventional benchmark for cost-effective treatments in the NHS of between 20 pound 000 and 30 pound 000 per QALY gained. Conclusion Cascade testing of relatives of patients with DFH and PFH is cost-effective when using a combination of DNA testing for known family mutations and LDL-cholesterol levels in the remaining families. The approach is more cost-effective than current primary prevention screening strategies.

Item Type: Article
Keywords: ACUTE CORONARY SYNDROMES, MUTATION DETECTION RATE, PROSPECTIVE, REGISTRY, GENETIC CAUSES, HEART-DISEASE, RISK, ATORVASTATIN, CHOLESTEROL, SIMVASTATIN, CHILDHOOD
Faculty and Department: Faculty of Public Health and Policy > Dept of Social and Environmental Health Research
PubMed ID: 21685482
Web of Science ID: 291718100013
URI: http://researchonline.lshtm.ac.uk/id/eprint/418

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