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/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 £20 000 and £30 000 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.
- cascade testing
- delivery of care
- DNA testing cost-effectiveness
- familial hypercholesterolaemia
- lipid lowering
- public health
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Funding The National Collaborating Centre for Primary Care was commissioned and funded by the National Institute for Health and Clinical Excellence to develop the guideline for the identification and management of adults and children with familial hypercholesterolaemia. This paper reports work that was undertaken at the request of the Guideline Development Group. The full guideline can be accessed at http://www.nice.org.uk/Guidance/CG71. SEH would like to acknowledge grants PG2008/008 from the British Heart Foundation.
Competing interests LN, RM, MT and SEH were members of the Guideline Development Group for the guideline for the identification and management of adults and children with familial hypercholesterolaemia. DM has no conflicts to declare. Any opinions expressed in this paper are those of the authors and are not intended to represent those of any affiliated organisations.
Provenance and peer review Not commissioned; externally peer reviewed.