Nherera, L., Marks, D., Minhas, Rubin, Thorogood, Margaret and Humphries, Steve E. (2011) Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies. Heart, Vol.97 (No.1175). e1181. doi: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/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.

Item Type:	Journal Article
Subjects:	R Medicine > RA Public aspects of medicine
Divisions:	Faculty of Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH):	Medical screening -- Cost effectiveness, Hypercholesteremia -- Diagnosis -- Cost effectiveness, Hypercholesteremia -- Diagnosis -- Evaluation
Journal or Publication Title:	Heart
Publisher:	B M J Group
ISSN:	1355-6037
Official Date:	2011
Dates:	Date Event 2011 Published
Date of first compliant deposit:	17 December 2015
Volume:	Vol.97
Number:	No.1175
Page Range:	e1181
DOI:	10.1136/hrt.2010.213975
Status:	Peer Reviewed
Publication Status:	Published
Access rights to Published version:	Restricted or Subscription Access
Funder:	National Collaborating Centre for Primary Care (Great Britain) (NCCPC), National Institute for Health and Clinical Excellence (Great Britain) (NICE)

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