TY  - JOUR
N2  - Aims: Familial hypercholesterolaemia (FH) is a vastly under-diagnosed genetic disorder, associated with early development of coronary heart disease and premature mortality which can be substantially reduced by effective treatment. Patents have recently expired on high-intensity statins, reducing FH treatment costs. We build a model using UK data to estimate the cost effectiveness of DNA testing of relatives of those with monogenic FH. Methods and results: A Markov model was used to estimate the cost effectiveness of cascade testing, using data from UK cascade services. The estimated incremental cost effectiveness ratio (ICER) was £5806 and the net marginal lifetime cost per relative tested was £2781. More than 80% of lifetime costs were diagnosis-related and incurred in the 1st year. In UK services, 23% of 6396 index cases were mutation-positive. For each mutation-positive index case, 1.33 relatives were tested, resulting overall in a rate of 0.31 tested relatives per tested index case. If the number of relatives tested per tested index case rose to 3.2 (projected by National Institute for Health and Care Excellence in 2008) the ICER would reduce to £2280 and lifetime costs to £1092. Conclusion: Cascade testing of relatives of those with suspected FH is highly cost effective. The current Europe-wide high levels of undiagnosed FH, and associated morbidity and mortality, mean adoption of cascade services should yield substantial quality of life and survival gains.
ID  - discovery1552339
KW  - Cascade testing
KW  -  Cost effectiveness
KW  -  Familial hypercholesterolaemia
KW  -  Markov model
AV  - public
Y1  - 2017/06/14/
EP  - 1839
TI  - Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK
UR  - http://doi.org/10.1093/eurheartj/ehx111
SN  - 1522-9645
A1  - Kerr, M
A1  - Pears, R
A1  - Miedzybrodzka, Z
A1  - Haralambos, K
A1  - Cather, M
A1  - Watson, M
A1  - Humphries, SE
JF  - European Heart Journal
VL  - 38
SP  - 1832
IS  - 23
N1  - Copyright © The Author 2017. Published by Oxford University Press on behalf of the European Society of Cardiology.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/),
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ER  -