Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK

Marion Kerr, Robert Pears, Zofia Miedzybrodzka, Kate Haralambos, Moyra Cather, Melanie Watson, Steve E Humphries

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)1832-1839
Number of pages8
JournalEuropean Heart Journal
Volume38
Issue number23
Early online date6 Apr 2017
DOIs
Publication statusPublished - 14 Jun 2017

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Hyperlipoproteinemia Type II
Cost-Benefit Analysis
Costs and Cost Analysis
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Mutation
Inborn Genetic Diseases
Premature Mortality
Patents
National Institutes of Health (U.S.)
Health Care Costs
Coronary Disease
Quality of Life
Morbidity
Delivery of Health Care
Mortality
DNA

Keywords

  • Journal Article
  • familial hypercholesterolaemia
  • Markov model
  • cost effectiveness
  • cascade testing

Cite this

Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. / Kerr, Marion; Pears, Robert; Miedzybrodzka, Zofia; Haralambos, Kate; Cather, Moyra; Watson, Melanie; Humphries, Steve E.

In: European Heart Journal, Vol. 38, No. 23, 14.06.2017, p. 1832-1839.

Research output: Contribution to journalArticle

Kerr, Marion ; Pears, Robert ; Miedzybrodzka, Zofia ; Haralambos, Kate ; Cather, Moyra ; Watson, Melanie ; Humphries, Steve E. / Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. In: European Heart Journal. 2017 ; Vol. 38, No. 23. pp. 1832-1839.
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