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

Autor: Marion Kerr, Z. Miedzybrodzka, M. Cather, Melanie Watson, Kate Haralambos, Robert Pears, Steve E. Humphries
Rok vydání: 2016
Předmět:
Adult
Male
Cascade testing
Index (economics)
Prevention and Epidemiology
Adolescent
Cost effectiveness
Cost-Benefit Analysis
Familial hypercholesterolemia
030204 cardiovascular system & hematology
Hyperlipoproteinemia Type II
03 medical and health sciences
Young Adult
0302 clinical medicine
Age Distribution
Quality of life
Cost of Illness
Clinical Research
Medicine
Humans
030212 general & internal medicine
Genetic Testing
Child
Index case
health care economics and organizations
Aged
Aged
80 and over

business.industry
Infant
Newborn

Infant
Middle Aged
medicine.disease
Markov model
Coronary heart disease
Markov Chains
United Kingdom
Pedigree
Child
Preschool

Mutation
Female
Quality-Adjusted Life Years
Familial hypercholesterolaemia
Cardiology and Cardiovascular Medicine
business
Incremental cost-effectiveness ratio
Demography
Zdroj: European Heart Journal
ISSN: 1522-9645
Popis: 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.
Databáze: OpenAIRE