ArticleEuropean heart journal2017
Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK.
Article in European heart journal, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 6 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- A Critical Systematic Review of Modelling Approaches and Methodologies used in Hyperlipidaemia Economic Evaluations.PharmacoEconomics · 2026Pooled it
- Synthesized economic evidence on the cost-effectiveness of screening familial hypercholesterolemia.Global health research and policy · 2024Pooled it
- Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.PharmacoEconomics · 2024Pooled it
- A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Pooled it
- Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.Ontario health technology assessment series · 2022Pooled it
- New Case Detection by Cascade Testing in Familial Hypercholesterolemia: A Systematic Review of the Literature.Circulation. Genomic and precision medicine · 2019Pooled it
- Implementing Genetic Cascade Testing for Familial Hypercholesterolemia in Primary Care: Patient and General Practitioner Experiences.International journal of behavioral medicine · 2026Article
- Building a Precision Health Ecosystem: Singapore's Approach to Innovation through the Clinical Implementation Pilots.NPJ genomic medicine · 2026Review
- Enhancing the detection of familial hypercholesterolaemia in general practice: A model for supporting genetic cascade testing in the community.European journal of human genetics : EJHG · 2026Article
- Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults.Lipids in health and disease · 2025Article
- Brazilian Guideline on Dyslipidemias and Prevention of Atherosclerosis - 2025.Arquivos brasileiros de cardiologia · 2025Article
- Genomic and Precision Medicine Approaches in Atherosclerotic Cardiovascular Disease: From Risk Prediction to Therapy-A Review.Biomedicines · 2025Review
- Cost-effectiveness of universal genetic screening for familial hypercholesterolemia in young adults aged 18-40 years in China.BMC medicine · 2025Article
- A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis.American journal of preventive cardiology · 2025Article
- Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy.Familial cancer · 2024Review
- Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.Implementation science : IS · 2024Article
- Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?Current atherosclerosis reports · 2023Review
- Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.BMJ public health · 2023Article
- Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.Health technology assessment (Winchester, England) · 2023Article
- Premature morbidity and mortality associated with potentially undiagnosed familial hypercholesterolemia in the general population.American journal of preventive cardiology · 2023Article
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7 authors.
Funding
Abstract
aimsFamilial 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
resultsA 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.
conclusionCascade 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.
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