Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia

Pears, Robert; Griffin, Michael D. W.; Futema, Marta; Humphries, Steve E.

doi:10.1097/mol.0000000000000173

Cited by 14 publications

(3 citation statements)

References 31 publications

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“…Patents have expired on some high-intensity statins used to treat FH, leading to substantial cost reductions, while next generation sequencing has reduced the cost of DNA tests. There is now convincing evidence that in patients with a clinical diagnosis of FH but no mutation in any of the three known FH-causing genes ( LDLR , APOB , and PCSK9 ), 9 , 10 the most likely cause of elevated LDL-C is polygenic. 11 In polygenic FH the risk of relatives having significantly raised LDL-C is much lower 12 than the 50% observed for monogenic hypercholesterolaemia.…”

Section: Introductionmentioning

confidence: 99%

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

Kerr

Pears

Miedzybrodzka

et al. 2017

European Heart Journal

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106

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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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Section: Introductionmentioning

confidence: 99%

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

Kerr

Pears

Miedzybrodzka

et al. 2017

European Heart Journal

Self Cite

106

110

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“…At this point, the screening of lipid disorders in children has been discussed. While some authors recommended the cascade screening (screening the children with a family history of early atherosclerotic disease or high cholesterol level), some studies suggested the universal screening in pediatric age group [2][3][4][5]. Oppositely, US Preventive Services Task Force concluded that there is insufficient evidence for the screening of dyslipidemia in those aged less than 20 years [6].…”

Section: Introductionmentioning

confidence: 99%

Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

Köse

Öztürk

et al. 2020

Journal of Pediatric Endocrinology and Metabolism

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ObjectivesPremature coronary artery disease is the most common preventable cause of death in developed countries, and familial hypercholesterolemia (FH) is the most common monogenetic disorder of lipid metabolism, predisposing for premature coronary artery. FH is the most common preventable cause of death in developed countries. In 2016, the national lipid screening program in school-age children has been started in Turkey. In this study, we aimed to evaluate the efficacy of lipid screening program, lipid-lowering treatments, and the challenges of treatments in children diagnosed with FH.MethodsPatients diagnosed with FH in the pediatric metabolism outpatient clinic were retrospectively evaluated. Changes in lipid profile with dietary interventions and statin treatments were assessed. The results of cascade screening were analyzed.ResultsFifty-one patients diagnosed with FH were enrolled in the study. Twenty-four (47.1%) were female. The mean age of the patients was 9.8 ± 3.2 years. Heterozygous LDLR gene mutation was detected in all patients. Three novel pathogenic variations were revealed with the genetic investigation. Forty-one (80.4%) patients had high adherence to CHILD-2 dietary recommendations. The mean low-density lipoprotein cholesterol (LDL-C) level decreased by 14.5 ± 7.6% after dietary intervention. Parents refused to start statin treatment in 8 (15.7%) patients. Statin treatment was initiated to 22 (43.1%) patients. Mean LDL-C level decreased from 204.1 ± 19.1 mg/dL to 137.0 ± 13.1 mg/dL. In cascade screening, 7 (13.7%) parents without a diagnosis of FH were diagnosed with FH. After the screening program, statin treatment was initiated for 18 (35.3%) parents and 7 (16.3%) siblings.ConclusionsWe can conclude that screening for FH in children is crucial for diagnosing FH not only in children but also in their relatives. Although statins are safe and effective in achieving the target LDL-C level, we determined significant resistance for initiating statin treatment in patients.

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“…The pedigrees and mutations were registered in a database, and whenever a new index was identified, the database was checked to see if this person might be related to a known family in the database, so genetic testing could be personalized. The program was found to be cost-effective [ 13 ]. The programme had always been regarded as a project, and when it started, it was expected that most carriers would have been detected by 2010, based upon an estimated heterozygote frequency of 1:500.…”

Section: Introductionmentioning

confidence: 99%

Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia

Baccolini

Pikó

et al. 2018

Healthcare

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In familial hypercholesterolemia (FH), carriers profit from presymptomatic diagnosis and early treatment. Due to the autosomal dominant pattern of inheritance, first degree relatives of patients are at 50% risk. A program to identify healthy relatives at risk of premature cardiovascular problems, funded by the Netherlands government until 2014, raised questions on privacy and autonomy in view of the chosen active approach of family members. Several countries are building cascade screening programs inspired by Dutch experience, but meanwhile, the Netherlands’ screening program itself is in transition. Insight in stakeholders’ views on approaching family members is lacking. Literature and policy documents were studied, and stakeholders were interviewed on pros and cons of actively approaching healthy relatives. Sociotechnical analysis explored new roles and responsibilities, with uptake, privacy, autonomy, psychological burden, resources, and awareness as relevant themes. Stakeholders agree on the importance of early diagnosis and informing the family. Dutch healthcare typically focuses on cure, rather than prevention. Barriers to cascade screening are paying an own financial contribution, limited resources for informing relatives, and privacy regulation. To benefit from predictive, personalized, and preventive medicine, the roles and responsibilities of stakeholders in genetic testing as a preventive strategy, and informing family members, need to be carefully realigned.

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Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia

Cited by 14 publications

References 31 publications

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

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

Cascade screening and treatment of children with familial hypercholesterolemia in Turkey

Stakeholder Views on Active Cascade Screening for Familial Hypercholesterolemia

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