A SYSTEMATIC REVIEW OF THE METHODOLOGY OF ECONOMIC EVALUATIONS OF POPULATION-BASED SCREENING FOR FAMILIAL HYPERCHOLESTEROLAEMIA IN CHILDREN
Author(s)
Orla Jenkins, MSc1, Molly Mattsson, PhD2, Vivian Umeokwoaka, MPH2, Laura Comber, PhD3, Michelle O'neill, MSc4, Conor Teljeur, BS, MSc, PhD5, Mairin Ryan, PhD5.
1Health Services Researcher, Health Information and Quality Authority, Galway, Ireland, 2Health Information and Quality Authority (HIQA), Cork, Ireland, 3Health Information and Quality Authority (HIQA), Dublin, Ireland, 4Health Information and Quality Authority, Cork, Ireland, 5Health Information and Quality Authority, Dublin, Ireland.
1Health Services Researcher, Health Information and Quality Authority, Galway, Ireland, 2Health Information and Quality Authority (HIQA), Cork, Ireland, 3Health Information and Quality Authority (HIQA), Dublin, Ireland, 4Health Information and Quality Authority, Cork, Ireland, 5Health Information and Quality Authority, Dublin, Ireland.
OBJECTIVES: Familial hypercholesterolaemia (FH) affects approximately one in 300 people but remains underdiagnosed. Early detection and treatment can reduce the cumulative burden of cholesterol exposure, and in turn premature cardiovascular events. This systematic review, conducted as part of a health technology assessment, sought to assess approaches taken to modelling the expected costs and benefits of population-based screening programmes for FH in children, and of cascade testing of their relatives.
METHODS: An electronic search was conducted on 8 April 2026 in MEDLINE, CINAHL, Embase, Cochrane Library and INAHTA databases from inception, supplemented by forward and backward citation, and grey literature searches. Two independent reviewers performed study selection, data extraction and quality appraisal.
RESULTS: Eight studies were included, mostly published in the past ten years. Half were conducted in European settings. Studies performed cost-utility analyses (n=3), cost-effectiveness analyses (n=2) or both (n=3), using various model types. Most studies adopted a lifetime horizon and a public payer perspective. Substantial heterogeneity in the design of screening programmes modelled, such as screening age, screening stages and settings, limited comparability. Some assumptions around model parameters, including screening uptake, treatment commencement and treatment effect, may not reflect real world conditions. Across studies, concerns were noted for lack of transparency and justification of key parameter values, and lack of assessment of internal and external validity.
CONCLUSIONS: The findings are highly context specific. Several common modelling features were identified including: a hybrid decision tree and Markov model, a lifetime horizon, and a healthcare perspective. Parameter values for screening detection rate and treatment effects based on international meta-analyses may also be generalisable to other countries. In the context of evidence for decision making, careful consideration must be given to modelling feasible screening and treatment pathways, that maximises screening uptake and treatment effectiveness.
METHODS: An electronic search was conducted on 8 April 2026 in MEDLINE, CINAHL, Embase, Cochrane Library and INAHTA databases from inception, supplemented by forward and backward citation, and grey literature searches. Two independent reviewers performed study selection, data extraction and quality appraisal.
RESULTS: Eight studies were included, mostly published in the past ten years. Half were conducted in European settings. Studies performed cost-utility analyses (n=3), cost-effectiveness analyses (n=2) or both (n=3), using various model types. Most studies adopted a lifetime horizon and a public payer perspective. Substantial heterogeneity in the design of screening programmes modelled, such as screening age, screening stages and settings, limited comparability. Some assumptions around model parameters, including screening uptake, treatment commencement and treatment effect, may not reflect real world conditions. Across studies, concerns were noted for lack of transparency and justification of key parameter values, and lack of assessment of internal and external validity.
CONCLUSIONS: The findings are highly context specific. Several common modelling features were identified including: a hybrid decision tree and Markov model, a lifetime horizon, and a healthcare perspective. Parameter values for screening detection rate and treatment effects based on international meta-analyses may also be generalisable to other countries. In the context of evidence for decision making, careful consideration must be given to modelling feasible screening and treatment pathways, that maximises screening uptake and treatment effectiveness.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
EE623
Topic
Economic Evaluation, Health Service Delivery & Process of Care, Study Approaches
Disease
Cardiovascular Disorders (including MI, Stroke, Circulatory)