Author(s)
Jahn B1, Santamaria J1, Dieplinger H2, Binder CJ3, Ebenbichler C4, Scholl-Bürgi S5, Conrads-Frank A1, Rochau U1, Kuehne F1, Stojkov I1, Todorovic J1, Siebert U6
1UMIT - University for Health Sciences, Medical Informatics and Technology, Institute of Public Health, Medical Decision Making and Health Technology Assessment, Department of Public Health, Health Services Research and Health Technology Assessment, Hall i.T., Austria, 2Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria, 3Department of Laboratory Medicine, Medical University of Vienna; Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria, 4Department of Internal Medicine, Medical University of Innsbruck, Innsbruck, Austria, 5University Clinic for Pediatrics I, Tirol Kliniken GmbH, Innsbruck, Austria, 6UMIT, Dept. of Public Health, Health Services Research & HTA / ONCOTYROL, Center for Personalized Cancer Medicine / Harvard T.H.Chan School of Public Health, Dept. Health Policy & Management / Harvard Medical School, Institute for Technology Assessment, Hall i. T., Austria
OBJECTIVES : Familial hypercholesterolemia (FH) is an inherited, often underdiagnosed and undertreated disorder, with a prevalence of 1/500 to 1/200. FH leads to an increased risk of early cardiovascular disease. The European Atherosclerosis Society recommends diagnostic screening with early treatment for this high-risk condition. The aim of this study was to systematically summarize benefits, harms and cost-effectiveness of implementing a FH-screening program and to provide an overview of main characteristics and methodological approaches of published decision-analytic models. METHODS : A semi-quantitative systematic review was conducted in MEDLINE, EconLit, CRD-databases and the CEA-registry for FH screening (2012- 2019). Studies from earlier years were included from a published systematic review (Ademi et al. 2013). Study characteristics, model types and results were systematically extracted by two assessors. Costs were transformed to 2018 Euros and (stepwise) incremental cost-effectiveness ratios (ICERs) were recalculated according to economic guidelines. Results were summarized in standardized evidence tables. RESULTS : Out of 211 retrieved studies, seven studies were included in the review in addition to six studies from the earlier review. Studies were conducted in Europe (UK, The Netherlands, Spain, Poland), USA and Australia evaluating cascade (CS), opportunistic (OS) or universal screening (US), or combinations using genetic testing and/or clinical criteria. Model types included decision trees, life-table analyses, and state-transition cohort (Markov) models. Among non-dominated CS strategies, ICERs ranged up to 37,100 EUR/quality-adjusted life‑year (QALY). US for newborns in combination with CS had an ICER below 15,000 EUR/QALY for sequential cholesterol-genetic screening. In other studies, US was dominated by OS/CS. CONCLUSIONS : Our review highlights the diversity in FH screening including many cost-effective screening programs with ICERs below 40,000 EUR/QALY. However, there is no consistent evidence on cost effectiveness of US. Future studies should consider spill-over effects to future generations and the benefits of comprehensive genetic testing supporting decisions on personalized treatment.
Conference/Value in Health Info
2020-11, ISPOR Europe 2020, Milan, Italy
Value in Health, Volume 23, Issue S2 (December 2020)
Code
PCV46
Topic
Economic Evaluation
Topic Subcategory
Cost-comparison, Effectiveness, Utility, Benefit Analysis
Disease
Cardiovascular Disorders
