title: Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia.
abstract: Although familial hypercholesterolemia (FH) confers a high risk of coronary artery disease, most patients are undiagnosed, and little is known about the efficiency of genetic cascade screening programs at national level.
  
  
  
  The aim of the study was to estimate the cost-effectiveness of a national genetic cascade screening program in Spain.
  
  
  
  An economic evaluation was performed using a decision tree analysis. The choice in the decision tree was between implementation of the national program for FH (NPFH) or keeping the usual clinical care. The NPFH detects FH patients through total cholesterol measurement at primary care level and use of genetic testing in index cases and relatives. The payer (National Health System) and social (including the productivity lost) perspectives were considered. The outcome variables were coronary events avoided, deaths avoided, and quality-adjusted life years (QALYs) gained.
  
  
  
  From the payer perspective, the application of the NPFH during 1 year prevents 847 coronary events and 203 deaths in the 9000 FH patients cohort during a 10-year follow-up, yielding an extra 767 QALYs, at a cost of €29,608 per QALY gained. From the social perspective, the NPFH is dominant over the control (the cost decreases and the effectiveness increases). The sensitivity analysis confirms the robustness of the findings.
  
  
  
  The NPFH based on molecular testing is a cost-effective diagnostic and management strategy that supports government expenditure aimed at preventing coronary artery disease in FH patients in Spain. Implementation of such a strategy is likely to be also cost-effective in countries with similar developed healthcare systems.
authors.affiliation: Health Services Researcher, Madrid, Spain. Electronic address: plazaro@gmx.es.
authors.forename: Pablo
authors.initials: P
authors.lastname: Lázaro
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain; Department of Cardiology, Hospital Clínico San Carlos, IDISSC, Universidad Complutense, Madrid, Spain.
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Pérez de Isla
authors.affiliation: Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Perth, Australia.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain; Department of Nutrition, Clínica Las Condes, Santiago de Chile, Chile.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: Department of Health Policy and Management, School of Public Health, Curtin University, Western Australia, Australia.
authors.forename: Richard
authors.initials: R
authors.lastname: Norman
authors.affiliation: Department of Internal Medicine, Hospital Virgen del Rocío, Sevilla, Spain.
authors.forename: Ovidio
authors.initials: O
authors.lastname: Muñiz
authors.affiliation: Department of Internal Medicine, IMIBIC Hospital Universitario Reina Sofia, Universidad de Cordoba, Cordoba, Spain; CIBER Fisiopatologia de la Obesidad y Nutricion, Instituto de Salud Carlos III, Cordoba, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuentes
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain; Department of Epidemiology, Madrid Health Authority, Madrid, Spain.
authors.forename: Nelva
authors.initials: N
authors.lastname: Mata
authors.affiliation: Department of Internal Medicine, IMIBIC Hospital Universitario Reina Sofia, Universidad de Cordoba, Cordoba, Spain.
authors.forename: José
authors.initials: J
authors.lastname: López-Miranda
authors.affiliation: Department of Cardiology, Hospital Clínico Universitario de Santiago de Compostela, Spain.
authors.forename: José Ramón
authors.initials: JR
authors.lastname: González-Juanatey
authors.affiliation: Department of Internal Medicine, Hospital Abente y Lago, A Coruña, Spain.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Díaz-Díaz
authors.affiliation: Health Services Researcher, Madrid, Spain.
authors.forename: Antonio Javier
authors.initials: AJ
authors.lastname: Blasco
authors.affiliation: Fundación Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
mesh_terms: D000328:Adult; D003362:Cost-Benefit Analysis; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis*; D008297:Male; D008403:Mass Screening / Q000191:economics*
keywords: Cardiovascular disease; Cascade screening program; Cost-effectiveness; Familial hypercholesterolemia