title: A Systematic Review on the Cost-Effectiveness of Genetic and Electrocardiogram Testing for Long QT Syndrome in Infants and Young Adults.
abstract: BACKGROUND
  Recent improvements in the identification of the genetic basis of long QT syndrome (LQTS) have led to significant changes in the diagnosis and management of this life-threatening condition. Genetic and electrocardiogram (ECG) tests are the most relevant examples among testing strategies for LQTS, yet their cost-effectiveness remains controversial.
  
  
  OBJECTIVE
  The aim of this work was to review the available evidence on the cost-effectiveness of genetic and ECG testing strategies for the diagnosis of LQTS.
  
  
  METHODS
  We performed a systematic review of the literature on the cost-effectiveness of genetic and ECG screening strategies for the early detection of LQTS using MEDLINE, EMBASE, and CRD databases between 2000 and 2013. A weighted version of Drummond checklist was instrumental in further assessing the quality of the included studies.
  
  
  RESULTS
  We identified four eligible articles. Among them, genetic testing in the early detection of LQTS was cost-effective compared with no testing in symptomatic cases and not cost-effective when compared with watchful waiting in asymptomatic first-degree relatives of patients with established LQTS although it reached cost-effectiveness in higher risk subgroups, whereas ECG testing in neonates was highly cost-effective when compared with any screening strategy.
  
  
  CONCLUSIONS
  LQTS profiling and patients' stratification have the potential to improve the disease management. Because of the limited current knowledge in this field, the present review recommends to perform further cost-effectiveness evaluations of the genetic and ECG screening alternatives, especially within European health care systems, which are still not available in the literature on genetic testing.
authors: Bocconi University, Milan, Italy. Electronic address: fernando.gonzalez@master.sdabocconi.it.
authors: Fernando Matias
authors: FM
authors: Gonzalez
authors: Section of Hygiene, Institute of Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
authors: Maria Assunta
authors: MA
authors: Veneziano
authors: Section of Hygiene, Institute of Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
authors: Anna
authors: A
authors: Puggina
authors: Section of Hygiene, Institute of Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
authors: Stefania
authors: S
authors: Boccia
mesh_terms: D000367:Age Factors; D057186:Comparative Effectiveness Research; D003362:Cost-Benefit Analysis; D004562:Electrocardiography / Q000191:economics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics*; D017048:Health Care Costs; D006339:Heart Rate / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000191:economics* / Q000235:genetics / Q000503:physiopathology; D018803:Models, Economic; D010641:Phenotype; D011237:Predictive Value of Tests; D055815:Young Adult
keywords: ECG; cost-effectiveness; economic evaluation; genetic testing; long QT syndrome