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Cost-effectiveness of genetic studies in inherited heart diseases

María Sabater-Molina, Esperanza García-Molina, Isabel Tovar, Francisco Ruiz-Espejo, Juan Ramón Gimeno, Mariano Valdés
  • María Sabater-Molina
    Servicio de Análisis Clínicos, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain | mariasm79es@hotmail.com
  • Esperanza García-Molina
    Servicio de Análisis Clínicos, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
  • Isabel Tovar
    Servicio de Análisis Clínicos, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
  • Francisco Ruiz-Espejo
    Servicio de Análisis Clínicos, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
  • Juan Ramón Gimeno
    Servicio de Cardiología, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
  • Mariano Valdés
    Departamento de Medicina Interna, Universidad de Murcia, Murcia, Spain

Abstract

There is a need to evidence the cost of genetic testing and know their profitability in order to establish criteria for priorizing access to genetic testing for these diseases. We determinated the cost per positive genotyping in 234 index cases with diagnosis of hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), long-QT syndrome (LQTS), or Brugada syndrome (BS). The genetic tests of the most prevalent genes and the estimation of the costs of periodical screening in wildtype relatives (WT) were calculated. A total of 738 individuals (517 HCM, 76 ARVC, 71 LQTS and 74 BS) from 234 probands were genotyped. The savings made by not having to perform the clinical testing of WT relatives exceeded the cost of genotyping for HCM families € +220,710, ARVC families € +9405 and LQTS families € +8362. The balance in BS was negative (€ –25,112). Our data suggests that individuals with conclusive clinical diagnostic of HCM should have a priority to access genetic testing. A positive overall benefit was also demonstrated in ARVC and LQTS.

Keywords

cost-effectiveness, genetic study, cardiomyopathies, channelopathies.

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Submitted: 2013-01-30 11:13:07
Published: 2013-05-23 10:12:01
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Copyright (c) 2013 María Sabater-Molina, Esperanza García-Molina, Isabel Tovar, Francisco Ruiz-Espejo, Juan Ramón Gimeno, Mariano Valdés

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