Cost-effectiveness of genetic studies in inherited heart diseases

  • María Sabater-Molina | mariasm79es@hotmail.com Servicio de Análisis Clínicos, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
  • 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.

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Published
2013-05-23
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Original Articles
Supporting Agencies
This study has been funded partly by a national grant of Sociedad Española de Cardiología and by the Cardiovascular Research Network (RECAVA) from the Health Institute Carlos III (C03/01, RD06/0014/0017, RD06/0014/0018).
Keywords:
cost-effectiveness, genetic study, cardiomyopathies, channelopathies.
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How to Cite
Sabater-Molina, M., García-Molina, E., Tovar, I., Ruiz-Espejo, F., Gimeno, J., & Valdés, M. (2013). Cost-effectiveness of genetic studies in inherited heart diseases. Cardiogenetics, 3(1), e5. https://doi.org/10.4081/cardiogenetics.2013.e5