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Cardiogenetics
Volume 3
Issue 1
10.4081/cardiogenetics.2013.e5
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

Cost-Effectiveness of Genetic Studies in Inherited Heart Diseases

by
María Sabater-Molina
1,*,
Esperanza García-Molina
1,
Isabel Tovar
1,
Francisco Ruiz-Espejo
1,
Juan Ramón Gimeno
2 and
Mariano Valdés
3
1
Servicio de Análisis Clínicos, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
2
Servicio de Cardiología, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
3
Departamento de Medicina Interna, Universidad de Murcia, Murcia, Spain
*
Author to whom correspondence should be addressed.
Cardiogenetics 2013, 3(1), e5; https://doi.org/10.4081/cardiogenetics.2013.e5
Submission received: 30 January 2013 / Revised: 2 April 2013 / Accepted: 14 April 2013 / Published: 23 May 2013

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 cost-effectiveness; genetic study; cardiomyopathies; channelopathies

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MDPI and ACS Style

Sabater-Molina, M.; García-Molina, E.; Tovar, I.; Ruiz-Espejo, F.; Gimeno, J.R.; Valdés, M. Cost-Effectiveness of Genetic Studies in Inherited Heart Diseases. Cardiogenetics 2013, 3, e5. https://doi.org/10.4081/cardiogenetics.2013.e5

AMA Style

Sabater-Molina M, García-Molina E, Tovar I, Ruiz-Espejo F, Gimeno JR, Valdés M. Cost-Effectiveness of Genetic Studies in Inherited Heart Diseases. Cardiogenetics. 2013; 3(1):e5. https://doi.org/10.4081/cardiogenetics.2013.e5

Chicago/Turabian Style

Sabater-Molina, María, Esperanza García-Molina, Isabel Tovar, Francisco Ruiz-Espejo, Juan Ramón Gimeno, and Mariano Valdés. 2013. "Cost-Effectiveness of Genetic Studies in Inherited Heart Diseases" Cardiogenetics 3, no. 1: e5. https://doi.org/10.4081/cardiogenetics.2013.e5

APA Style

Sabater-Molina, M., García-Molina, E., Tovar, I., Ruiz-Espejo, F., Gimeno, J. R., & Valdés, M. (2013). Cost-Effectiveness of Genetic Studies in Inherited Heart Diseases. Cardiogenetics, 3(1), e5. https://doi.org/10.4081/cardiogenetics.2013.e5

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