Cost-effectiveness of genetic studies in inherited heart diseases
AbstractThere 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.
PlumX Metrics provide insights into the ways people interact with individual pieces of research output (articles, conference proceedings, book chapters, and many more) in the online environment. Examples include, when research is mentioned in the news or is tweeted about. Collectively known as PlumX Metrics, these metrics are divided into five categories to help make sense of the huge amounts of data involved and to enable analysis by comparing like with like.
- Abstract views: 5002
- PDF: 1692
Copyright (c) 2013 María Sabater-Molina, Esperanza García-Molina, Isabel Tovar, Francisco Ruiz-Espejo, Juan Ramón Gimeno, Mariano Valdés
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.