Cost-Effectiveness of Genotyping in Inherited Arrhythmia Syndromes

Abstract

Over the last decade, the identification of the diverse genetic basis of most important inherited arrhythmia syndromes has remarkably changed our attitude toward these life-threatening diseases. Just over 10 years ago, long-QT syndrome (LQTS) was considered one disease entity, Brugada syndrome (BrS) had just been described, and short-QT syndrome was not yet recognized. In addition to improved understanding of the pathophysiological basis of these disorders, these advances have added genetic testing to our diagnostic armentarium, providing new opportunities for patient management. Early (presymptomatic) identification and treatment of patients at risk of developing fatal arrhythmias is now a reality. More importantly, in particular in LQTS, gene-specific aspects of disease management have evolved, making gene testing highly desirable.1 Article see p 6 One of the difficult aspects of genetic testing, however, are the financial costs, which are considerable. Reimbursement policies dealing with this issue are lacking in almost every country in the (Western) world, a problem that has certainly contributed to prohibiting widespread dissemination. Priori and coworkers2 are applauded for tackling this issue and providing insight into the genotyping cost of the most important primary arrhythmia syndromes. Not unexpectedly, these costs are indeed considerable. They vary between $8418 (±Є6734) for LQTS with high clinical suspicion to $71430 (±Є57144) for idiopathic ventricular fibrillation survivors. In assessing these costs, the most important determinants were the prices of the commercial genotyping company, Familion, and the subdivision of patients on the basis of their clinical characteristics into groups for which affection by the disorder was considered conclusive versus possible.2 Positive genotyping was defined as “a mutation with high probability causative of the inherited cardiac ionchannelopathy.”2 All of these parameters need to be considered carefully. First, it should be noted that getting to a genetic diagnosis is not …