Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes
Genetic analysis identified the cause of the disease in inherited arrhythmogenic syndromes. A clinically actionable genetic diagnosis requires an accurate interpretation following the current guidelines. Practically half of the genetic diagnoses remain inconclusive due to the identification of variants of uncertain significance. An update can help shed light on uncertain results. No specific time frame has been set for updating an ambiguous diagnosis. We carried out an analysis of the available reclassification/reinterpretation data concerning genetic diagnosis in inherited arrhythmogenic syndromes. We aim to determine an appropriate interval for updating a conclusive classification. Genetic diagnoses achieved without following current guidelines should be updated immediately. An ambiguous result obtained following the current guidelines should be updated no more than 5 years after the first analysis. There are still questions to be resolved regarding the legal responsibility or who should assume the economic cost of updating a genetic diagnosis.
Authors
- Fredy Chipa (ORCID: https://orcid.org/0000-0001-9914-946X)
- José Cruzalegui (ORCID: https://orcid.org/0000-0003-2382-0979)
- Georgia Sarquella‐Brugada (ORCID: https://orcid.org/0000-0002-6857-8904)
- Antonio Oliva (ORCID: https://orcid.org/0000-0001-7112-9096)
- Estefanía Martinez-Barrios (ORCID: https://orcid.org/0000-0002-5856-1906)
- Norma Balderrábano
- Rocío Toro (ORCID: https://orcid.org/0000-0003-3136-1776)
- Patricia Cerralbo
- Óscar Campuzano (ORCID: https://orcid.org/0000-0001-5298-5276)
- Andrea Greco (ORCID: https://orcid.org/0000-0003-2863-3195)
- Irene Zschaeck
- Simone Grassi (ORCID: https://orcid.org/0000-0002-2420-6658)
- Carles Díez‐López (ORCID: https://orcid.org/0000-0002-3734-4777)
- Sergi César (ORCID: https://orcid.org/0000-0002-2798-1756)
- Núria Díez-Escuté
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Hospital Sant Joan de Déu Barcelona (ES)
- Universitat de Girona (ES)
- Bellvitge University Hospital (ES)
- Universidad de Cádiz (ES)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Centro de Investigación en Red en Enfermedades Cardiovasculares (ES)
- Hospital Infantil de México Federico Gómez (MX)
- Centro de Investigación Biomédica en Red (ES)
- Sant Joan de Déu Research Foundation (ES)
- ERN GUARD-Heart (NL)
- Institut de Recerca Sant Joan de Déu
- University of Florence (IT)
Publication Details
- Journal
- iScience
- Published
- 2025-03-28
- DOI
- https://doi.org/10.1016/j.isci.2025.112300
- Citations
- 3
- Primary Topic
- Cardiovascular Effects of Exercise
- Type
- article
- Field-Weighted Citation Impact
- 4.16