Genetic Testing for Patients with Cardiomyopathies: The INDACO Study—Towards a Cardiogenetic Clinic

Autor: Matteo Bianco, Noemi Giordano, Valentina Gazzola, Carloalberto Biolè, Giulia Nangeroni, Maurizio Lazzero, Giulia Margherita Brach del Prever, Fiorenza Mioli, Giulia Gobello, Amir Hassan Mousavi, Monica Guidante, Silvia Deaglio, Daniela Francesca Giachino, Alessandra Chinaglia
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Cardiogenetics, Vol 14, Iss 3, Pp 122-131 (2024)
Druh dokumentu: article
ISSN: 2035-8148
2035-8253
DOI: 10.3390/cardiogenetics14030010
Popis: Cardiomyopathies have evolved from being considered rare and idiopathic to being increasingly linked to genetic factors. This shift was enabled by advancements in understanding genetic variants and the widespread use of next generation sequencing (NGS). Current guidelines emphasize the importance of evidence-based gene panels that can offer “clinically actionable results”, which provide diagnostic and prognostic insights. They also advise against indiscriminate family screening after finding variants of uncertain significance (VUS) and recommend collaboration among multidisciplinary teams for an accurate variant pathogenicity assessment. This article presents an innovative “cardiogenetic clinic” approach involving cardiologists and medical geneticists to provide genetic testing and family screening. This study attempts to improve the diagnostic process for suspected genetic cardiomyopathies; this includes direct patient recruitment during cardiology appointments, NGS analysis, and combined consultations with cardiologists and geneticists to assess the results and screen the families. The study cohort of 170 patients underwent genetic testing, which identified 78 gene variants. Positive results (C4 or C5 variants) occurred in 20 (19.8%) cases, with rates varying by cardiomyopathy phenotype, while 57 (73.1%) of the variants found were classified as C3-VUS, causing a significant management issue. This model shortened the time to results, increased patient adherence, and improved patients’ diagnoses. Family screening was pondered depending on the relevance of the detected variants, showing this method’s potential to impact patient management.
Databáze: Directory of Open Access Journals
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