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Войти в исследования Giornale italiano di cardiologia (2006) · 2026
[Cardiogenetics in Piacenza: integrated care and telemedicine for precision medicine].
Аннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Di Spigno Francesco, Gualandi Francesca, Arata Alessandro, Foti Miryam Rosa Stella, Tedeschi Andrea, Breviario Federico, Gerra Luigi, Matrone Benedetta Annamaria, Novara Paola, Aschieri Daniela
Аннотация
BACKGROUND: Cardiogenetics aims to identify the genetic causes of inherited cardiac diseases, with significant implications for early diagnosis, clinical management, and prevention of sudden cardiac death in both patients and their relatives. In Italy, however, access to structured cardiogenetic services remains uneven and is often limited to tertiary care centers, partly due to economic sustainability constraints.
METHODS: We developed a second-level outpatient model that integrates telemedicine to facilitate access to genetic testing. The pathway includes pre-test genetic counseling performed by the cardiologist based on clinical and instrumental phenotype assessment, molecular analysis through blood sample collection and referral to the Medical Genetics Unit of Ferrara, and post-test counseling conducted as a teleconsultation, involving remote participation of a geneticist via a dedicated telemedicine platform (c4C Dedalus). In case of a positive result, the patient undergoes an in-person cardiology consultation in Piacenza, while negative or uncertain results are managed through further phenotypic or familial investigations as needed.
RESULTS: In the first year of activity, 78 probands and 20 first-degree relatives underwent genetic testing. The positivity rates, including relevant variants of uncertain significance, were 44% for hypertrophic cardiomyopathy, 75% for non-dilated left ventricular cardiomyopathy, 20% for dilated cardiomyopathy, 100% for arrhythmogenic right ventricular cardiomyopathy, 100% for long QT syndrome, and 50% for Brugada syndrome.
CONCLUSIONS: This model demonstrates that telemedicine can be an effective and sustainable tool to extend access to specialized genetic counseling in peripheral settings, improving equity of care and optimizing the use of resources for the management of inherited cardiomyopathies.
METHODS: We developed a second-level outpatient model that integrates telemedicine to facilitate access to genetic testing. The pathway includes pre-test genetic counseling performed by the cardiologist based on clinical and instrumental phenotype assessment, molecular analysis through blood sample collection and referral to the Medical Genetics Unit of Ferrara, and post-test counseling conducted as a teleconsultation, involving remote participation of a geneticist via a dedicated telemedicine platform (c4C Dedalus). In case of a positive result, the patient undergoes an in-person cardiology consultation in Piacenza, while negative or uncertain results are managed through further phenotypic or familial investigations as needed.
RESULTS: In the first year of activity, 78 probands and 20 first-degree relatives underwent genetic testing. The positivity rates, including relevant variants of uncertain significance, were 44% for hypertrophic cardiomyopathy, 75% for non-dilated left ventricular cardiomyopathy, 20% for dilated cardiomyopathy, 100% for arrhythmogenic right ventricular cardiomyopathy, 100% for long QT syndrome, and 50% for Brugada syndrome.
CONCLUSIONS: This model demonstrates that telemedicine can be an effective and sustainable tool to extend access to specialized genetic counseling in peripheral settings, improving equity of care and optimizing the use of resources for the management of inherited cardiomyopathies.