Aggiornamento
La tecnologia genetica: ciň che ogni pediatra dovrebbe sapere
Gene technology: what pAediatricians should know
Milena Mariani1, Paola Cianci1, Anna Cereda2, Silvia Maitz3, Marzia Giagnacovo4, Piergiorgio Modena4, Maria Iascone5, Angelo Selicorni1
1UOC di Pediatria, ASST Lariana, Como; 2UOC di Pediatria, ASST “Papa Giovanni XXIII”, Bergamo; 3Clinica Pediatrica Fondazione MBBM, Monza; 4Laboratorio di Genetica Medica, ASST “Papa Giovanni XXIII”, Bergamo; 5Laboratorio di Genetica Medica, ASST Lariana, Como
Maggio 2021 - pagg. 291 -301 | DOI: 10.53126/MEB40291
Abstract
Availability of genetic tests has remarkably increased in the last few years. The new technologies offer clinicians new diagnostic opportunities that enable to save time and money in the diagnostic path of patients with possible genetic disease. Also from a patient’s perspective the application of the new tests significantly improves what has been called “diagnostic odyssey”. For all these reasons it is absolutely important that paediatricians become aware of what can be offered to their patients as well as of the increased diagnostic potentialities but also of the well-known limits and possible doubtful results of these tests.
Riassunto
La disponibilitŕ dei test genetici č considerevolmente aumentata negli ultimi anni. Le nuove tecnologie offrono ai medici nuove opportunitŕ diagnostiche che possono consentire di risparmiare in termini di tempo e costi nel percorso diagnostici dei pazienti con sospetta patologia genetica. Anche dal punto di vista del paziente l’applicazione dei nuovi test migliora sensibilmente quella che č stata definita “odissea diagnostica”. Per tutti questi motivi č assolutamente importante che I pediatric possano essere consapevoli di cosa sia possibile offrire ai loro pazienti conoscendo le aumentate potenzialitŕ diagnostiche ma anche i ben noti limiti e gli eventuali dubbi risultati di questi test.
Classificazione MeSH
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Corrispondenza: angelo.selicorni61@gmail.com