Servicio de Pediatría, Hospital Regional de Antofagasta, Azapa 5935, Chile
Colin Eric Willoughby
Genomic Medicine, Biomedical Sciences Research Institute, Ulster University, Coleraine BT52 1SA, UK
Vito Romano
Eye Unit, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Viale Europa 15, 25123 Brescia, Italy
Michele Callea
Pediatric Dentistry and Special Dental Care Unit, Meyer Children’s Hospital IRCCS, 50139 Florence, Italy
Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or geneticist to display good communication skills and knowledge in a moment of uncertainty and disorientation for the family group, and sometimes in an inappropriate environment or under time constraints [...]