Challenges in Communicating a Genetic Diagnosis

Author:

Cammarata-Scalisi Francisco1ORCID,Willoughby Colin Eric2ORCID,Romano Vito3ORCID,Callea Michele4

Affiliation:

1. Servicio de Pediatría, Hospital Regional de Antofagasta, Azapa 5935, Chile

2. Genomic Medicine, Biomedical Sciences Research Institute, Ulster University, Coleraine BT52 1SA, UK

3. Eye Unit, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Viale Europa 15, 25123 Brescia, Italy

4. Pediatric Dentistry and Special Dental Care Unit, Meyer Children’s Hospital IRCCS, 50139 Florence, Italy

Abstract

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 [...]

Publisher

MDPI AG

Subject

Pediatrics, Perinatology and Child Health

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