Communication in rare diseases. A literature review

Rare diseases are incurable genetic conditions that have a particularly low occurrence. According to EU health authorities a disease is considered rare when it does not affect more than 5 out of 10 000 persons. Rare disease patients experience significant obstacles in accessing high quality healthcare. This research aims at analyzing the role of communication in rare diseases through a systematic literature review. Research has focused on the information patients extract from the media (new and mass media), and secondly on interpersonal patient-physician communication to analyze the type of relationship established between the two. The results are presented in a narrative synthesis, highlighting: the source of medication information and other information about diseases; the patient-physician interaction and psycho-social support. The literature review showed that only a few studies have fully considered the communication role set in rare disease.