Esteban-Bueno, GemaDíaz-Anadón, Lucas RamónRodríguez González, AntonioNavarro Cabrero, MiguelBerenguel Hernández, Aída María2023-05-032023-05-032022-03-16http://hdl.handle.net/10668/21974Rare diseases, despite their individual low frequency, affect 7% of the population all combined. Consequently, every primary care practitioner (PCP) will have several of these patients under his care. 80% of rare diseases are genetically determined, which makes genetic counseling fundamental in these cases. The follow-up of patients with Wolfram syndrome (WS) can be used to design a protocol to support these patients, with the participation of researchers and healthcare professionals specialized in WS, the patients themselves and their familial environment. This protocol can be suitable for the diagnosis and management of other diseases as well. The main steps of every genetic clinical procedure are developed in this article, emphasizing the role of PCP in supporting patients and their families and in transmitting genetic information in a comprehensible manner.esAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Atención PrimariaConsejo genéticoDIDMOADEnfermedades rarasGenetic counselingGeneticsGenéticaPrimary CareRare diseasesSíndrome de WolframWolfram syndromeHumansMembrane ProteinsPrimary Health CareRare DiseasesWolfram Syndromeresearch article35307613open access10.1016/j.aprim.2022.1022851578-1275PMC8931343https://doi.org/10.1016/j.aprim.2022.102285https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8931343/pdf