Genetic protocol in primary care for rare diseases: Wolfram syndrome as a prototype

Aten Primaria. 2022 May;54(5):102285. doi: 10.1016/j.aprim.2022.102285. Epub 2022 Mar 16.


Rare 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.

PMID:35307613 | PMC:PMC8931343 | DOI:10.1016/j.aprim.2022.102285