• Atencion primaria · May 2022

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

    • Gema Esteban-Bueno, Lucas Ramón Díaz-Anadón, Antonio Rodríguez González, Miguel Navarro Cabrero, and Aída María Berenguel Hernández.
    • Medicina familiar y comunitaria, Unidad de Gestión clínica Almería Periferia, Distrito Sanitario Almería, Servicio Andaluz de Salud, Asociación Española para la Investigación y Ayuda al Síndrome de Wolfram, Miembro del Grupo de Trabajo SEMFYC sobre Genética Clínica y Enfermedades Raras, SAMFYC Genética Clínica y Enfermedades Raras, Almería, España. Electronic address: gema.esteban.bueno@gmail.com.
    • Aten Primaria. 2022 May 1; 54 (5): 102285.

    AbstractRare 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.Copyright © 2022 The Authors. Publicado por Elsevier España, S.L.U. All rights reserved.

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