Current status of genetic counselling for rare diseases in spain
Álvaro-Sánchez, Sara (CONGEN. Genetic Counselling Services)
Abreu-Rodríguez, Irene (Institut Hospital del Mar d'Investigacions Mèdiques)
Abulí, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca)
Serra-Juhe, Clara (Institut d'Investigació Biomèdica Sant Pau)
Garrido-Navas, Mª. Carmen (Universidad de Granada. Departamento de Genética)
Universitat Autònoma de Barcelona

Date:	2021
Abstract:	Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Subject:	Genetic counselling ; Rare diseases ; Professional recognition
Published in:	Diagnostics, Vol. 11 Núm. 12 (december 2021) , p. 2320, ISSN 2075-4418

DOI: 10.3390/diagnostics11122320
PMID: 34943558

12 p, 1.1 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Health sciences and biosciences > Institut de Recerca Sant Pau
Articles > Research articles
Articles > Published articles