Current status of genetic counselling for rare diseases in Spain

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• dc.contributor.author Álvaro-Sánchez, Sara
• dc.contributor.author Abreu-Rodríguez, Irene
• dc.contributor.author Abulí, Anna
• dc.contributor.author Serra Juhé, Clara, 1984-
• dc.contributor.author Garrido-Navas, Maria del Carmen
• dc.date.accessioned 2022-09-02T06:30:55Z
• dc.date.available 2022-09-02T06:30:55Z
• dc.date.issued 2021
• dc.description.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.
• dc.format.mimetype application/pdf
• dc.identifier.citation Álvaro-Sánchez S, Abreu-Rodríguez I, Abulí A, Serra-Juhe C, Garrido-Navas MDC. Current status of genetic counselling for rare diseases in Spain. Diagnostics (Basel). 2021 Dec 9;11(12):2320. DOI: 10.3390/diagnostics11122320
• dc.identifier.doi http://dx.doi.org/10.3390/diagnostics11122320
• dc.identifier.issn 2075-4418
• dc.identifier.uri http://hdl.handle.net/10230/53979
• dc.language.iso eng
• dc.publisher MDPI
• dc.relation.ispartof Diagnostics (Basel). 2021 Dec 9;11(12):2320
• dc.rights © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri https://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Genetic counselling
• dc.subject.keyword Professional recognition
• dc.subject.keyword Rare diseases
• dc.title Current status of genetic counselling for rare diseases in Spain
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion