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Current Status of Genetic Counselling for Rare Diseases in Spain.

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.

SUBMITTER: Alvaro-Sanchez S

PROVIDER: S-EPMC8700506 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Current Status of Genetic Counselling for Rare Diseases in Spain.

Álvaro-Sánchez Sara S Abreu-Rodríguez Irene I Abulí Anna A Serra-Juhe Clara C Garrido-Navas Maria Del Carmen MDC

Diagnostics (Basel, Switzerland) 20211209 12

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 ...[more]

PMID: 34943558

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