Current Status of Genetic Counselling for Rare Diseases in Spain Álvaro Sánchez, Sara Garrido Navas, María del Carmen Genetic counselling Rare diseases Professional recognition 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. 2022-01-31T07:44:16Z 2022-01-31T07:44:16Z 2021-12-09 info:eu-repo/semantics/article Álvaro-Sánchez, S... [et al.]. Current Status of Genetic Counselling for Rare Diseases in Spain. Diagnostics 2021, 11, 2320. [https://doi.org/10.3390/diagnostics11122320] http://hdl.handle.net/10481/72539 10.3390/diagnostics11122320 eng http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess Atribución 3.0 España MDPI