Current Status of Genetic Counselling for Rare Diseases in Spain
Metadata
Show full item recordEditorial
MDPI
Materia
Genetic counselling Rare diseases Professional recognition
Date
2021-12-09Referencia bibliográfica
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]
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.