Current Status of Genetic Counselling for Rare Diseases in Spain.

Maria del Carmen Garrido-Navas,Clara Serra-Juhe,Sara Álvaro-Sánchez,Anna Abulí,Irene Abreu-Rodríguez

doi: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.

Highlights

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The main goal of this paper was to provide a comprehensive overview of the current situation of Genetic Counselling in Spain, focussed on Rare Diseases (RD)
We started by describing the importance of providing Genetic Counselling to patients with RD

Summary

The Role of Genetic Counselling for Rare Diseases

Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. These disease-causing genetic changes might be passed from one generation to the for rare disorders they might occur de novo, with the patient being the first affected person in the family [15,16,17] Inheritance of these variants increases the risk of passing the disease to the generation, and some relatives who might be carriers will need support, help and guidance to manage and plan a future pregnancy trying to reduce risks of having an affected child [18,19]. The increasing use of genetic variants identification (either in the tumour itself or at the circulating level) for targeted treatments in cancer [2,43] supports the implementation of Genetic Counselling in this area

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