ReviewDiagnostics (Basel, Switzerland)2021
Current Status of Genetic Counselling for Rare Diseases in Spain.
Review in Diagnostics (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Implementing genetic counselling supervision in southwestern Europe: the MAG-SUDOE programme.Journal of community genetics · 2026Article
- A text mining and ontology-based approach using phenotypes to obtain relevant literature for rare diseases.iScience · 2026Article
- Experience of the Evolving Roles of Nurses in Genetic Counselling in Spain: An Interpretive Description Study.International nursing review · 2025Article
- Exploring Current Health Policies on Rare Diseases in Greece: A Narrative Review.International journal of pediatrics · 2025Review
- Quality of life and unmet needs in patients with fabry disease: a qualitative study.Orphanet journal of rare diseases · 2024Review
- Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study.PLOS global public health · 2023Article
- Genetic Testing for Rare Diseases.Diagnostics (Basel, Switzerland) · 2022Article
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.