ArticleJournal of genetic counseling2013
What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.
Article in Journal of genetic counseling, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- Community-Driven Research Priorities for Genetic Counseling: Shaping the Future of Genetic Counseling Research by Centering Multicultural Perspectives.Journal of genetic counseling · 2026Article
- Genetic services in Pakistan: a review highlighting limitations and opportunities for improvement.Journal of community genetics · 2026Article
- In their own words: a qualitative exploration of patients' perspectives of genetic counseling sessions across clinical disciplines.Journal of community genetics · 2026Article
- Predictive genetic testing in amyotrophic lateral sclerosis (ALS): Experiences of decision-making and engagement with UK genetic counseling services.Journal of genetic counseling · 2026Article
- Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.Neurology. Clinical practice · 2023Article
- The Contribution of the Reciprocal-Engagement Model as a Theoretical Framework of a Portuguese Scale for Quality Assessment of Genetic Counseling.Journal of genetic counseling · 2018Article
- Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe.European journal of human genetics : EJHG · 2017Article
- Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy.Muscle & nerve · 2016Article
- Genetic counsellors in Sweden: their role and added value in the clinical setting.European journal of human genetics : EJHG · 2016Article
- Recommendations for presymptomatic genetic testing and management of individuals at risk for hereditary transthyretin amyloidosis.Current opinion in neurology · 2016Review
- Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.European journal of human genetics : EJHG · 2015Article
- Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.Journal of genetic counseling · 2015Article
- Genetic Counseling in Portugal: Education, Practice and a Developing Profession.Journal of genetic counseling · 2015Article
- Analysis of pre-test interviews in a cohort of Brazilian patients with movement disorders.Journal of community genetics · 2015Article
- SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.Journal of community genetics · 2015Article
- Computational neurobiology is a useful tool in translational neurology: the example of ataxia.Frontiers in neuroscience · 2015Article
- Amyotrophic lateral sclerosis in a patient with a family history of huntington disease: genetic counseling challenges.Journal of genetic counseling · 2014Article
- Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.Genetics and molecular biology · 2014Article
- From constraints to opportunities? Provision of psychosocial support in portuguese oncogenetic counseling services.Journal of genetic counseling · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.
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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.