ArticleJournal of genetic counseling2012
Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.
Article in Journal of genetic counseling, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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.
The trial behind it
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
16 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Current Overview of Spinocerebellar Ataxia Type 7 in Mexican Population: Challenges in Specialized Care for a Rare Disease.International journal of molecular sciences · 2024Review
- Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease.European journal of human genetics : EJHG · 2019Article
- Population medical genetics: translating science to the community.Genetics and molecular biology · 2019Article
- Public Willingness to Undergo Presymptomatic Genetic Testing for Alzheimer's Disease.Neurology research international · 2019Article
- 1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.Molecular genetics & genomic medicine · 2017Article
- Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.Cerebellum (London, England) · 2016Article
- 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
- Neurogenetics in Peru: clinical, scientific and ethical perspectives.Journal of community genetics · 2015Article
- SCA2 predictive testing in Cuba: challenging concepts and protocol evolution.Journal of community genetics · 2015Article
- Predictive testing for inherited prion disease: report of 22 years experience.European journal of human genetics : EJHG · 2014Article
- Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.Genetics and molecular biology · 2014Article
- Bioethical issues of preventing hereditary diseases with late onset in the Sakha Republic (Yakutia).International journal of circumpolar health · 2014Article
- Couples at risk for spinocerebellar ataxia type 2: the Cuban prenatal diagnosis experience.Journal of community genetics · 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
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Diagnostic tests are available to detect several mutations related to adult-onset, autosomal dominant, neurodegenerative diseases. We aimed to describe our experience in a presymptomatic testing program run by the Brazilian Public Health System from 1999 to 2009. A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease (11.9%), familial amyloidotic neuropathy (4.3%), SCA1, SCA2, SCA6, or SCA7. Most were women (70%), married (54%), and had children prior to presymptomatic testing (67%). Their mean age at entrance was 34 (SD = 11 years). Educational level was above the average Brazilian standard. After receipt of genetic counseling, 100 individuals (54%) decided to undergo testing; of these, 51 were carriers. Since no individual returned for post-test psychological evaluation, we conducted a subsequent survey, unrelated to test disclosures. We contacted 57 individuals of whom 31 agreed to participate (24 had been tested, 7 had not). Several ascertainment concerns relating to these numerous losses prevented us from generalizing our results from this second survey. We concluded that: decision-making regarding presymptomatic testing seems to be genuinely autonomous, since after genetic counseling half the individuals who asked for presymptomatic testing decided in favor and half decided against it; general characteristics of Brazilians who sought presymptomatic testing were similar to many European samples studied previously; and individuals at risk for SCA3 may be at greater risk of depression. Although no clear-cut reason emerged for rejection of follow-up psychological sessions after presymptomatic testing, this finding suggests adjustments to our presymptomatic testing program are necessary.
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Registered trials
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