ArticleMolecular genetics & genomic medicine2017
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.Journal of neurology · 2022Pooled it
- Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.Human genetics · 2025Article
- Hereditary transthyretin amyloidosis overview.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.Orphanet journal of rare diseases · 2020Article
- Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future.Cold Spring Harbor perspectives in medicine · 2020Review
- Predictive testing for Huntington disease over 24 years: Evolution of the profile of the participants and analysis of symptoms.Molecular genetics & genomic medicine · 2019Article
- Investigating the role of genetic counseling in neuromuscular disease considering life events.Journal of human genetics · 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
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPredictive testing for Huntington's disease has been available at the Medical Genetics Unit of the University of Genoa from 1987. In 1989, an integrated counseling protocol (geneticist, psychologist, and neurologist) was developed following International Guidelines.
methodsThis is a retrospective analysis of the clinical charts and motivation questionnaires of persons seeking predictive testing through direct DNA analysis from 1993 until 2014, with the aim to evaluate their individual characteristics, motivations, and the outcomes of the counseling protocol.
resultsA total of 299 persons (164 women, 135 men) applied for predictive testing. Most applicants' features and motivations were similar to those previously described, but surprisingly the percentage of completed protocols was higher among men, 68.5% versus 53.5% (
conclusionsWe observed that factors influencing the decision-making process might differ between males and females, and that predictive testing appears a safe procedure if framed within an integrated counseling protocol.
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