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1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa

BACKGROUND: Predictive 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. METHODS: This is...

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Autores principales: Mandich, Paola, Lamp, Merit, Gotta, Fabio, Gulli, Rossella, Iacometti, Ariela, Marchese, Roberta, Bellone, Emilia, Abbruzzese, Giovanni, Ferrandes, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606876/
https://www.ncbi.nlm.nih.gov/pubmed/28944231
http://dx.doi.org/10.1002/mgg3.238
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author Mandich, Paola
Lamp, Merit
Gotta, Fabio
Gulli, Rossella
Iacometti, Ariela
Marchese, Roberta
Bellone, Emilia
Abbruzzese, Giovanni
Ferrandes, Giovanna
author_facet Mandich, Paola
Lamp, Merit
Gotta, Fabio
Gulli, Rossella
Iacometti, Ariela
Marchese, Roberta
Bellone, Emilia
Abbruzzese, Giovanni
Ferrandes, Giovanna
author_sort Mandich, Paola
collection PubMed
description BACKGROUND: Predictive 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. METHODS: This 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. RESULTS: A 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% (P = 0.011). Likewise, persons over 25 years of age were more likely to take the test than younger applicants (18–25 years): 63.4% versus 48.1% (P = 0.043). In addition, relationship status, having children, and the gender of the affected parent showed different effects on the decision about testing in males and females. No catastrophic reactions were reported during the study period. CONCLUSIONS: We 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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spelling pubmed-56068762017-09-24 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa Mandich, Paola Lamp, Merit Gotta, Fabio Gulli, Rossella Iacometti, Ariela Marchese, Roberta Bellone, Emilia Abbruzzese, Giovanni Ferrandes, Giovanna Mol Genet Genomic Med Original Articles BACKGROUND: Predictive 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. METHODS: This 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. RESULTS: A 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% (P = 0.011). Likewise, persons over 25 years of age were more likely to take the test than younger applicants (18–25 years): 63.4% versus 48.1% (P = 0.043). In addition, relationship status, having children, and the gender of the affected parent showed different effects on the decision about testing in males and females. No catastrophic reactions were reported during the study period. CONCLUSIONS: We 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. John Wiley and Sons Inc. 2017-06-17 /pmc/articles/PMC5606876/ /pubmed/28944231 http://dx.doi.org/10.1002/mgg3.238 Text en © 2016 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Mandich, Paola
Lamp, Merit
Gotta, Fabio
Gulli, Rossella
Iacometti, Ariela
Marchese, Roberta
Bellone, Emilia
Abbruzzese, Giovanni
Ferrandes, Giovanna
1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa
title 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa
title_full 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa
title_fullStr 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa
title_full_unstemmed 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa
title_short 1993–2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa
title_sort 1993–2014: two decades of predictive testing for huntington's disease at the medical genetics unit of the university of genoa
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606876/
https://www.ncbi.nlm.nih.gov/pubmed/28944231
http://dx.doi.org/10.1002/mgg3.238
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