Molecular genetics & genomic medicine · 2017
1993-2014: two decades of predictive testing for Huntington's disease at the Medical Genetics Unit of the University of Genoa.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Ошибки и ограничения
История · было → стало
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Mandich Paola, Lamp Merit, Gotta Fabio, Gulli Rossella, Iacometti Ariela, Marchese Roberta, Bellone Emilia, Abbruzzese Giovanni, Ferrandes Giovanna
Аннотация
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.
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.