title: Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.
abstract: We present a prospective study of counselees seeking predictive testing for Huntington's disease at the Huntington Center North Rhine-Westphalia (Bochum, Germany) between 2010 and 2012. The aim was to observe the decision-making process of at-risk individuals and explore their experiences following the decision as well as the impacts of positive and negative mutation results. Data were collected using two standardized questionnaires as well as via a semi-standardized telephone interview one year after the initial counseling session. Seventy-two  individuals participated in at least one of the three phases of the survey, including 31 individuals in the telephone interview. Sociodemographic data were in accordance with previous reports. The process of predictive testing was generally perceived in a positive manner, with almost all interviewees reporting a balanced emotional state one year after initial counseling, regardless of the decision for or against the test. The most important reasons named in favor of or against testing were assembled as well as different aspects regarding the satisfaction with the reached decision. In line with and expanding previous observations on gender-related differences in decision-making, our results suggest that gender-related aspects should be more strongly taken into account in genetic counseling during the predictive testing and counseling processes.
authors.affiliation: Department of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany. ayseguel.ibisler@ruhr-uni-bochum.de.|Center for Rare Diseases Ruhr (CeSER), Bochum, Germany. ayseguel.ibisler@ruhr-uni-bochum.de.
authors.forename: Aysegül
authors.identifier: http://orcid.org/0000-0002-9289-6021
authors.initials: A
authors.lastname: Ibisler
authors.affiliation: Department of Biopsychology, Institute of Cognitive Neuroscience, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Ocklenburg
authors.affiliation: Department of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.|Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Stemmler
authors.affiliation: Department of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.|Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
authors.forename: Larissa
authors.initials: L
authors.lastname: Arning
authors.affiliation: Department of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.|Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.|Faculty of Health, University Witten/Herdecke, Witten, Germany.
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.affiliation: Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.|Department of Neurology, St. Josef Hospital, Huntington Center NRW, Ruhr-University Bochum, Bochum, Germany.
authors.forename: Carsten
authors.initials: C
authors.lastname: Saft
authors.affiliation: Department of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.|Center for Rare Diseases Ruhr (CeSER), Bochum, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Hoffjan
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D003657:Decision Making; D005260:Female; D005817:Genetic Counseling / Q000458:organization & administration*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics*; D008297:Male; D011446:Prospective Studies; D011795:Surveys and Questionnaires
keywords: Decision-making; Gender differences; Genetic counseling; Huntington’s disease; Motivation; Predictive testing