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Prospective Evaluation of Predictive DNA Testing for Huntington’s Disease in a Large German Center

  • Original Research
  • Published:
Journal of Genetic Counseling

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.

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Acknowledgements

We thank the participants for taking part in our survey and the data protection office of the Ruhr-University Bochum for anonymization. In addition, special thanks to Mrs. Bork (psychiatrist in the LWL clinics Münster, Germany) for performing the telephone interviews and the genetic counselor and psychotherapist colleagues for intense discussions. This study represents part of the doctoral thesis of AI.

Author Carsten Saft was supported financially by FoRUM grant K040-09.

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Authors and Affiliations

  1. Department of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany

    Aysegül Ibisler, Susanne Stemmler, Larissa Arning, Jörg T. Epplen & Sabine Hoffjan

  2. Center for Rare Diseases Ruhr (CeSER), Bochum, Germany

    Aysegül Ibisler, Susanne Stemmler, Larissa Arning, Jörg T. Epplen, Carsten Saft & Sabine Hoffjan

  3. Department of Biopsychology, Institute of Cognitive Neuroscience, Ruhr-University Bochum, Bochum, Germany

    Sebastian Ocklenburg

  4. Faculty of Health, University Witten/Herdecke, Witten, Germany

    Jörg T. Epplen

  5. Department of Neurology, St. Josef Hospital, Huntington Center NRW, Ruhr-University Bochum, Bochum, Germany

    Carsten Saft

Authors
  1. Aysegül Ibisler
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  2. Sebastian Ocklenburg
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  4. Larissa Arning
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  5. Jörg T. Epplen
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  6. Carsten Saft
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  7. Sabine Hoffjan
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Corresponding author

Correspondence to Aysegül Ibisler.

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Funding

Author Carsten Saft was supported financially by FoRUM grant K040–09.

Conflict of Interest

Authors Aysegül Ibisler, Sebastian Ocklenburg, Susanne Stemmler, Larissa Arning, Jörg T. Epplen, Carsten Saft, and Sabine Hoffjan declare that they have no conflict of interest.

Conflict of Interest outside the Submitted Work

Author Carsten Saft reports grants from Teva Endowed Professorship, grants from “Cure Huntington’s Disease Initiative” (CHDI), grants from Biogen, personal fees from Temmler Pharma GmbH & Co.KG, personal fees from Desitin Arzneimittel GmbH, outside the submitted work; C. Saft received institutional compensation and/or travel or accommodation payments in the context of the Registry-Study of the Euro-HD-Network, the ENROLL-HD Study (CHDI), in the context of the MitoNet-study, the ACR16-Study (Neurosearch), the AFQ-Study (Novartis), the Selisistat-Studies (Siena Biotech), the PRIDE-HD-Study and LEGATO-HD Study (both TEVA), the Amaryllis-Study (Pfizer) as well as the IONIS Antisense trial (IONIS-HTTRx).

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study. The Ethics Committee of the Ruhr-University Bochum (Germany) approved the study protocol.

Animal Studies

No animal studies were carried out by the authors for this article.

Additional information

Carsten Saft and Sabine Hoffjan contributed equally to this work.

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Ibisler, A., Ocklenburg, S., Stemmler, S. et al. Prospective Evaluation of Predictive DNA Testing for Huntington’s Disease in a Large German Center. J Genet Counsel 26, 1029–1040 (2017). https://doi.org/10.1007/s10897-017-0085-8

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  • DOI: https://doi.org/10.1007/s10897-017-0085-8

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