Abstract
Predictive testing for Huntington disease (HD) has been available in the United States (US) since 1987, and the Indiana University Predictive Testing Program has been providing this testing since 1990. To date there has been no published description of those who present for such testing in the US. Here we describe demographics of 141 individuals and reproductive decision making of a subset of 16 of those individuals who underwent predictive HD testing between 1990 and 2010 at one site in the US. This study is a retrospective chart review of the “Personal History Questionnaire” participants completed prior to testing. As seen in other studies, most participants were female (64.5 %), in their mid-30s (mean = 34), and had at least one child prior to testing (54 %). Multiple demographic datum points are described, and the reproductive decision making of these at-risk individuals was analyzed using Fisher’s Exact Tests. Of those women who had children before learning of their risk to inherit HD, those who attended church more frequently, had three or more children total, or whose mother was affected with HD were more likely to be comfortable with their choice to have children. We conclude that these demographic factors influence the reproductive decision-making of individuals at risk for HD. Psychologists, clinical geneticists, and genetic counselors may be able to use this information to help counsel at-risk patients regarding current or past reproductive decision making.
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Alonso, M. E., Ochoa, A., Sosa, A. L., Rodriguez, Y., Chavez, M., Boll, C., et al. (2009). Presymptomatic diagnosis in Huntington’s disease: the Mexican experience. Genetic Testing and Molecular Biomarkers, 13, 717–720.
Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Philippe, K., Demyttenaere, K., Dom, R., et al. (2007). The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. European Journal of Human Genetics, 15, 453–462.
Dufrasne, S., Roy, M., Galvez, M., & Rosenblatt, D. S. (2011). Experience over fifteen years with a protocol for predictive testing for Huntington disease. Molecular Genetics and Metabolism, 102, 494–504.
Evers-Kiebooms, G., Nys, K., Harper, P., Zoeteweij, M., Dürr, A., Jacopini, G., et al. (2002). Predictive DNA-testing for Huntington’s disease and reproductive decision making: a European collaborative study. European Journal of Human Genetics, 10, 167–176.
Foroud, T., Gray, J., Ivashina, J., & Conneally, P. M. (1999). Differences in duration of Huntington’s disease based on age at onset. Journal of Neurology, Neurosurgery, and Psychiatry, 66, 52–56.
Forrest Keenan, K., Miedzybrodzka, Z., van Teijlingen, E., McKee, L., & Simpson, S. A. (2007). Young people’s experiences of growing up in a family affected by Huntington’s disease. Clinical Genetics, 71, 120–129.
Genetic Information Nondiscrimination Act of 2008. (2008). § 42 U.S.C. §1635
Harper, P. S. (1992). The epidemiology of Huntington’s disease. Human Genetics, 89, 365–376.
Harper, P. S., Lim, C., & Craufurd, D. (2000). Ten years of presymptomatic testing for Huntington’s disease: the experience of the UK Huntington’s disease prediction consortium. Journal of Medical Genetics, 37, 567–571.
Huntington, G. (1872). On chorea. In Yudofsky, S.C. The Journal of Neuropsychiatry and Clinical Neurosciences, 15, 109–112. (Reprinted from The medical and surgical reporter: A weekly journal, 26, 317–321).
Huntington’s Disease Collaborative Research Group. (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell, 72, 971–983.
Klitzman, R., Thorne, D., Williamson, J., Chung, W., & Marder, K. (2007). Decision-making about reproductive choices among individuals at-risk for Huntington’s disease. Journal of Genetic Counseling, 16, 347–362.
Koenig, H. G. (2009). Research on religion, spirituality, and mental health: a review. Canadian Journal of Psychiatry, 54, 283–291.
Laccone, F., Engel, U., Hollinski-Feder, E., Weigell-Weber, M., Marczinek, K., Nolte, D., et al. (1999). DNA analysis of Huntington’s disease: five years of experience in Germany, Austria, and Switzerland. Neurology, 53, 801–806.
Panas, M., Karadima, G., Vassos, E., Kalfakis, N., Kladi, A., Christodoulou, K., et al. (2011). Huntington’s disease in Greece: the experience of 14 years. Clinical Genetics, 80, 586–590.
Puchalski, C. (2001). The role of spirituality in health care. Baylor University Medical Center Proceedings, 14, 352–357.
Quaid, K. A., Swenson, M. M., Sims, S. L., Harrison, J. M., Moskowitz, C., Stepanov, N., et al. (2010). What were you thinking?: individuals at risk for Huntington disease talk about having children. Journal of Genetic Counseling, 19, 606–617.
Richards, F. H., & Rea, G. (2005). Reproductive decision making before and after predictive testing for Huntington’s disease: an Australian perspective. Clinical Genetics, 67, 404–411.
Roos, R. A. C., Hermans, J., Vegter-van der Vlis, M., van Ommen, G. J. B., & Bruyn, G. W. (1993). Duration of illness in Huntington’s disease is not related to age at onset. Journal of Neurology, Neurosurgery, and Psychiatry, 56, 98–100.
Rubinsztein, D. C., Leggo, J., Coles, R., Almqvist, E., Biancalana, V., Cassiman, J. J., et al. (1996). Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal individuals with 36–39 repeats. American Journal of Medical Genetics, 59, 16–22.
Simpson, S. A., Besson, J., Alexander, D., Allan, K., & Johnston, A. W. (1992). One hundred requests for predictive testing for Huntington’s disease. Clinical Genetics, 41, 326–330.
Sturrock, A., & Leavitt, B. R. (2010). The clinical and genetic features of Huntington disease. Journal of Geriatric Psychiatry and Neurology, 23, 243–259.
Taylor, S. (2005). Gender differences in attitudes among those at risk for Huntington’s disease. Genetic Testing and Molecular Biomarkers, 9, 152–157.
Trembath, M. K., Tassicker, R. J., Collins, V. R., Mansie, S., Sheffield, L. J., & Delatycki, M. B. (2006). Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia. Genetics in Medicine, 8, 673–680.
U.S. Census Bureau. (2000). Indiana Summary Tables. Retrieved 2012 from http://factfinder2.census.gov.
U.S. Census Bureau. (2010). American FactFinder Sheet: Indiana. Retrieved 2012 from http://factfinder.census.gov.
United States Huntington’s Disease Genetic Testing Group. (2003). Genetic testing for Huntington’s disease: Its relevance and implications (revised). United States of America: Huntington’s Disease Society of America.
Vamos, M., Hambridge, J., Edwards, M., & Conaghan, J. (2007). The impact of Huntington’s disease on family life. Psychosomatics, 48, 400–404.
Van der Meer, L., Timman, R., Trijsburg, W., Duisterhof, M., Erdman, R., Van Elderen, T., et al. (2006). Attachment in families with Huntington’s disease a paradigm in clinical genetics. Patient Education and Counseling, 63, 246–254.
van der Steenstraten, I. M., Tibben, A., Roos, R. A. C., van de Kamp, J. J. P., & Niermeijer, M. F. (1994). Predictive testing for Huntington disease: nonparticipants compared with participants in the Dutch program. American Journal of Human Genetics, 55, 618–625.
Venuto, C. S., McGarry, M., Ma, Q., & Kieburtz, K. (2012). Pharmacologic approaches to the treatment of Huntington’s disease. Movement Disorders, 27, 31–41.
Walker, F. O. (2007). Huntington’s disease. Seminars in Neurology, 27, 143–150.
Williams, J. K., Erwin, C., Juhl, A., Mills, J., Brossman, B., & Paulsen, J. S. (2010). Personal factors associated with reported benefits of Huntington disease family history or genetic testing. Genetic Testing and Molecular Biomarkers, 14, 629–636.
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We thank the patients who presented for HD predictive testing for their time and effort to complete this survey, along with the HD community at large for their support of ongoing research.
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Krukenberg, R.C., Koller, D.L., Weaver, D.D. et al. Two Decades of Huntington Disease Testing: Patient’s Demographics and Reproductive Choices. J Genet Counsel 22, 643–653 (2013). https://doi.org/10.1007/s10897-013-9596-0
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DOI: https://doi.org/10.1007/s10897-013-9596-0