Journal of Genetic Counseling

, Volume 19, Issue 6, pp 606–617 | Cite as

What Were You Thinking?: Individuals at Risk for Huntington Disease Talk About Having Children

  • Kimberly A. Quaid
  • Melinda M. Swenson
  • Sharon L. Sims
  • Joan M. Harrison
  • Carol Moskowitz
  • Nonna Stepanov
  • Gregory W. Suter
  • Beryl J. Westphal
  • Huntington Study Group PHAROS Investigators and Coordinators
Original Research


Most of the research on reproduction in those at risk for Huntington Disease (HD) has focused on the impact of genetic testing on reproductive decision-making. The main goal has been to determine whether discovering one is a carrier of the HD mutation changes an individual’s or couple’s decision to start a family or to have more children. The purpose of this qualitative study was to examine reproductive decision-making in a sample of individuals at risk for HD who have chosen not to pursue genetic testing. PHAROS (Prospective Huntington At Risk Observational Study) is a multi-site study that aims to establish whether experienced clinicians can reliably determine the earliest clinical symptoms of HD in a sample of individuals at 50% risk who have chosen not to pursue genetic testing. Data for this article were obtained from unstructured open ended qualitative interviews of a subsample of individuals participating in the PHAROS project. Interviews were conducted at six PHAROS research sites across the United States. In this paper, the research team used qualitative descriptive methods to construct and explore reproduction decision-making in three groups of people: 1) those who knew of their risk and decided to have children; 2) those who had children before they knew of their risk, and 3) those who chose not to have children based on their risk. We discuss the delicate balance health care professionals and genetic counselors must maintain between the benefits of providing hope and the dangers of offering unrealistic expectations about the time in which scientific advances actually may occur.


Genetic disease Huntington disease Reproduction Reproductive decision-making 



We would like to express our gratitude to the PHAROS participants who so generously gave of their time in order to make this work possible. This research was supported by a grant number 1RO1HG02449 received from the Ethical, Legal and Social Implications Program of the National Human Genome Research Institute and the Indiana University School of Medicine GCRC Grant M01RR00750.

A full list of PHAROS investigators and coordinators can be found in Shoulson et al. (2006). At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled. Archives of Neurology, 63: 991–998.


  1. Creighton, S., Almqvist, E. W., MacGregor, D., Fernandez, B., Hogg, H., Beis, J. D., et al. (2003). Predictive, pre-natal and diagnostic genetic testing for Hintington disease: the experience in Canada from 1987 to 2000. Clinical Genetics, 63, 462–475.CrossRefPubMedGoogle Scholar
  2. Decruyenaere, M., Evers-Kieboom, G., Boogarerts, A., Cassiman, J. J., Cloostermans, T., Demytteneaere, K., et al. (1996). Prediction of psychological functioning one year after the predictive test for Huntington's disease and impact of test results on reproductive decision making. Journal of Medical Genetics, 33, 737–743.CrossRefPubMedGoogle Scholar
  3. Decruyenaere, M., Evers-Kieboom, G., Boogarerts, A., Phillippe, K., Demytteneaere, 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.CrossRefPubMedGoogle Scholar
  4. Downing, C. (2005). Negotiating responsibility: case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease. Journal of Genetic Counseling, 14, 219–234.CrossRefPubMedGoogle Scholar
  5. Evers-Kieboom, G., Nys, K., Harper, P., Zoeteweij, M., Durr, A., Jacopini, G., et al. (2002). Predictive DNA testing for Huntington disease and reproductive decision making: a European collaborative study. European Journal of Genetics, 10, 167–176.CrossRefGoogle Scholar
  6. Folstein, S. E. (1989). Huntington's disease: A disorder of families. Baltimore: The Johns Hopkins University Press.Google Scholar
  7. Harper, P. S. (1991). Huntington’s disease. London: W.B. Saunders Company, Ltd.Google Scholar
  8. Hayden, M. R. (Ed.). (1981). Huntington’s chorea. Berlin: Springer-Verlag.Google Scholar
  9. Huntington-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.CrossRefGoogle Scholar
  10. Kessler, S., Field, T., Worth, L., & Mosbarger, H. (1987). Attitudes of persons at risk for Huntington’s disease toward predictive testing. American Journal of Medical Genetics, 26, 259–270.CrossRefPubMedGoogle Scholar
  11. 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.CrossRefPubMedGoogle Scholar
  12. March, J. G. (1994). A primer on decision making: How decisions happen. New York: The Free.Google Scholar
  13. Markel, D. S., Young, A. B., & Penney, J. B. (1987). At risk persons attitudes towards presymptomatic and prenatal testing of Huntington’s disease in Michigan. American Journal of Medical Genetics, 26, 295–305.CrossRefPubMedGoogle Scholar
  14. Mastromauro, C., Myers, R. H., Berkman, B., Opitz, J. M., & Reynolds, J. F. (1987). Attitudes toward presymptomatic testing in Huntington’s disease. American Journal of Medical Genetics, 26, 271–282.CrossRefPubMedGoogle Scholar
  15. Meissen, G. J., Berchek, R. L., Opitz, J. M., & Reynolds, J. F. (1987). Intended use of predictive testing by those at risk for Huntington disease. American Journal of Medical Genetics, 26, 283–293.CrossRefPubMedGoogle Scholar
  16. Quaid, K., Sims, S., Swenson, M., Harrison, J. M., Moskowitz, C., Stepanov, N., et al. (2008). Living at risk: concealing risk and preserving hope in Huntington disease. Journal of Genetic Counseling, 17(1), 117–128.CrossRefPubMedGoogle Scholar
  17. Richards, F. H., & Rea, G. (2005). Reproductive decision making before and after predictive testing for Huntington disease: an Australian perspective. Clinical Genetics, 67, 404–411.CrossRefPubMedGoogle Scholar
  18. Sandelowski, M. (2000). Whatever happened to qualitative description? Research in Nursing and Health, 23, 334–340.Google Scholar
  19. Shoulson, I., & Huntington-Study-Group-PHAROS-Investigators. (2006). At risk for Huntingon’s disease: the PHAROS (Prospective Huntington At RIsk Observational Study) cohort enrolled. Archives of Neurology, 63, 991–998.CrossRefGoogle Scholar
  20. Steinbruner, J. (1974). The cybernetic theory of decision. Princeton: Princeton University Press.Google Scholar
  21. Tyler, A., Ball, D., & Crauford, D. (1992). Presymptomatic testing for Huntington’s disease in the United Kingdom. British Medical Journal, 304, 1593–1596.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2010

Authors and Affiliations

  • Kimberly A. Quaid
    • 1
  • Melinda M. Swenson
    • 2
  • Sharon L. Sims
    • 2
  • Joan M. Harrison
    • 3
  • Carol Moskowitz
    • 4
  • Nonna Stepanov
    • 5
  • Gregory W. Suter
    • 6
  • Beryl J. Westphal
    • 7
  • Huntington Study Group PHAROS Investigators and Coordinators
  1. 1.Department of Medical and Molecular GeneticsIndiana University School of MedicineIndianapolisUSA
  2. 2.Department of Family Health NursingIndiana University School of NursingIndianapolisUSA
  3. 3.Department of NeurologyEmory University School of NursingAtlantaUSA
  4. 4.Department of NeurologyColumbia UniversityNew YorkUSA
  5. 5.Ohio State UniversityDublinUSA
  6. 6.Hereditary Neurological Disease CentreWichitaUSA
  7. 7.Department of NeurologyHennepin County Medical CenterMinneapolisUSA

Personalised recommendations