Skip to main content
SpringerLink
Log in

The Psychological Impact of Predictive Genetic Testing for Huntington′s Disease: A Systematic Review of the Literature

  • Review Paper
  • Published:
Journal of Genetic Counseling

Abstract

Huntington′s disease (HD) is a neurodegenerative genetic condition for which a predictive genetic test by mutation analysis has been available since 1993. However, whilst revealing the future presence of the disease, testing may have an adverse psychological impact given that the disease is progressive, incurable and ultimately fatal. This review seeks to systematically explore the psychological impact of genetic testing for individuals undergoing pre-symptomatic mutation analysis. Three databases (Medline, PsycInfo and Scopus) were interrogated for studies utilising standardised measures to assess psychological impact following predictive genetic testing for HD. From 100 papers initially identified, eight articles were eligible for inclusion. Psychological impact of predictive genetic testing was not found to be associated with test result. No detrimental effect of predictive genetic testing on non-carriers was found, although the process was not found to be psychologically neutral. Fluctuation in levels of distress was found over time for carriers and non-carriers alike. Methodological weaknesses of published literature were identified, notably the needs of individuals not requesting genetic testing, as well as inadequate support for individuals registering elevated distress and declining post-test follow-up. Further assessment of these vulnerable individuals is warranted to establish the extent and type of future psychological support.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  • Adam, S., Wiggins, S., Lawson, K., McKellin, B. & Hayden, M. (1995). Predictive testing for Huntington disease (HD): Differences in uptake and characteristics of linked marker and direct test cohorts. American Journal of Human Genetics: 57(suppl.), A292

  • Almqvist, E. W., Brinkman, R. R., Wiggins, S., & Hayden, M. R. (2003). Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington′s disease. Clinical Genetics, 64, 300–309.

    Article  CAS  PubMed  Google Scholar 

  • Arran, N., Craufurd, D., & Simpson, J. (2014). Illness perceptions, coping styles and psychological distress in adults with Huntington′s disease. Psychology, Health & Medicine, 19, 169–179.

    Article  Google Scholar 

  • Beck, A. T., Ward, C. H., Mendelson, M., Mock, J., & Erbaugh, J. (1961). An inventory for measuring depression. Archives of General Psychiatry, 4, 561–571.

    Article  CAS  PubMed  Google Scholar 

  • Beck, A. T. (1974). The measurement of pessimism: The hopelessness scale. Journal of Consulting and Clinical Psychology, 42, 861–865.

    Article  CAS  PubMed  Google Scholar 

  • Bisson, J. I., Jenkins, P. L., Alexander, J., & Bannister, C. (1997). Randomised controlled trial of psychological debriefing for victims of acute burn trauma. British Journal of Psychiatry, 171, 78–81.

    Article  CAS  Google Scholar 

  • Broadstock, M., Michie, S., & Marteau, T. M. (2000). The psychological consequences of predictive genetic testing: A systematic review. European Journal of Human Genetics, 8, 731–738.

    Article  CAS  PubMed  Google Scholar 

  • Bullinger, M., & Kirchberger, I. (1998). SF-36: Fragebogen zum Gesundheitszustand. Göttingen: Hogrefe.

    Google Scholar 

  • Codori, A., Slavney, P. R., Young, C., Miglioretti, D. L., & Brandt, J. (1997). Predictors of psychological adjustment to genetic testing for Huntington′s disease. Health Psychology, 16, 36–50.

    Article  CAS  PubMed  Google Scholar 

  • Craufurd, D., Dodge, A., Kerzin-Storrar, L., & Harris, R. (1989). Uptake of presymptomatic predictive testing for Huntington′s disease. Lancet, 334, 603–605.

    Article  Google Scholar 

  • Da Costa, B. R., Cevallos, M., Altman, D. G., Rutjes, A. W. S., & Egger, M. (2011). Uses and misuses of the STROBE statement: Bibliographic study. BMJ Open, 1, e000048.

    Article  PubMed  PubMed Central  Google Scholar 

  • Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cassiman, J. J., Cloostermans, T., Demyttenaere, K., et al. (1996). Prediction of psychological functioning one year after the predictive test for Huntington′s disease and impact of the test result on reproductive decision making. Journal of Medical Genetics, 33, 737–743.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Decruyenaere, M., Evers-Kiebooms, G., Boogaerts, A., Cloostermans, T., Cassiman, J., Demyttenaere, K., et al. (1997). Non-participation in predictive testing for Huntington disease: Individual decision-making, personality and avoidant behavior in the family. European Journal of Human Genetics, 5, 351–363.

    Article  CAS  PubMed  Google Scholar 

  • Derogatis, L., & Melisaratos, N. (1983). The brief symptom inventory: An introductory report. Psychological Medicine, 13, 595–605.

    Article  CAS  PubMed  Google Scholar 

  • Dudok DeWit, A. C., Tibben, A., Duivenoorden, H. J., Frets, P. G., Zoeteweij, M. W., Losekoot, M., et al. (1997). Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. Journal of Medical Genetics, 34, 382–390.

    Article  CAS  Google Scholar 

  • Dudok DeWit, A. C., Duivenvoorden, H. J., Passchier, J., Niermeijer, M. F., & Tibben, A. (1998). Course of distress experienced by persons at risk for an autosomal dominant inheritable disorder participating in a predictive testing program: An explorative study. Psychosomatic Medicine, 60, 543–549.

    Article  CAS  PubMed  Google Scholar 

  • Duncan, R. E., Gillam, L., Savulescu, J., Williamson, R., Rogers, J. G., & Delatycki, M. B. (2008). “You’re one of us now”: Young people describe their experience of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 148C, 47–55.

    Article  Google Scholar 

  • Evers-Kiebooms, G., & Decruyenaere, M. (1998). Predictive testing for Huntington′s disease: A challenge for persons at risk and for professionals. Patient Education and Counseling, 35, 15–26.

    Article  CAS  PubMed  Google Scholar 

  • Fanos, J. H., & Johnson, J. P. (1995). Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing. American Journal of Medical Genetics, 59, 85–91.

    Article  CAS  PubMed  Google Scholar 

  • Folstein, S. E. (1989). Huntington′s Disease: A Disorder of Families. Baltimore, MD: John Hopkins University Press.

    Google Scholar 

  • Fox, S., Bloch, M., Fahy, M., & Hayden, M. R. (1989). Predictive testing for Huntington′s disease: I Description of a pilot project in British Columbia. American Journal of Medical Genetics Part A, 32, 211–216.

    Article  CAS  Google Scholar 

  • Gargiulo, M., Lejeune, S., Tanguy, M. L., Lahlou-Laforêt, K., Faudet, A., Cohen, D., et al. (2009). Long-term outcome of presymptomatic testing in Huntington disease. European Journal of Human Genetics, 17, 165–171.

    Article  PubMed  Google Scholar 

  • Geller, G., & Holtzman, N. A. (1995). A qualitative assessment of primary care physicians’ perceptions about the ethical and social implications of offering genetic testing. Qualitative Health Research, 5, 97–116.

    Article  Google Scholar 

  • Goldberg, D., & Williams, P. (1988). A User′s Guide to the General Health Questionnaire. Nfer-Nelson: Windsor.

    Google Scholar 

  • Gooding, H. C., Organista, K., Burack, J., & Bowles Biesecker, B. (2006). Genetic susceptibility testing from a stress and coping perspective. Social Science & Medicine, 62, 1880–1890.

    Article  Google Scholar 

  • Graham, J. R. (1987). The MMPI: A practical guide. New York: Oxford University Press.

    Google Scholar 

  • Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., et al. (1983). A polymorphic DNA marker genetically linked to Huntington′s disease. Nature, 306, 234–238.

    Article  CAS  PubMed  Google Scholar 

  • Hagberg, A., Winnberg, E., & Bui, T. H. (2011). More appreciation of life or regretting the test? Experiences of living as a mutation carrier of Huntington′s disease. Journal of Genetic Counseling, 20, 70–79.

    Article  PubMed  Google Scholar 

  • Hayden, M. R., & Bombard, Y. (2005). Psychosocial effects of predictive testing for Huntington′s disease. Advances in Neurology, 96, 226–239.

    PubMed  Google Scholar 

  • Hobbs, M., Mayou, R., Harrison, B., & Worlock, P. (1996). A randomised controlled trial of psychological debriefing for victims of road traffic accidents. British Medical Journal, 313, 1438–1439.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hocaoglu, M. B., Gaffan, E. A., & Ho, A. K. (2012). The Huntington′s disease health-related quality of life questionnaire (HDQoL): A disease specific measure of health-related quality of life. Clinical Genetics, 81, 117–122.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Horowitz, M. J., Wilner, N., & Alvarez, W. (1979). Impact of events scale: A measure of subjective stress. Psychosomatic Medicine, 41, 209–218.

    Article  CAS  PubMed  Google Scholar 

  • Horowitz, M. J., Field, N. P., Zanko, A., Donnelly, E. F., Epstein, C., & Longo, F. (2001). Psychological impact of news of genetic risk for Huntington disease. American Journal of Medical Genetics, 103, 188–192.

    Article  CAS  PubMed  Google Scholar 

  • Huggins, M., Bloch, M., Wiggins, S., Adam, S., Suchowersky, O., Trew, M., et al. (1992). Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. American Journal of Medical Genetics, 42, 508–515.

    Article  CAS  PubMed  Google Scholar 

  • Huntington Study Group. (1996). Unified Huntington′s disease rating scale: Reliability and consistency. Movement Disorders, 11(2), 136–142.

    Article  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Huntington′s Disease Society of America (2001). Genetic testing for Huntington′s disease: Its relevance and implications (Revised. Retrieved November 2013 from: https://doi.org/www.hdsa.org/images/content/1/1/11884.pdf

  • Huntington, G. (1872). On chorea. Journal of Neuropsychiatry and Clinical Neurosciences, 15, 109–112.

    Article  Google Scholar 

  • International Huntington Association and the World Federation of Neurology Research Group on Huntington′s Chorea. (1994). Guidelines for the molecular genetics predictive test in Huntington′s disease. Journal of Medical Genetics, 31, 557–559.

    Google Scholar 

  • Janoff-Bulman, R. (1992). Shattered Assumptions: Towards a New Psychology of Trauma. New York: The Free Press.

    Google Scholar 

  • Kessler, S. (1987). Psychiatric implications of presymptomatic testing for Huntington′s disease. American Journal of Orthopsychiatry, 57, 212–219.

    Article  PubMed  Google Scholar 

  • Kessler, S., Field, T., & Worth, L. (1987). Attitudes of persons at risk for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk. American Journal of Medical Genetics, 26, 259–270.

    Article  CAS  PubMed  Google Scholar 

  • Kessler, S. (1994). Predictive testing for Huntington′s disease: A psychologist′s view. American Journal of Medical Genetics, 54, 161–166.

    Article  CAS  PubMed  Google Scholar 

  • Koller, W. E., & Davenport, J. (1984). Genetic testing in Huntington′s disease. Annals of Neurology, 16, 511–513.

    Article  CAS  PubMed  Google Scholar 

  • Konrad, M. (2003). Predictive genetic testing and the making of the pre-symptomatic person: Prognostic moralities amongst Huntington′s affected families. Anthropology & Medicine, 10, 23–49.

    Article  Google Scholar 

  • Larsson, M. U., Luszez, M. A., Bui, T. H., & Wahlin, T. B. R. (2006). Depression and suicidal ideation after predictive testing for Huntington′s disease: A two-year follow up study. Journal of Genetic Counseling, 15, 361–374.

    Article  PubMed  Google Scholar 

  • Leventhal, H., Leventhal, E. A., & Contrada, R. J. (1998). Self regulation, health and behavior: A perceptual-cognitive approach. Psychology & Health, 13, 717–733.

    Article  Google Scholar 

  • Leventhal, H., Leventhal, E. A. & Cameron, L. (2001). Representations, procedures, and affect in illness self-regulation: A perceptual-cognitive model. In A. Baum, T. A. Revenson & J. E. Singer (Eds.). Handbook of Health Psychology. Lawrence Erlbaum Associates: Mahwah, NJ. pp. 19–47

  • Licklederer, C., Wolff, G., & Barth, J. (2008). Mental health and quality of life after genetic testing for Huntington disease: A long term effect study in Germany. American Journal of Medical Genetics. Part A, 146, 2078–2085.

    Article  Google Scholar 

  • MacLeod, R., Tibben, A., Frontali, M., Evers-Kiebooms, G., Martinex-Descales, A., Roos, R. A., et al. (2012). Recommendations for the predictive genetic test in Huntington′s disease. Clinical Genetics, 83, 221–231.

    Article  PubMed  Google Scholar 

  • McNally, R. J., Bryant, R. A., & Bryant, A. (2003). Does early psychological intervention promote recovery from posttraumatic stress? Psychological Science in the Public Interest:, 4, 45–79.

    Article  Google Scholar 

  • Meiser, B., & Dunn, S. (2000). Psychological impact of genetic testing for Huntington′s disease: An update of the literature. Journal of Neurology, Neurosurgery & Psychiatry, 69, 574–578.

    Article  CAS  Google Scholar 

  • Michie, S., Bobrow, M., & Marteau, T. M. (2001). Predictive genetic testing in children and adults: A study of emotional impact. Journal of Medical Genetics, 38, 519–526.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Moher, D., Liberati, A., Tetzlaff, J., & Altman, D. G. (2009). Preferred reporting items for systematic reviews and meta analyses: The prisma statement. PLoS Medicine, 6, e1000097.

    Article  PubMed  PubMed Central  Google Scholar 

  • Myers, R. H. (2004). Huntington′s disease genetics. Journal of the American Society for Experimental Neurotherapeutics:, 1, 255–262.

    Article  Google Scholar 

  • O′Rourke, J. J. F. (2011). Posttraumatic growth in Huntington disease: Measuring the effects of genetic testing and disease on positive psychological change. Unpublished PhD thesis, University of Iowa

  • Patrick, D. L. & Deyo, R. A. (1989). Generic and disease-specific measures in assessing health status and quality of life. Medical Care: 27 (supplement 3), S217-32

    Article  CAS  PubMed  Google Scholar 

  • Pringsheim, T., Wiltshire, K., Day, L., Dykeman, J., Steeves, T., & Jette, N. (2012). The incidence and prevalence of Huntington′s disease: A systematic review and meta-analysis. Movement Disorders, 27, 1083–1091.

    Article  PubMed  Google Scholar 

  • Quaid, K. A., & Morris, M. (1993). Reluctance to undergo predictive testing: The case of Huntington disease. American Journal of Medical Genetics, 45, 41–45.

    Article  CAS  PubMed  Google Scholar 

  • Rolland, J. S. (1984). Toward a psychosocial typology of chronic and life-threatening illness. Family Systems Medicine:, 2, 245–263.

    Article  Google Scholar 

  • Rolland, J. S., & Williams, J. K. (2005). Toward a biopsychosocial model for 21st century genetics. Family Process, 44, 3–24.

    Article  PubMed  Google Scholar 

  • Rozema, H., Völlink, T., & Lechner, L. (2009). The role of illness representations in coping and health of patients treated for breast cancer. Psycho-Oncology, 18, 849–857.

    Article  PubMed  Google Scholar 

  • Salkovskis, P. M., & Rimes, K. A. (1997). Predictive genetic testing: Psychological factors. Journal of Psychosomatic Research, 43, 477–487.

    Article  CAS  PubMed  Google Scholar 

  • Schwartz, R. R. (2010). Ripples from a stone skipping across the lake: A narrative approach to the meaning of Huntington′s disease. Journal of Neuroscience Nursing, 42, 157–168.

    Article  Google Scholar 

  • Senior, V., Marteau, T. M., & Peters, T. P. (1999). Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia. Social Science & Medicine, 48, 1857–1860.

    Article  CAS  Google Scholar 

  • Sobel, S. K., & Cowen, D. B. (2000). Impact of genetic testing for Huntington disease on the family system. American Journal of Medical Genetics, 90, 49–59.

    Article  CAS  PubMed  Google Scholar 

  • Spielberger, C. D. (1983). State Trait Anxiety Inventory. Palo Alto, CA: Consulting Psychologists Press.

    Google Scholar 

  • Snell, W. E., Johnson, G., Lloyd, P. J., & Hoover, M. W. (1991). The health orientation scale: A measure of psychological tendencies associated with health. European Journal of Personality, 5, 169–183.

    Article  Google Scholar 

  • Tedeschi, R. G., & Calhoun, L. G. (2004). Posttraumatic growth: Conceptual foundations and empirical evidence. Psychological Inquiry, 15, 1–18.

    Article  Google Scholar 

  • Timman, R., Roos, R., Maat-Kievit, A., & Tibben, A. (2004). Adverse effects of predictive testing for Huntington disease underestimated: Long-term effects 7–10 years after the test. Health Psychology, 23, 189–197.

    Article  PubMed  Google Scholar 

  • Tyler, A., & Harper, P. S. (1983). Attitudes of subjects at risk and their relatives towards genetic counseling in Huntington′s chorea. Journal of Medical Genetics, 20, 179–188.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    PubMed  PubMed Central  Google Scholar 

  • Von Elm, E., Altman, D. G., Egger, M., Pocock, S. J., Gøtzsche, P. C., & Vandenbrouche, J. P. (2008). The strengthening the reporting of observational studies in epidemiology (STROBE) statement: Guidelines for reporting observational studies. Journal of Clinical Epidemiology, 61, 344–349.

    Article  Google Scholar 

  • Wahlin, T. B. R., Bäckman, L., Lundin, A., Haegermark, A., Winblad, B., & Anvret, M. (2000). High suicidal ideation in persons testing for Huntington′s disease. Acta Neurologica Scandinavica, 102, 150–161.

    Article  Google Scholar 

  • Witjes-Ané, M. N. W., Zwinderman, A. H., Tibben, A., Van Ommen, G. J. B., & Roos, R. A. C. (2002). Behavioural complaints in participants who underwent predictive testing for Huntington′s disease. Journal of Medical Genetics, 39, 857–862.

    Article  PubMed  PubMed Central  Google Scholar 

  • Zebrack, B. J., Ganz, P. A., Bernaards, C. A., Petersen, L., & Abraham, L. (2006). Assessing the impact of cancer: Development of a new instrument for long-term survivors. Psycho-Oncology, 15, 407–421.

    Article  PubMed  PubMed Central  Google Scholar 

  • Zebrack, B. J., Yi, J., Petersen, L., & Ganz, P. A. (2008). The impact of cancer and quality of life for long-term survivors. Psycho-Oncology, 17, 891–900.

    Article  PubMed  Google Scholar 

Download references

Conflict of Interest Statement

S Crozier, N Robertson and M Dale declare that they have no conflict of interest.

Human Studies and Informed Consent

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

Animal Studies

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

Author information

Authors and Affiliations

  1. Department of Clinical Psychology, University of Leicester, 104 Regent Road, Leicester, UK

    S Crozier & N Robertson

  2. Adult Mental Health Psychology, Leicestershire Partnership NHS Trust, Leicester, UK

    M Dale

Authors
  1. S Crozier
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. N Robertson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M Dale
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to N Robertson.

Additional information

This manuscript is submitted solely to this journal and was not published elsewhere.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Crozier, S., Robertson, N. & Dale, M. The Psychological Impact of Predictive Genetic Testing for Huntington′s Disease: A Systematic Review of the Literature. J Genet Counsel 24, 29–39 (2015). https://doi.org/10.1007/s10897-014-9755-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-014-9755-y

Keywords

Search

Navigation