Abstract
The aims of this study were to: 1) quantify the characteristics of those seeking presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting times between the various steps within the testing process, and 4) quantify the outcomes of testing at a large state-wide genetic testing center in Australia. A review of medical charts for all referrals for presymptomatic testing of Huntington disease received over a 4 year period (2006–2010) was undertaken. A total of 152 cases met the study inclusion criteria; the mean age was 39 years, 46 % were male and 61 % underwent genetic testing. Of the males who were tested there was a non-significant trend towards having an affected mother vs father (62 %, p = 0.09), whereas females tested were just as likely to have an affected mother or father. The most frequently cited reasons for seeking testing were “family planning”, “plan future”, and “need to know”. Some 11 % deferred testing following the psychological assessment. Of those at 50 % prior risk, 57.5 % tested positive; this was higher than expected and much higher than reported in other studies. The median times from referral to initial appointment, and then to results was 69 days and 144 days respectively. Overall, this review of medical charts shows the depth of information obtainable from routinely collected data and revealed that a high proportion of patients tested positive for HD at this centre.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Australian Bureau of Statistics. (2011). Australian demographic statistics (Vol. 3101.0). Canberra.
Chong, S. S., Almqvist, E., Telenius, H., LaTray, L., Nichol, K., Bourdelat-Parks, B., & Hayden, M. R. (1997). Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Human Molecular Genetics, 6, 302–309.
Creighton, S., Almqvist, E., MacGregor, D., Fernandez, B., Hogg, H., Beis, J., et al. (2003). Predictive, pre-natal and diagnostic genetic testing for Huntington’s disease: the experience in Canada from 1987 to 2000. Clinical Genetics, 63(6), 462–475.
Decruyenaere, M., Evers-Kiebooms, G., Cloostermans, T., Boogaerts, A., Demyttenaere, K., Dom, R., & Fryns, J. (2003). Psychological distress in the 5-year period after predictive testing for Huntington’s disease. European Journal of Human Genetics, 11, 30–38.
Dufrasne, S., Roy, M., Galvez, M., & Rosenblatt, D. (2011). Experience over 15 years with a protocol for predictive testing for Huntington disease. Molecular Genetics and Metabolism, 102(4), 494–504.
Futter, M., Heckmann, J., & Greenberg, L. (2009). Predictive testing for Huntington disease in a developing country. Clinical Genetics, 75(1), 92–97.
Harper, P., 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.
Hogarth, P. (2003). Huntington’s disease: a decade beyond gene discovery. Current Neurology and Neuroscience Reports, 3, 279–284.
Human Genetics Society of Australasia. (2005). Presymptomatic and predictive testing for genetic disorders. Sydney: HGSA.
International Huntington Association and World Federation of Neurology Research Group on Huntington’s Chorea. (1994). Guidelines for the molecular genetics predictive test for Huntington’s disease. Neurology, 44, 1533–1536.
Pakenham, K., Goodwin, V., & MacMillan, J. (2004). Adaptation to being at-riskfor Huntington’s disease and the availability or genetic testing: application of a stress and coping model. Psychology, Health and Medicine, 9, 380–397.
Semaka, A., Collins, J., & Hayden, M. (2010). Unstable familial transmissions of Huntington disease alleles with 27–35 CAG repeats (intermediate alleles). Americal Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 153B, 314–320.
Sizer, E., Haw, T., Wessels, T.-M., Kromberg, J., & Krause, A. (2012). The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for Huntington disease in Johannesburg, South Africa. Genetic Testing and Molecular Biomarkers, 16(1), 58–62.
Solden, J., Street, E., Gray, J., Binedell, J., & Harper, P. (2000). Psychological model for presymptomatic test interviews: lessons learned from Huntington disease. Journal of Genetic Counseling, 9(1), 15–31.
Tassicker, R., Marshall, P., Liebeck, T., Keville, M., Singaram, B., & Richards, F. (2006). Predictive and pre-natal testing for Huntington disease in Australia: results and challenges encountered during a 10-year period (1994–2003). Clinical Genetics, 70, 480–489.
Trembath, M., Tassicker, R., Collins, V., Mansie, S., Sheffield, L., & Delatycki, M. (2006). Fifteen years of experience in predictive testing for Huntington disease at a single testing centre in Victoria, Australia. Genetics in Medicine, 8(11), 673–680.
Acknowledgments
This study was funded by a Royal Brisbane and Womens Hospital Foundation research grant.
Conflict of interest statement
The authors, Tracey Scuffham and John MacMillan, declare that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Scuffham, T.M., MacMillan, J.C. Huntington Disease: Who Seeks Presymptomatic Genetic Testing, Why and What are the Outcomes?. J Genet Counsel 23, 754–761 (2014). https://doi.org/10.1007/s10897-013-9678-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-013-9678-z