Dedication: This paper is dedicated to Toni Liebeck, social worker, who died suddenly and unexpectedly during its preparation: her commitment to the predictive testing programme was an inspiration to all involved.
Predictive gene testing for Huntington disease and other neurodegenerative disorders
Article first published online: 12 DEC 2013
© 2013 The Authors; Internal Medicine Journal © 2013 Royal Australasian College of Physicians
Internal Medicine Journal
Volume 43, Issue 12, pages 1272–1279, December 2013
How to Cite
Wedderburn, S., Panegyres, P. K., Andrew, S., Goldblatt, J., Liebeck, T., McGrath, F., Wiltshire, M., Pestell, C., Lee, J. and Beilby, J. (2013), Predictive gene testing for Huntington disease and other neurodegenerative disorders. Internal Medicine Journal, 43: 1272–1279. doi: 10.1111/imj.12176
Conflict of interest: None.
- Issue published online: 12 DEC 2013
- Article first published online: 12 DEC 2013
- Accepted manuscript online: 9 MAY 2013 03:10AM EST
- Manuscript Accepted: 18 MAR 2013
- Manuscript Received: 12 SEP 2012
- predictive gene testing;
- Huntington disease;
- neurodegenerative disorder
Controversies exist around predictive testing (PT) programmes in neurodegenerative disorders.
This study sets out to answer the following questions relating to Huntington disease (HD) and other neurodegenerative disorders: differences between these patients in their PT journeys, why and when individuals withdraw from PT, and decision-making processes regarding reproductive genetic testing.
A case series analysis of patients having PT from the multidisciplinary Western Australian centre for PT over the past 20 years was performed using internationally recognised guidelines for predictive gene testing in neurodegenerative disorders.
Of 740 at-risk patients, 518 applied for PT: 466 at risk of HD, 52 at risk of other neurodegenerative disorders – spinocerebellar ataxias, hereditary prion disease and familial Alzheimer disease. Thirteen per cent withdrew from PT – 80.32% of withdrawals occurred during counselling stages. Major withdrawal reasons related to timing in the patients' lives or unknown as the patient did not disclose the reason. Thirty-eight HD individuals had reproductive genetic testing: 34 initiated prenatal testing (of which eight withdrew from the process) and four initiated pre-implantation genetic diagnosis. There was no recorded or other evidence of major psychological reactions or suicides during PT.
People withdrew from PT in relation to life stages and reasons that are unknown. Our findings emphasise the importance of: (i) adherence to internationally recommended guidelines for PT; (ii) the role of the multidisciplinary team in risk minimisation; and (iii) patient selection.