lunes, 20 de mayo de 2013

Predictive Gene Testing for Huntington's Diseas... [Intern Med J. 2013] - PubMed - NCBI

Predictive Gene Testing for Huntington's Diseas... [Intern Med J. 2013] - PubMed - NCBI

Intern Med J. 2013 May 9. doi: 10.1111/imj.12176. [Epub ahead of print]

Predictive Gene Testing for Huntington's Disease and Other Neurodegenerative Disorders.


Neurosciences Unit, Western Australian Department of Health, Mt Claremont, Australia.



Controversies exist around predictive testing (PT) programs in neurodegenerative disorders.


This study sets out to answer the following questions relating to Huntington's Disease (HD) and other neurodegenerative disorders: differences between these patients in their PT journeys; why and when individuals withdraw from PT; 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 recognized 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's disease. 13% 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. 38 HD individuals had reproductive genetic testing: 34 initiated prenatal testing (of which 8 withdrew from the process) and 4 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 minimization; and (iii) patient selection.
This article is protected by copyright. All rights reserved.


[PubMed - as supplied by publisher]

No hay comentarios:

Publicar un comentario