Copyright © 2006 Elsevier Inc. All rights reserved.
Predictive testing for Huntington's disease
Available online 9 November 2006.
References and further reading may be available for this article. To view references and further reading you must purchase this article.
Abstract
Worldwide, predictive testing for Huntington's disease has become an accepted clinical application that has allowed many individuals from HD-families to proceed with their life without the uncertainty of being at risk. International guidelines have extensively contributed to establishing counselling programmes of high quality, and have served as a model for other genetic disorders. Psychological follow-up studies have increased the insight into the far-reaching impact of test results for all individuals involved. Although the guidelines have served as a useful frame of reference, clinical experience has shown the importance of a case-by-case approach to do justice to the specific needs of the individual test candidate. Issues such as ambiguous test results, lack of awareness in a test candidate of early signs of the disease, non-compliance to the test protocol, or the test candidate's need for information on the relationship between age at onset and CAG-repeat require careful consideration. Receiving a test result is only one of the transition points in the life of an individual at risk; such result needs to be valued from a life-cycle perspective.
Keywords: Huntington's disease; Predictive testing; Life cycle
Article Outline
- 1. Uptake of testing
- 2. Reactions to test results
- 3. A closer look
- 4. Predictive testing and partners
- 5. The international guidelines
- 6. The counselling programme
- 7. The neurological examination
- 8. Psychological or psychiatric examination
- 9. Predictability of impact of test results
- 10. Ambiguous test results
- 11. CAG-repeat and age of onset
- 12. Prenatal testing
- 13. Support to carriers
- 14. Huntington's disease and the life-cycle orientation
- References







E-mail Article
Add to my Quick Links

Cited By in Scopus (0)





