Predictive testing for Huntington's disease.
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.
Tibben
Aad
A
Centre for Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. a.tibben@lumc.nl
D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000523:psychology*; D005820:Genetic Testing / Q000523:psychology*; D017408:Guidelines as Topic; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000523:psychology*