Background Predictive genetic testing for Huntington's disease has been available in Cardiffsince 1987 using linked genetic markers, and since 1993 using direct mutation testing, which can also be used as a diagnostic test.
During this period there have been numerous referrals that have required liaison with psychiatric services at all stages ofthe testing programme.
Method A series of cases was selected to highlight issues from both genetic prediction and diagnosis that are relevant to psychiatric practice and have arisen during the testing programme.
Results Issues have been raised concerning competence to consent to testing in the context of psychotic illness ; depression and suicidal ideation in test candidates ; requests for testing from third parties such as psychiatrists, social services and the courts ; and testing ofchildren.
Conclusions Asgenetic testing becomes possible for more disorders the lessons learned from Huntington's disease will provide valuable guidelines for counselling.
Mots-clés Pascal : Chorée Huntington, Diagnostic, Marqueur génétique, Prédiction, Conseil génétique, Rôle thérapeutique, Psychiatre, Pratique professionnelle, Personnel sanitaire, Homme, Système nerveux pathologie, Système nerveux central pathologie, Encéphale pathologie, Extrapyramidal syndrome, Maladie dégénérative, Maladie héréditaire
Mots-clés Pascal anglais : Huntington disease, Diagnosis, Genetic marker, Prediction, Genetic counseling, Therapeutic role, Psychiatrist, Professional practice, Health staff, Human, Nervous system diseases, Central nervous system disease, Cerebral disorder, Extrapyramidal syndrome, Degenerative disease, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0224099
Code Inist : 002B18H04. Création : 11/06/1997.