[Multidisciplinary approach to counseling in Huntington's disease]

Abstract

The recent cloning of the Huntington's disease gene now allows definitive presymptomatic and even prenatal testing. This achievement has posed a considerable challenge for the genetic counselor. We present the multidisciplinary approach implemented in our center, and experience in our first 13 diagnoses. Individuals at risk undergo neuropsychiatric evaluation, genetic counseling, molecular studies, post-counselling follow-up and support according to the protocols suggested by the International Huntington's Disease Association. Molecular studies of cytosine-arginine-guanine repeats showed that 4 individuals and 1 at-risk fetus were unaffected and 6 at-risk individuals, including the mother of the fetus, had inherited the disease mutation. The diagnosis was excluded in 2 individuals clinically suspected of Huntington's disease. All but 1 of those investigated had accepted, and adapted to the new reality. The exception was a carrier who asked to discontinue the contact a week after being informed of the results.