There is little information available as to how individuals with genetic disorders receive information about the availability of DNA tests and what effect this has on their utilization.
The purpose of this study was to survey centers where some individuals with neurofibromatosis type 1 (NF 1) are cared for, to establish how this type of information was disseminated.
In 1990 announcement of the availability of testing for familial NF 1 was published in a newsletter of the National Neurofibromatosis Foundation (NNFF) and sent to individuals with NF 1 or NF 2 and their families, professionals, and NF centers in North America.
Two years later these centers were surveyed to determine whether they had notified their patients of test availability.
Mots-clés Pascal : Neurofibromatose Recklinghausen, Conseil génétique, Homme, Diagnostic, Prénatal, Biologie moléculaire, Diffusion information, Système nerveux pathologie, Tumeur bénigne, Phacomatose, Peau pathologie, Maladie héréditaire
Mots-clés Pascal anglais : Neurofibromatosis Recklinghausen, Genetic counseling, Human, Diagnosis, Prenatal, Molecular biology, Information dissemination, Nervous system diseases, Benign neoplasm, Phacomatosis, Skin disease, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 94-0222373
Code Inist : 002B17E. Création : 199406.