Laboratory policies and practices for the genetic testing of children : A survey of the helix network.
In order to discover whether laboratories have policies regarding the testing of unaffected children, we surveyed all laboratories registered with Helix, a national network of DNA diagnostic laboratories.
Of 186 laboratories asked to respond anonymously to a four-page questionnaire, 156 (84%) replied.
A screening question removed 51 laboratories that provided no clinical services.
Of the remaining 105,92% said that their requisition forms asked the person's age.
Substantial minorities had policies for the testing of minors for late-onset disorders (46%), for carrier status for recessive disorders (33%), or for disorders for which the test offers no medical benefit within 3 years (33%). Most laboratories are responsive to parental requests.
For 12 of 13 late-onset disorders, the majority of laboratories that offered testing had had requests to test children.
The majority had tested healthy children,<12 years of age, for eight disorders.
Approximately 22% had tested children,<12 years of age, for Huntington disease.
Majorities had received requests to test healthy children for carrier status for 10 of 15 recessive or X-linked disorders and had tested children,<12 years of age, for 6 of these disorders, including cystic fibrosis, hemophilia A, fragile X syndrome, and Duchenne muscular dystrophy.
Approximately 45% of the laboratories occasionally had provided tests directly to consumers. (...)
Mots-clés Pascal : Conseil génétique, Enfant, Homme, Epidémiologie, Economie santé, Diagnostic, Asymptomatique, Politique sanitaire, Pratique professionnelle, Génétique
Mots-clés Pascal anglais : Genetic counseling, Child, Human, Epidemiology, Health economy, Diagnosis, Asymptomatic, Health policy, Professional practice, Genetics
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0036123
Code Inist : 002B23A. Création : 17/04/1998.