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  1. Laboratory policies and practices for the genetic testing of children : A survey of the helix network.

    Article - En anglais

    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

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 98-0036123

    Code Inist : 002B23A. Création : 17/04/1998.