Laboratory Policies and Practices for the Genetic Testing of Children: A Survey of the Helix Network

Dorothy C. Wertz, Philip R. Reilly
1997 American Journal of Human Genetics  
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 fourpage 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
more » ... es 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 Xlinked 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. In view of the possibility that the harms of presymptomatic diagnoses of children sometimes may outweigh the benefits, our results suggest a need for consistent laboratory policies designed for the best interests of the child and the family.
doi:10.1086/301593 pmid:9345088 pmcid:PMC1716052 fatcat:k27xezwul5do3c63xlqnfxfm4q