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 registere d with Helix, a national network of DNA diagnostic laboratories. Of 18 6 laboratories asked to respond anonymously to a four-page questionnai re, 156 (84%) replied. A screening question removed 51 laboratories th at 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 miners for late-onset disorders (46%) , for carrier status for recessive disorders (33%), or for disorders f or which the test offers no medical benefit within 3 years (33%). Most laboratories are responsive to parental requests. For 12 of 13 late-o nset disorders, the majority of laboratories that offered testing had had requests to test children. The majority had tested healthy childre n, < 12 years of age, for eight disorders. Approximately 22% had teste d children, < 12 years of age, for Huntington disease. Majorities had received requests to test healthy children for carrier status for 10 o f 15 recessive or X-linked disorders and had tested children, < 12 yea rs of age, for 6 of these disorders, including cystic fibrosis, hemoph ilia A, fragile X syndrome, and Duchenne muscular dystrophy. Approxima tely 45% of the laboratories occasionally had provided tests directly to consumers. In view of the possibility that the harms of presymptoma tic diagnoses of children sometimes may outweigh the benefits, our res ults suggest a need for consistent laboratory policies designed for th e best interests of the child and the family.