Carrier testing of children for two X-linked diseases: A retrospective study of comprehension of the test results and social and psychological significance of the testing

Objective. To evaluate long-term consequences of genetic carrier testing pe rformed in childhood in terms of awareness and comprehension of the test re sult, and the social and psychological significance of such testing. Study Design. The families of 66 young females who had been tested for carr iership during childhood between 1984 and 1988 were approached. Of the 66 f amilies, 23 young females in families affected by Duchenne muscular dystrop hy (DMD), 23 young females in families affected by hemophilia A (HA), and t heir mothers participated in our study. We used a questionnaire including m ultiple-choice and open-ended questions. Results. Of the young female participants tested in the families affected b y DMD or HA, 65% knew their test results. Only 65% of DMD mothers and 78% o f HA mothers remembered correctly the test results of their daughters. The majority (83%) of the young females tested sought no genetic counseling whe n reaching adulthood. The reason for this was not determined. Most (78%) re ported that the test result had not influenced their lives, whereas some fe lt relieved to know they had not been carriers. Talking about hereditary di sease in the family and between friends was open, and results of the carrie r test had usually been told to friends. Conclusion. Carrier testing was in most cases correctly understood and the matter openly discussed. Our results do not suggest that testing in childho od had caused serious harm to the young individuals tested. On the other ha nd, we found no obvious benefits from this early testing.