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

Abstract

Objective. To evaluate long-term consequences of genetic carrier testing performed in childhood in terms of awareness and comprehension of the test result, and the social and psychological significance of such testing. Study Design. The families of 66 young females who had been tested for carriership during childhood between 1984 and 1988 were approached. Of the 66 families, 23 young females in families affected by Duchenne muscular dystrophy (DMD), 23 young females in families affected by hemophilia A (HA), and their mothers participated in our study. We used a questionnaire including multiple-choice and open-ended questions. Results. Of the young female participants tested in the families affected by DMD or HA, 65% knew their test results. Only 65% of DMD mothers and 78% of HA mothers remembered correctly the test results of their daughters. The majority (83%) of the young females tested sought no genetic counseling when reaching adulthood. The reason for this was not determined. Most (78%) reported that the test result had not influenced their lives, whereas some felt relieved to know they had not been carriers. Talking about hereditary disease in the family and between friends was open, and results of the carrier 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 childhood had caused serious harm to the young individuals tested. On the other hand, we found no obvious benefits from this early testing.