Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation

The question of whether genetic carrier testing should be performed on chil dren has been the subject of much debate. However, one important element ha s been lacking from this debate. There has been practically no knowledge of how those tested in childhood have experienced carrier testing. Twenty thr ee subjects in families affected by Duchenne muscular dystrophy and 23 in f amilies affected by haemophilia A, all of whom had been tested during child hood for carriership in the Department of Medical Genetics, University of H elsinki, from 1984 to 1988, participated in our study We investigated long term psychosocial consequences of carrier testing in childhood. A questionn aire relating to sociodemographic background and Life situation was used, t ogether with assessment of health related quality of life (HRQOL) using the RAND 36 item Health Survey 1.0 (RAND). RAND results showed that the emotio nal, social, and physical well being of the young female subjects was not s tatistically different from those of control female subjects at a similar a ge. We also found no statistically significant differences in means in any RAND dimension (p<0.146) between carriers, non-carriers, and a group in whi ch carrier status was uncertain. However, two out of seven carriers reporte d that they were worried and three that they were slightly worried about th e test result. Four out of 22 young female subjects in the uncertain group reported being worried and 11 reported being slightly worried.