RT Journal Article
SR Electronic
T1 Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 615
OP 620
DO 10.1136/jmg.36.8.615
VO 36
IS 8
A1 Järvinen, Outi
A1 Aalto, Anna-Mari
A1 Lehesjoki, Anna-Elina
A1 Lindlöf, Mikael
A1 Söderling, Ismo
A1 Uutela, Antti
A1 Kääriäinen, Helena
YR 1999
UL http://jmg.bmj.com/content/36/8/615.abstract
AB The question of whether genetic carrier testing should be performed on children has been the subject of much debate. However, one important element has been lacking from this debate. There has been practically no knowledge of how those tested in childhood have experienced carrier testing. Twenty three subjects in families affected by Duchenne muscular dystrophy and 23 in families affected by haemophilia A, all of whom had been tested during childhood for carriership in the Department of Medical Genetics, University of Helsinki, from 1984 to 1988, participated in our study. We investigated long term psychosocial consequences of carrier testing in childhood. A questionnaire relating to sociodemographic background and life situation was used, together with assessment of health related quality of life (HRQOL) using the RAND 36 item Health Survey 1.0 (RAND). RAND results showed that the emotional, social, and physical well being of the young female subjects was not statistically different from those of control female subjects at a similar age. We also found no statistically significant differences in means in any RAND dimension (p<0.146) between carriers, non-carriers, and a group in which carrier status was uncertain. However, two out of seven carriers reported that they were worried and three that they were slightly worried about the test result. Four out of 22 young female subjects in the uncertain group reported being worried and 11 reported being slightly worried.