Carrier testing of children for two X linked diseases in a family based setting: a retrospective long term psychosocial evaluation
- Outi Järvinena,
- Anna-Mari Aaltob,
- Anna-Elina Lehesjokic,d,
- Mikael Lindlöfe,
- Ismo Söderlingf,
- Antti Uutelag,
- Helena Kääriäinena
- aThe Family Federation of Finland, Department of Medical Genetics, PO Box 849, FIN-00101 Helsinki, Finland, bSTAKES, Health Services Research Unit, Helsinki, Finland, cDepartment of Medical Genetics, University of Helsinki, Helsinki, Finland, dFolkhälsan Institute of Genetics, Helsinki, Finland, eHelsinki University Central Hospital, HD-Laboratories, Division of Medical Genetics, Helsinki, Finland, fThe Population Research Institute, Helsinki, Finland, gNational Public Health Institute Finland, Helsinki, Finland
- Dr Järvinen.
- Received 27 August 1998
- Revised 22 March 1999
Abstract
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.
