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
a The Family
Federation of Finland, Department of Medical Genetics, PO Box 849, FIN-00101 Helsinki, Finland, b STAKES, Health Services
Research Unit, Helsinki, Finland, c Department of Medical Genetics, University of
Helsinki, Helsinki, Finland, d Folkhälsan
Institute of Genetics, Helsinki, Finland, e Helsinki University Central Hospital,
HD-Laboratories, Division of Medical Genetics, Helsinki, Finland, f The Population Research
Institute, Helsinki, Finland, g National Public Health Institute Finland,
Helsinki, Finland
Correspondence to: Dr Järvinen.
Received 27 August 1998;
Revised version accepted for publication 22 March 1999
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.
Keywords: carrier testing in childhood; health related quality of life; psychosocial consequences; RAND
© 1999 by J Med Genet
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[Full Text] -
Järvinen, O., Lehesjoki, A.-E., Lindlöf, M., Uutela, A., Kääriäinen, H.
(2000). 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. Pediatrics
106: 1460-1465
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