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 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 thr...

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Bibliographic Details
Published in:Journal of medical genetics 1999-08, Vol.36 (8), p.615-620
Main Authors: Järvinen, Outi, Aalto, Anna-Mari, Lehesjoki, Anna-Elina, Lindlöf, Mikael, Söderling, Ismo, Uutela, Antti, Kääriäinen, Helena
Format: Article
Language:English
Subjects:
Adolescent
Age
Anxiety
Biological and medical sciences
carrier testing in childhood
Child
Child development
Child, Preschool
Children & youth
Data Interpretation, Statistical
Disease
Families & family life
Female
Females
General aspects. Genetic counseling
Genetic disorders
Genetic Linkage
Genetic Testing - psychology
health related quality of life
Hemophilia
Hemophilia A - genetics
Hemophilia A - psychology
Humans
Interview, Psychological
Male
Medical genetics
Medical sciences
Muscular Dystrophies - genetics
Muscular Dystrophies - psychology
Muscular dystrophy
Mutation
Original
Population
psychosocial consequences
Quality of Life
Questionnaires
RAND
Stress, Psychological
Studies
X Chromosome
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Summary: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
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.36.8.615