title: A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.
abstract: Genetic carrier testing of children is usually not recommended. However, there are no data concerning long-term psychological consequences, experience, and satisfaction of those tested as well as their recall of the test results. We evaluated these items retrospectively 10-24 years after carrier testing performed in childhood. Study material comprised 25 families with aspatylglucosaminuria (AGU), an autosomal recessive disorder, with 35 healthy sibs from all parts of Finland tested for carriership during childhood between 1973 and 1987. Of these sibs, 25 participated in our study. The questionnaire comprised multiple-choice and open-ended questions. The psychosocial well-being of the study subjects measured by the RAND 36 item Health Survey 1.0 (RAND) was, in general, at least as good as that of controls, and showed no significant differences between carriers and non-carriers (p > 0.154). All tested individuals were satisfied with the fact that they had been tested and stated that the decision to perform carrier testing on a child can be made by the parents. Of the 25 tested, 23 knew and understood their test result correctly at the time of our study. Most of the tested individuals (60%) stated that the best time for carrier testing would be in the childhood or in the teen years. This study indicates that carrier testing in childhood for an autosomal recessive disorder (AGU) had caused no measurable disturbance of quality of life in adulthood, and those tested reported being satisfied. However, we do not recommend testing in childhood, as the result is not needed prior to the time for reproductive decisions.
authors.affiliation: Department of Medical Genetics, The Family Federation of Finland, Helsinki. outi.jarvinen@vaestoliitto.fi
authors.forename: O
authors.initials: O
authors.lastname: Järvinen
authors.forename: M
authors.initials: M
authors.lastname: Hietala
authors.forename: A M
authors.initials: AM
authors.lastname: Aalto
authors.forename: M
authors.initials: M
authors.lastname: Arvio
authors.forename: A
authors.initials: A
authors.lastname: Uutela
authors.forename: P
authors.initials: P
authors.lastname: Aula
authors.forename: H
authors.initials: H
authors.lastname: Kääriäinen
mesh_terms: D000293:Adolescent; D001216:Asparagine / Q000378:metabolism; D054880:Aspartylglucosaminuria; D002648:Child; D002675:Child, Preschool; D003710:Demography; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006020:Glycopeptides / Q000378:metabolism; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000523:psychology*; D008297:Male; D012189:Retrospective Studies; D012962:Sociology, Medical
chemical_list: D006020:Glycopeptides; C007872:glycoasparagines; D001216:Asparagine