Carrier Testing of Children for Two X-Linked Diseases: A Retrospective Evaluation of Experience and Satisfaction of Subjects and Their Mothers

Abstract

Carrier testing of children for inherited disease that will not affect the health of the children themselves but of their future children is generally regarded as problematic. In this retrospective study, we determined how young women had experienced genetic carrier testing when they were children. The families of 66 young females who had been tested for carriership during childhood between 1984 and 1988, were approached. Of them, 23 young females in families affected by Duchenne muscular dystrophy, and 23 young females in families affected by hemophilia A, and their mothers, participated in our study. We used a questionnaire including multiple-choice and open-ended questions. We recorded general attitudes to testing, satisfaction with testing, degree of trust in test results, making decisions regarding testing, privacy, and opinions about age at testing. Thirty-five out of 46 of the young women tested (76%) were satisfied with carrier testing in childhood. However, the young women in whom the test results had been uncertain were statistically more often unsatisfied with the testing than those who had been found or not found to be carriers (p = 0.002). In each group, the opinions of mothers were parallel to those of their daughters. Seventy-eight percent of daughters regarded carrier testing as a family matter in which parents can make a decision. About half of those tested recalled that they had been allowed to participate in decision-making in a satisfying way. Thirty-nine out of 46 (85%) of the young women tested, and 33/46 (72%) of the mothers, suggested that carrier testing should be performed in childhood or during teenage years.

Effects of genetic risk information on children's psychosocial wellbeing: A systematic review of the literature

“…30,31,37,38,42 Beneficial influences also were observed, including high reported satisfaction among tested children and positive emotional responses among children who tested negative. 30,31,34,36,37,39,42 Implications for future research Although this review suggests that a majority of publications do not indicate a substantial impact of genetic testing on children's psychosocial wellbeing, most position statements recommend against the testing of children. 1,2 This difference is likely because of the serious limitations of the current evidence and a tendency of health care organizations to take a precautionary stance with respect to potential harms, 49 particularly when children are involved.…”

“…36 Finally, retrospective reports indicated that most children were generally content with their overall experience of having undergone carrier testing. High proportions of tested children answered affirmatively when a single item question was used to ask whether they were satisfied with testing (90 -100%), 30,31,34 completely satisfied with testing (76%), 39 either satisfied or very satisfied (91%), 35 would be tested again (85-100%), 34,39 and would recommend testing to a friend (76 -89%). 31,34,39 However, these measures could be subject to social desirability bias or, given the retrospective designs, optimistic recall bias.…”

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

“…16 The second part had questions about satisfaction with the carrier testing and decisionmaking. 22 For the present study, we analyzed answers relating to awareness of the test result and the social and psychological significance of reception of the genetic carrier test result. As only a few fathers replied, and it was obvious that the mothers sometimes had also filled in the questionnaires of the fathers, fathers' replies were not analyzed.…”

Adolescents, Graduated Autonomy, and Genetic Testing

“…Järvinen et al, surveyed young adult women with a family history of Duchenne muscular dystrophy and hemophilia A. They reported that the majority of subjects believed that carrier testing should occur during childhood or teen-age years [13]. …”