Parental attitudes regarding carrier testing in children at risk for fragile X syndrome

Abstract

Sixty-five parents of individuals affected by fragile X syndrome who attended the National Fragile X Conference in Portland, Oregon (1996), were asked to complete a survey assessing parental level of concern about carrier testing in children at risk for fragile X syndrome. All subjects completed a 15-item paper and pencil Likert response scale measure that was developed specifically for this study. The items included parental rights and duties, psychological adjustment, adaptation, discrimination, harm, childbearing, and interpersonal relationships. The major concern of the parents was that their children have knowledge of their carrier status prior to becoming sexually active and that their children be able to marry informed of their genetic risk. Mothers were significantly more concerned than fathers about raising their children with the knowledge of their carrier status. A sense of parental right to make the decision regarding carrier testing for children was associated with concerns about (1) behavioral or educational problems, (2) knowledge of carrier status prior to sexual activity or marriage, and (3) adjustment of the children to knowledge of their carrier status. As the sample was drawn from a unique population of parents, the results of this survey should be interpreted with caution. The findings of this study suggest a model of parents providing anticipatory guidance for their children to help them adjust to carrier information and for their children to have this knowledge prior to the possibility of reproduction.

Carrier testing in children: exploration of genetic health professionals’ practices in Australia

“…[1][2][3][4]10,30 The finding that some parents persist with requests and receive testing is important because previous studies have not distinguished between carrier testing driven by parental requests and medical recommendations. 22,31,32 This study identified surprising differences in the reported frequency of parental requests for carrier testing in their children. The interview process uncovered variation in what counts as a request for testing, with one interpretation being that a simple expression of interest constitutes a request and another being that only a more formal and specific request for carrier testing does so.…”

Adolescents at Risk for MODY3 Diabetes Prefer Genetic Testing Before Adulthood

“…1). Previously, the decision about genetic testing of minors has been made by the parents (12,13). Since 1992 in Finland, the child has a right to participate in the decisionmaking at as early an age as possible, and the opinion of children aged Ն12 years must be heard (14).…”

Parents’ experiences with requesting carrier testing for their unaffected children

“…20 Although there has been some exploration of parents' perspectives on receiving carrier results as an incidental finding from newborn screening, [21][22][23] few studies have explored parents' perspectives on carrier testing for their other children following the diagnosis of an affected child. 1,[17][18][19] Although existing studies provide further evidence that some unaffected siblings receive carrier testing, little research has explored parents' experiences with the request-to-test process, the impact of knowing a child's carrier status, and whether parents communicate carrier information to their children.…”

“…9,12 In some cases, carrier testing is carried out for the sibling of an affected child despite the recommendations. 1,[13][14][15][16][17][18][19] Studies reporting carrier-testing practices of health professionals indicate that genetic health professionals are willing to facilitate carrier testing for autosomal recessive and X-linked conditions in unaffected children to varying degrees. [13][14][15][16]20 For example, in an interview-based study of 17 key informant genetic health professionals in Australia, we found that all our participants initially recommended against carrier testing in children following parental requests, with some preemptively discussing it as a test they generally do not perform.…”