When to tell and test for genetic carrier status: Perspectives of adolescents and young adults from fragile X families

Abstract

We report here our findings from adolescent and young adult females (ages 14-25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for 1) learning fragile X is inherited, 2) learning one could be a carrier for fragile X, and 3) offering carrier testing for fragile X. Three groups were enrolled: those who knew they were carriers or noncarriers and those who knew only they were at-risk to be a carrier. Only two of the 53 participants felt that offering carrier testing should be delayed until the age of 18 years. Participants who knew only that they were atrisk to be a carrier provided older optimal ages for offering carrier testing than those who knew their actual carrier status. Participants did not express regret or negative emotions about the timing of the disclosure of genetic risk information regarding their own experiences. Participants' reasoning behind reported ages for informing about genetic risk and offering carrier testing varied depending on what type of information was being disclosed, which carrier status group the participant belonged to, and the preferred age for learning the information. Study findings suggest that decisions regarding the timing to inform about genetic risk and offer testing should be tailored to the individual needs of the child and his/her family.

Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent's Perspective

“…The daughter and her parent were inter-viewed separately. The findings from the daughters have been previously reported McConkie-Rosell et al 2008;Wehbe et al 2009).…”

“…However, it is important to consider that a possible unintentional outcome of this shift in conversation is that daughters who are non-carriers may not have adequate information to feel confident in their own carrier status. This shift in focus back to the affected relatives, with limited explanation about the carrier test result, may explain why some of the daughters who are non-carriers did not believe their carrier test result and wanted to be retested (Wehbe et al 2009). …”

Family Relations in the Genomic Era: Communicating about Intergenerational Transmission of Risk for Disability

“…Knowledge of genetic risk places a special burden on the individual who knows this information, forcing him or her to contemplate whether, how, and to whom this information should be communicated. Three studies focusing on different disorders show that parents vary in their perceptions of the best age to offer carrier testing to children, although the majority agree that it should be done before age 18 (James et al, 2003;McConkie-Rosell et al, 2002;Wehbe, Spiridigliozzi, Heise, Dawson, & McConkie-Rosell, 2009). Three studies focusing on different disorders show that parents vary in their perceptions of the best age to offer carrier testing to children, although the majority agree that it should be done before age 18 (James et al, 2003;McConkie-Rosell et al, 2002;Wehbe, Spiridigliozzi, Heise, Dawson, & McConkie-Rosell, 2009).…”

Adolescents, Graduated Autonomy, and Genetic Testing

“…Participants felt that it was important to learn this information early, often endorsing staging of the information in a developmentally appropriate manner” [12]. …”