Genetic Risk Communication: Experiences of Adolescent Girls and Young Women from Families with Fragile X Syndrome

Little is known about how and what genetic risk information parents communicate to their children and even less is known about what children hear and remember. To address this void, we explored how genetic risk information was learned, what information was given and who primarily provided information to adolescent girls and young adult women in families with fragile X syndrome. We explored three levels of risk knowledge: learning that fragile X syndrome was an inherited disorder, that they could be a carrier, and for those who had been tested, actual carrier status. These data were collected as part of a study that also explored adolescent self concept and age preferences about when to inform about genetic risk. Those findings have been presented separately. The purpose of this paper is to present the communication data. Using a multi-group cross-sectional design this study focused on girls ages 14–25 years from families previously diagnosed with fragile X syndrome, 1) who knew they were carriers (n = 20), 2) noncarriers (n = 18), or 3) at-risk to be carriers (n = 15). For all three stages of information the majority of the study participants were informed by a family member. We identified three different communication styles: open, sought information, and indirect. The content of the remembered conversations varied based on the stage of genetic risk information being disclosed as well as the girls’ knowledge of her own carrier status. Girls who had been tested and knew their actual carrier status were more likely to report an open communication pattern than girls who knew only that they were at-risk.