“Family Matters”: A Conceptual Framework for Genetic Testing in Children

Genetic testing in minor children presents a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrated. Because of the difficulty in determining a psychosocial benefit, the discussion about genetic testing of minors ultimately tends to focus on who has the right to make the decision and whose right to autonomy is jeopardized, the parent's or the child's, when there is no identified medical benefit. Historically, a western bioethics paradigm, Principlism, has been used to guide genetic counseling sessions and genetic-testing guidelines for minors. This bioethics paradigm is guided by the principles: respect for autonomy, beneficence, nonmaleficence, and justice. Genetic testing in children, when viewed through a traditional bioethics filter is limited by its focus on the individual because children are not only individuals, they are also integral parts of a larger social context, that of their family. Because this bioethics paradigm places a strong emphasis on individual autonomy, the family's beliefs and values and the parents' concern for their children may be overshadowed by the medical community's attempt to preserve the child's "right" to an autonomous decision about genetic testing. The purpose of this paper is to present a theoretical and ethics-based conceptual framework that may be useful in the development of genetic counseling interventions.     

Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants’ desire “to be a mother” and the importance they placed on this role. Enactment focused on the participants’ views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage). Participants completed the FXS Adolescent Interview and the FX-Visual Analog Scale. Participants’ knowledge of their genetic risk status appears to have influenced both salience and enactment of the parental role, and the effect varied based on carrier status. For many, knowledge of genetic risk appears to have led to reappraisal, redefinition, and re-engagement with the goal of becoming a parent. This process was prominent in those who were carriers and less so in those who were at-risk, and it did not typically occur in those who were non-carriers. Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS.     

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.     

Affective isolation as a coping strategy for persons with low and high amounts of life stress

Previous research has investigated two diverse operational definitions of stress, experimentally induced, short-term stress and long-term, life stress. The purpose of this study was to intersect these two research methodologies and determine the effect of a laboratory-induced stress (failure feedback) on persons with differing levels of life stress. Women with high or low amounts of life stress were given failure feedback, no failure feedback, or a cognitive coping strategy (affective isolation) in addition to failure feedback. Failure feedback increased self-reported anger and anxiety immediately following feedback and also after a follow-up test and decreased expectations about performance for the second test. Affective isolation significantly reduced anger and anxiety but failed to affect expectations. Women with high amounts of life stress reported significantly less anxiety than women with low amounts of life stress in response to failure feedback. These results were interpreted within C. D. Spielberger's (in C. D. Spielberger & R. Diaz-Guerrero (Eds.), Cross-cultural anxiety, New York: Wiley, 1976) cognitive model. It was proposed that differing levels of previous life stress cause people to make varying judgments about the degree of threat in a short-term stressful situation. Persons with high amounts of life stress may not be aroused in response to short-term stress because they perceive the short-term stress as only a “drop in the bucket” compared to the other events which they have experienced.