Five student theses were completed. Two are described below. Four of the thesis studies will be presented at the The National Society of Genetic Counselors' conference in Columbus, Ohio September 2017 and be submitted for publication. Devon Bonner: Understanding how clients make meaning of their variants of uncertain significance in the age of multi-gene panel testing for cancer susceptibility Many clients who undergo testing for genetic cancer risk assessment (GCRA) receive variant of uncertain significance (VUS) result(s) whose association with disease risk is unknown and therefore have little clinical utility. Clients cognitive and affective perceptions (i.e. their interpretations) of uncertain genetic information often deviate from their memory of the information communicated by their genetic health care provider (GHP) (i.e. their recollections). This study aims to describe clients perceptions of uncertainties related to their VUS result and differences between clients recollections and interpretations of genetic risk information. Participants were recruited through research registries at NCI-designated comprehensive cancer centers and included men and women who have had genetic testing that identified one or more VUS result(s) in a cancer susceptibility gene. Participants completed a one-time, online survey of quantitative scales measuring their perceived uncertainties about their genetic test result and their recollections, thoughts, and feelings about (1) the pathogenicity of their variant result; (2) the clients risk for developing cancer in the future and (3) the likelihood that cancer is hereditable in the clients family. Summary statistics, t-tests, and bivariate analysis were used to describe clients perceptions of uncertainty and their relationship to the outcomes of interest. Among the 68 participants, the majority were female (93%), Caucasian (97%), married (71%), and college educated (59%). Most participants (82%) had multi-gene panel testing that identified one VUS (85%) on average 1.7 years 2.1 prior to study enrollment. Overall, participants reported high perceptions of certainty about their genetic test result with a mean of 3.97 0.81 out of 5 and a median of 4.06. Although thirty-six participants (60%) recalled that their GHP had communicated a VUS result, only 30 (50%) of participants felt their variant was of uncertain significance. Furthermore, many participants thought (35%) and felt (43%) differently about their variants pathogenicity than their recollection. Compared to what they recalled their GHP communicating, participants perceived significantly higher cancer risks and hereditary likelihoods (p<0.01). Moreover, the majority of participants (>73.3%) reported that their genetic test result had influenced their perceptions about their risk to develop cancer in the future and the likelihood of cancer heritability in their family.Our results suggest that among a clinical sample of individuals with a VUS result(s), most perceive a relatively high level of certainty about practical aspects of their result. Moreover, many clients consciously think and feel differently about their genetic risk information than their memory of what was communicated by their GHP. This tendency towards over-interpretation may be in part related to receiving a VUS result as most participants attribute their genetic test result as influencing their risk perceptions. Celeste D'Amanda: Parental Decision Making For Fragile X Syndrome Clinical Trials There is a paucity of research evaluating parental proxy decision making for pediatric clinical trial participation. Fragile X Syndrome (FXS) is a rare genetic condition involving intellectual disability as its main symptom. Clinical trials have been offered and are under development. As intellectual disability directly affects an individuals personality, perceptions about trial participation and the potential for a disease-modifying therapy is likely different from the perceptions of parents raising a child with a physical disability or illness.
The aim i s to improve understanding of parental proxy decision making for clinical trial participation of children with intellectual disability. Interviews were conducted with parents from two groups: those who chose to 1) enroll their child with FXS in a trial; and 2) decline trial participation for their child with FXS. Parents were recruited through support groups. Interviews were transcribed and coded using thematic analysis. The most prevalent contextual decisional factor was attitudes about FXS medications. The most frequent trial-specific decisional factors were parental perceptions of the mechanism of the experimental drug, barriers and risks, and the match between parentally perceived purpose of the trial and their childs specific symptomatology. Parents decision making processes involved weighing the risks and benefits of participation. Many parents reported making trial decisions primarily alone or with the support of their partner. All parents reported low decisional regret, though decisional conflict was found to range from low to high. The most prevalent, primary decisional factors synthesized by parents within their decision-making process were their strongly negative or positive attitudes towards medicating their childs FXS symptoms, excessive travel to trial site and high number of required appointments, and perceived risk of physical side effects. Potential for direct individual benefit from participation most directly shaped parents trial expectations and hopes, providing ultimate motivation for participation and resulting in high therapeutic optimism amongst parents who elected trial participation. Our results offer insight into potential targets of downstream research evaluating interventions to facilitate these decisions and reduce undesirable decisional outcomes.
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