MS, University of Cincinnati, 2019, Medicine: Genetic Counseling

Next generation sequencing has further weakened the presumption against genetic testing in minors for carrier status and adult-onset conditions. However, there is limited data from minors' perspectives. We surveyed 163 adolescent-parent dyads at Cincinnati Children's Hospital Medical Center. We assessed the adolescents' and parents' comfort with each other knowing the adolescents' genetic testing results, and attitudes about requiring adolescent assent for parental access to the adolescents' results across multiple scenarios. Most adolescents (range 94-96%) and parents (range 92-94%) were comfortable with each other knowing the adolescents' results. However, more adolescents than parents believed that adolescents' assent should be required for parents to access the results (range 42.3-57.4% vs. 21.5-32.1%, all p-values = .0001). More adolescents and parents believed that assent should be required from 15-17 year old's than 13-14 year old's (range 32.1-57.4% vs 22.1-44.4%, 3 of 4 p-values < .05), but they did not differentiate between result types. In 20.2% of dyads, the adolescent responded that adolescents' assent should be required for both age groups and result types, and the parent responded that it should not. These findings suggest the need for providers to advocate for the importance of adolescents' assent and to be prepared to address potential adolescent-parent disagreement.

Committee: Armand Antommaria M.D. (Committee Chair); Lisa Martin Ph.D. (Committee Member); Melanie Myers Ph.D. (Committee Member); Cynthia Prows R.N. M.S.N. (Committee Member) Subjects: Genetics

MS, University of Cincinnati, 2012, Medicine: Genetic Counseling

Duchenne and Becker muscular dystrophy (DBMD) are progressive and debilitating neuromuscular disorders caused by X-linked recessive mutations in the dystrophin gene. DMD presents in childhood and limits life to the second or third decade. BMD, a relatively milder form, presents in childhood to adulthood. Although improvements in the care of patients with DBMD have enhanced patients' quality and duration of life, there has been no effect on long-term prognosis. Little is known of the psychological morbidity associated with DBMD on families and patients. Birth mothers of children with DBMD, who are themselves carriers of DBMD, may have increased psychological burden. The purpose of this analysis was to describe differences in adaptation and wellbeing between mothers who were carriers and those who were not carriers of DBMD. Data was collected from mothers with biological children with DBMD using a mixed-methods web-based survey. The primary outcome variable, adaptation score, was generated for each participant using the Psychological Adaptation to Illness Scale. Various other scales and investigator-developed questions were also used to measure secondary outcome variables. One hundred twenty-five participants completed the questionnaire and 116 responses were analyzed. Fifty-one (44%) were carriers of a DMD gene mutation, 47 (40%) were not carriers, and 18 (16%) did not know their carrier status. The mean adaptation score was 3.68 (SD=0.9) for carriers and 3.25 (SD=0.9) for non-carriers. Carriers showed better adaptation and higher perceived control than non-carriers (pooled t-test, p=0.02 and p=0.05, respectively). These results were limited by several factors including small sample size, recruitment bias, and increased risk of type 1 error resulting from multiple tests on the data. An open-ended question completed by the carriers revealed various positive and negative effects of being a carrier. In conclusion, carrier status may affect mothers' adaptation to DBMD an (open full item for complete abstract)

Committee: James Collins PhD (Committee Chair); Kathleen Kinnett MSN (Committee Member); Xue Zhang PhD (Committee Member); Martha Walker (Committee Member) Subjects: Genetics