Browsing by Author "Delk, Paula"

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    A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal
    (Wiley, 2021-05-06) Selby, Susan Cordes; Iwata-Otsubo, Aiko; Delk, Paula; Nebesio, Todd D.; Gohil, Anisha; Matlock, Peggy; Torres-Martinez, Wilfredo; Vance, Gail H.; Medical and Molecular Genetics, School of Medicine
    Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.
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    Positive and Negative Professionalism Experiences of Genetic Counseling Students in the United States and Canada
    (Wiley, 2021) Aamodt, Pauline; Wetherill, Leah; Delk, Paula; Torres-Martinez, Wilfredo; Vance, Gail H.; Wesson, Melissa; Medical and Molecular Genetics, School of Medicine
    Many aspects of genetic counseling training programs have been examined over the years. However, no study has explored professional or unprofessional behaviors genetic counseling graduate students experience during their training, and how these behaviors influence satisfaction with their training. This exploratory study examined students' experiences with program leaders, instructors, supervisors, and other trainees. Specific experiences included actions of favoritism, bias, negativity, abuse of power, and examples of positive role modeling. A survey was sent to all members of the National Society of Genetic Counselors and program directors in order to reach graduates of Accreditation Council for Genetic Counseling (ACGC)-accredited programs from 2015-2019 who were eligible to participate. Responses to questions relating to demographics, satisfaction with graduate education, behaviors experienced or seen during graduate school, and reporting of inappropriate behaviors were collected and analyzed. Results demonstrated that 95% of the genetic counseling graduates were highly satisfied with their graduate education and those who experienced inappropriate behaviors during their training were somewhat less satisfied (p = .04). Individuals who felt more prepared by their graduate education were more satisfied with their graduate education (p < .01). Being publicly embarrassed or humiliated, being made to feel like a burden in clinic, or being subjected to negative or offensive behavior based on their personal beliefs or personal characteristics (excluding areas of gender, race/ethnicity, or sexual orientation) were all negatively associated with satisfaction (all p < .04). We conclude that this survey could serve as a "Genetic Counseling Training Experiences Assessment" which could be incorporated into annual evaluations required by the ACGC. Implementation of this assessment would enhance the current evaluations of genetic counseling training programs and provide important information regarding student experiences during their training.
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    Readiness for Parkinson’s disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic
    (Springer Nature, 2023-08-29) Hackl, Margaret; Cook, Lola; Wetherill, Leah; Walsh, Laurence E.; Delk, Paula; De León, Rebeca; Carbonell, Janfreisy; Cruz Vicioso, Rossy; Delgado Hodges, Priscila; Medical and Molecular Genetics, School of Medicine
    Genetic testing for Parkinson’s disease (PD) is increasing globally, and genetic counseling is an important service that provides information and promotes understanding about PD genetics and genetic testing. PD research studies have initiated outreach to underrepresented regions in North America, including regions in Latin America, such as the Dominican Republic (DR); some studies may include return of genetic test results. Thus, understanding what individuals know about PD, genetic testing for PD, and their interest in speaking with a genetic counselor, is crucial when assessing readiness. In this cross-sectional study, a survey was distributed to people with Parkinson’s disease (PwP) and their unaffected biological relatives in the DR. Questions assessed genetics knowledge, attitude toward genetic testing, and interest in genetic testing and counseling. Of 45 participants, 69% scored the maximum on the attitude scale, indicating an overall positive attitude toward genetic testing; 95% indicated interest in genetic testing for PD, and 98% were at least somewhat interested in meeting with a genetic counselor. The mean PD genetics knowledge score was similar to previously published data. Through free text responses, participants expressed a desire to know more about PD treatment and management, prevention, cause, and their personal risk for PD. These results provide further evidence of readiness for genetic testing in this country but also underscore some gaps in knowledge that should be addressed with targeted educational efforts, as part of building genetic testing and counseling capacities.