Life Sciences Commons^™

The Impact Of Culture & Ethnicity On The Counseling Process: Perspectives Of Genetic Counselors From Minority Ethnic Groups, Brittanie Morris

Theses and Dissertations

In the genetic counseling profession, discussions about cross-cultural counseling and cultural competence emphasize the importance of patient culture as well as counselor culture in a counseling session. A culturally competent counselor should be aware of the influence of her own cultural values on interactions with patients and peers (Weil, 2000; & Uhlmann, Schuette, & Yashar, 2011). Focusing specifically on counselors from cultural/ethnic minorities, this mixed-methods study sought to empirically evaluate the influence of a counselor's cultural values and ethnic identity on the genetic counseling process. 162 genetic counselors, 58 of whom self-identified as being from an ethnic minority group, completed …

The Use Of Social Media And The Impact Of Support On The Well-Being Of Adult Cystic Fibrosis Patients, Margaret Anne Faust

Theses and Dissertations

Cystic fibrosis (CF) is the most common, life-limiting autosomal recessive condition disorder of Caucasians. CF is a chronic condition that requires daily treatment of symptoms, the stress of which can have mental health consequences. Due to the potential for cross contamination of bacterial infections, individuals with CF are discouraged from meeting in person and must find other venues to receive support. Social media provides the opportunity for individuals with CF to communicate and provide support. We hypothesized a positive correlation between the patients' health-related quality of life and the amount of time spent on CF-related social media sites. We expected …

I Wish I Had Known This!: Impact Of Age On Life Choices And Testing Satisfaction For Brca1/2 Mutation Carriers Who Underwent Genetic Testing By Age 25, Sarah Elaine King

Theses and Dissertations

Objective: To examine if BRCA1/2 mutation carriers who received their positive genetic test result by age 25 were satisfied with their decision to undergo genetic testing and with the choices made regarding family planning, surveillance, and surgery. Methods: 72 participants recruited via social media completed a survey hosted by SurveyMonkey.com. Sixty-three met study criteria and were asked 40 quantitative and qualitative questions designed to assess family planning, surveillance, and surgery needs of young BRCA carriers, which included a six question Satisfaction with Decision Scale. Results: Regardless of age, participants were very satisfied with the decision to undergo genetic testing. Recommendations …

The Paternal Age Effect: A Preliminary Study Of Current Challenges For Prenatal Genetics Care, Andrew Tyler Gunter

Theses and Dissertations

Advanced paternal age (APA) is related to various genetic conditions, behavioral disorders, and adverse pregnancy outcomes. Since the publication of ACMG's practice guidelines on APA in 2008, much has been learned about the causes of paternal age effect (PAE) mutations and their clinical implications. However, no guidelines exist to refer these high-risk pregnancies to prenatal genetics care, nor are effective screening techniques presently available. As such, many patients are not fully-informed about the risks to their pregnancies due to possible APA effects, and neither are are the men who have fathered these pregnancies.

Our findings support that limited APA principles …

Walking The Edge With Controversial Use Of Preimplantation Genetic Diagnosis (Pgd): Opinions And Attitudes Of Genetic Counselors, Kristen Everton

Theses and Dissertations

Purpose: This study explored opinions and attitudes of genetic counselors regarding three controversial applications of preimplantation genetic diagnosis (PGD): PGD for early-onset Alzheimer, use of embryos that are BRCA positive after PGD revealed no disease-free embryos to be available, and PGD to select against a variant of unknown significance (VUS) for Marfan syndrome. Methods: Genetic counselors were contacted through the National Society of Genetic Counselors (NSGC) electronic mailing list. Inclusion criteria required that a participant was currently practicing as a genetic counselor, was a member of the NSGC, and has counseled patients about PGD. Twenty-nine participants volunteered to participate and …

Phenotypes And Variants In Cases Submitted For X-Linked Intellectual Disability (Xlid) Gene Panel Testing, Michael J. Friez

Theses and Dissertations

Intellectual disability (ID) refers to reduced cognitive function, apparent before the age of 18, that negatively affects a person's learning and adaptive capacity. Approximately 1-3% of the population is affected with ID, males more than females, and most in the mild-to-moderate range. ID creates financial, logistical and psychosocial challenges for affected persons and their families and caregivers. It is estimated that up to 50% of ID has a genetic cause. Molecular genetic diagnosis may help in obtaining services and has important implications for family members, but can be elusive. Genes causing ID are known to be over-represented on the X …

Parents' Dreams For Their Young Adults With Down Syndrome: What Resources Are Needed To Achieve Them?, Julianna Elise Hudnall

Theses and Dissertations

This study sought to identify the goals parents have for their young adult sons and daughters with Down syndrome, the factors that help to achieve those goals, and parents' perceived barriers to successful attainment of those objectives. While many supports are readily available to youths with Down syndrome in primary and secondary school, many of these supports disappear as these individuals transition into adulthood. When combined with the inherent challenges of emerging adulthood, significant gaps in resources become evident for this population. In order to identify areas in need of improvement, this study surveyed parents of post- and peri-transitional young …

Parental Satisfaction And Teacher Perspectives On Inclusive Education Of Students With Asperger Syndrome: An Educational Tool, Hannah Warren

Theses and Dissertations

Purpose: This study aimed to evaluate parental satisfaction and anxiety regarding the high school educational experiences of their child with a previous diagnosis of Asperger syndrome (AS), as well as educators' understanding of the diagnosis and what information they deemed important to know about the student. The goal of this study was to develop an educational tool that would aid in initiating communication between parents of a student with AS, or with a new diagnosis of high-functioning autism (HFA), and their teachers. This would be an additional resource of use to pediatric genetic counselors that frequently see families regarding a …