Life Sciences Commons^™

Cellular Localization Of Rad51d Mutant Proteins And The Application Of Art To Increase Scientific Literacy In America, Claire L. Chabot

Senior Theses

Ovarian cancers are the leading cause of death from cancer of the female reproductive system. Approximately 50% of ovarian cancers have defects in the homologous recombination (HR) DNA repair pathway that is required for the repair of DNA double-stranded breaks. The status of HR genes, such as BRCA1, BRCA2, and the RAD51 family, contributes to ovarian cancer development as well as treatment decisions regarding chemotherapy, radiation, and immunotherapy. The overarching goal of this project is to identify new insights into HR that can integrate with Precision Medicine Initiatives and align with the goals of the Cancer Moonshot 2020 Program. I …

Evaluating The Social Informational Needs Of Emerging Adults With Genetic Conditions, Courtney Whitmore

Theses and Dissertations

Purpose: This study evaluated the healthcare provider’s role during the social development of emerging adults with a genetic condition. The study also identified the type of information and ways that these adolescents hope to receive information on the potential side effects or complications from engaging in risk taking behaviors and lifestyle choices.

Methods: Participants included both males and females aged 18-26 with achondroplasia, sickle cell disease, cystic fibrosis, or Marfan syndrome. Respondents were recruited to complete an anonymous online questionnaire via social media support groups or email notification.

Results: There were 103 total respondents that completed the questionnaire and met …

Reproductive-Aged Adults Diagnosed With Tuberous Sclerosis Complex (Tsc): Understanding Of Clinical Variability, Perceived Disease Burden, And Reproductive Decision-Making, Diane L. Biederman

Theses and Dissertations

Tuberous Sclerosis Complex (TSC) is a highly variable autosomal dominant multisystem disorder characterized by the growth of benign tumors, epilepsy, and TSC- associated neuropsychiatric disorders (TAND). There is a high level of clinical variability, even within the same family. While reproductive decisions always carry a level of uncertainty, individuals with highly variable genetic conditions like TSC must consider both the chance of passing on the condition and the uncertain clinical presentation. There is currently no literature on factors influencing reproductive decisions of adults with TSC. To address this gap in understanding, we conducted an exploratory mixed-methods survey utilizing an anonymous …

The Perspectives Of Emerging Adults With Hereditary Diffuse Gastric Cancer, Carrie Anderson

Theses and Dissertations

Individuals with hereditary diffuse gastric cancer (HDGC) caused by a CDH1 mutation have a high lifetime risk of developing gastric cancer. National guidelines recommend CDH1 carriers undergo a prophylactic total gastrectomy (PTG)— a surgery that greatly reduces the risk of developing gastric cancer but has significant comorbidities. This study explores the impact of a diagnosis of HDGC in the transitional life stage between the ages of 18-29 deemed “emerging adulthood.” We surveyed 21 CDH1 carriers and conducted semi-structured phone interviews with 6 CDH1 carriers between the ages of 18-29 to learn about their life experiences regarding education, career, relationships, and …

Exploring Patient Perceptions And Misconceptions: Beliefs Regarding Hereditary Cancer, Margaret Flach

Theses and Dissertations

Many patients who enter a genetic counseling session have preconceived notions about why they or their family members developed a genetic condition. Often these perceptions are deeply rooted in personal, familial, and/ or cultural beliefs; individuals typically have a personal framework, or schema, into which they incorporate new information. There is limited research on what information patients are retaining during a genetic counseling session and how they are assimilating that knowledge into their existing views. We attempted to characterize these patient perceptions with respect to hereditary cancer, in order to assess how patients are adopting the information presented in a …

Impact Of Service Delivery Model On Patient Perceptions And Utility Of Genetic Counseling For Hereditary Breast And Ovarian Cancer: An Exploration Of Group Genetic Counseling, Alyssa M. Gates

Theses and Dissertations

Patients at risk for hereditary breast and ovarian cancer (HBOC) traditionally participate in individual cancer genetic counseling sessions to be educated about cancer genetics concepts, their personal cancer risks and genetic testing. With expanding technology and increased public awareness of HBOC, referrals to cancer genetic counseling services have grown. The current number of practicing genetic counselors struggles to meet the demands of increased referrals, so new service delivery models need to be explored. The purpose of this study is to assess the utility of group genetic counseling for HBOC by evaluating the perspectives of patients that received group genetic counseling …

Brca1 And Brca2 Mutation Carrier Perspectives On Direct-To- Consumer Genetic Testing For Brca Mutations, Caitlyn E. Mitchell

Theses and Dissertations

Recently the FDA authorized one direct-to-consumer genetic testing (DTC-GT) company to begin reporting certain genetic variants in the BRCA1 and BRCA2 genes. Pathogenic variants in these genes confer lifetime risks for breast and ovarian cancer in women as high as 87% and 62%, respectively. Historically, genetic testing for these mutations has been offered in a clinical setting where genetic counseling is part of the testing process. Genetic counseling is not routinely a part of DTC-GT, raising concern that those undergoing DTC-GT for BRCA1/2 mutations may not fully understand what is being tested, the implications of results, or that they may …

Amish Perspectives Of The Genetic Counseling Process, Brianna Teapole

Theses and Dissertations

The Amish are a population with a high concentration of genetic disorders who have informed our understanding of several genetic conditions. This culturally unique group has special need for genetic services. While clinics have been established to care for Amish individuals, such as the Community Health Clinic in Indiana, little research has been done on Amish perspectives of these services, specifically genetic counseling. Amish individuals who received genetic counseling from the Community Health Clinic were sent recruitment letters and a questionnaire via mail. The questionnaire consisted of demographic questions, a 7-item adapted Genetic Counseling Satisfaction Scale (GCSS), and open-response questions. …