Life Sciences Commons^™

Utilization And Perceived Value Of Genetic Counselors Within U.S. Hemophilia Treatment Centers, Caylynn Carls

Human Genetics Theses

Rapid advancement of molecular genetics has transformed the diagnosis, treatment, and management of individuals with hereditary bleeding disorders. To provide effective, up-to-date genetic counseling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required. This study assessed the provision of genetic counseling services, the involvement of genetic counselors (GCs), and the perceived value of GCs within hemophilia treatment centers (HTCs) in the United States. A survey was emailed to 396 HTC providers. 115 responses were received, representing 68 of 149 U.S. HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement. Although …

Relationship Between Outcomes Of Psychiatric Genetic Counseling And Time Since Onset And Diagnosis Of Psychiatric Illness, Sarah Saxton

Human Genetics Theses

Research shows that psychiatric genetic counseling (pGC) improves outcomes for patients. We conducted a retrospective chart review study to examine the relationship between outcomes of pGC and time since onset and/or diagnosis of psychiatric illness at a specialist pGC clinic. Specifically, we examined change in empowerment scores (as measured by the Genetic Counseling Outcome Scale (GCOS) prior to (T1) and approximately one month after the pGC appointment (T2)), in relationship to: a) time since symptom onset (TSO) and b) time since psychiatric diagnosis (TSD). Linear regression was used to determine the relationship between TSO and/or TSD and GCOS change, and …

Investigating Barriers Experienced By Underrepresented Minorities In Becoming A Competitive Genetic Counseling Applicant, Katie Huang

Dissertations & Theses (Open Access)

Representation for both racial/ethnic and gender identity minorities in genetic counseling (GC) remains the lowest among similar healthcare professions. Barriers that underrepresented minority (URM) individuals face in becoming a competitive GC applicant have not yet been described. Academic capital (AC) is a theoretical framework describing the social processes necessary for individuals to navigate and succeed in higher education. This study aimed to characterize barriers experienced by applicants who self-identify as underrepresented and to explore how AC could identify areas for intervention. Prospective GC applicants for the 2021/2022 cycles were recruited to complete an anonymous online survey in Qualtrics through a …

Evaluating Insurance Approval Rates Of Exome Sequencing And Its Effect On Minority Patients' Access To Genetic Care, Katlyn Frane

Dissertations & Theses (Open Access)

Exome sequencing (ES) is often a standard step in the genetic testing process for patients with rare or complex disease. Despite clinical implementation of ES, insurance companies (payers) continue to deny this test. We investigated if the payer barrier is influenced by payer type, and if other demographic or clinical information correlated to ES approval and obtainment. To do this, a retrospective chart and clinical database review was completed on patients seen at a tertiary care center and community-based clinic. Patient demographics, clinical indications, and testing recommendations and outcomes were used to assess ES approval and obtainment. We found that …

Previvor And High-Risk Breast Cancer Patients’ Opinions On A Specialized Management Clinic, Madeleine Nicole Tjoelker

Theses and Dissertations

Approximately 5-10% of cancers are thought to be hereditary, caused by pathogenic variants in genes associated with inherited cancer syndromes. Previvors, individuals who have a higher predisposition to cancer due to genetic or other risk factors, have specific healthcare and psychological needs that may be better served by a specialized management clinic. This study compared the experiences of previvors who had access to a specialized management clinic with those who did not, in order to better understand the unique needs of previvors. This study utilized a mixed methods design including an online survey (N=26) and semi-structured phone interview …

Assessing The Anticipated Needs Of Transgender Patients In Cancer Genetic Counseling, Jacqueline Baquet

Theses and Dissertations

Most cancers are sporadic, but 5-10% of all cancer is hereditary, or caused by a heritable genetic mutation. A patient’s medical history, family history, genetic test results, intact organs (e.g., ovaries) at an increased risk for developing cancer, and the availability and accessibility of interventions are used to make recommendations for cancer-risk management. In addition to basic medical care, transgender patients have healthcare needs that differ from those of cisgender patients such as expert care related to using hormones or having gender-affirming surgery, as well as unique mental health concerns. Transgender individuals may also experience a greater number of barriers …

Novel Educational Material For Patients With A Variant Of Uncertain Significance (Vus) In A Cancer Risk Gene, Meghan E. Kelley

USF Tampa Graduate Theses and Dissertations

The number of individuals being tested for hereditary cancer syndromes has greatly increased in the last several years and many people receive Variants of Uncertain Significance (VUS) as a test result. Although VUS results should not guide medical management, patients and even some healthcare providers continue to use a VUS to alter or receive unnecessary medical care.

We conducted a needs assessment via literature review and analyzed VUS patient interviews from a previous study with the goal of identifying various themes that could help determine content, layout, and messaging to incorporate into online educational materials. The needs assessment found few …

Evaluation Of A Spanish-Language Educational Tool For Inherited Cancer, Stefania Alastre

USF Tampa Graduate Theses and Dissertations

A web-based educational tool designed to cover pre-test genetic counseling elements for multi-gene hereditary cancer panel testing increased knowledge and decisional empowerment among an English-speaking cohort actively seeking information about genetic testing. The purpose of this study was to pilot a Spanish-language version of this tool using a pre- post- survey design to assess for changes in knowledge and informed decision making about genetic testing and obtain additional feedback using semi-structured interviews. Spanish-speaking individuals were recruited online. Although several participants expressed that the tool was informative, interesting, and that they liked it, time stamps for the post-survey suggested that most …