Genetics and Genomics Commons^™

Evaluating Cancer Rates, Cancer Types, And Variant Hotspots Between Different Races And Ethnicities In Individuals With Li-Fraumeni Syndrome, Hillary Esplen

Dissertations and Theses (Open Access)

Li Fraumeni Syndrome (LFS) is a cancer predisposition syndrome that increases the risk for numerous cancer types in both children and adults. In the general population, incidence rates for various cancer types differ among races and ethnicities. Although a few germline TP53 pathogenic/likely pathogenic (P/LP) variants in those with LFS have been studied and associated with specific populations, such as the South and Southeast Brazil founder variant, p.Arg337His, there still lacks research on the variable expressivity of cancers within the LFS population based on specific variant, race and/or ethnicity. This study aims to describe the specific TP53 germline variants, the …

Impact Of Personal And Family History Of Huntington's Disease On The Decision And Ability To Obtain Life, Long-Term Care, And Disability Insurance, Karli Livingston

Dissertations and Theses (Open Access)

Huntington’s disease (HD) is an inherited, neurodegenerative condition characterized by a clinical triad of motor, cognitive, and psychiatric symptoms. Individuals diagnosed with HD manifest characteristic symptoms of the disease including motor and cognitive changes, and they may or may not have undergone genetic testing to confirm the diagnosis. Individuals at-risk for HD are those who have not yet undergone genetic testing for HD, but have a first- or second- degree relative diagnosed with the disease. Genetic testing for HD is categorized into two forms: predictive and confirmatory. However, many individuals choose not to pursue testing due to a fear of …

The Influence Of Scientific, Genetic, And Health Literacy On Carrier Screening Decision-Making, Brenna D. Albracht

Dissertations and Theses (Open Access)

For those wishing to assess their reproductive risks and make informed decisions in their reproductive planning, carrier screening for autosomal recessive and X-linked conditions, as well as cell-free DNA (cfDNA) screening for aneuploidy, are recommended during pregnancy. Despite similarities in purpose, sample requirements, insurance coverage, and safety, a lower percentage of individuals elect carrier screening than cfDNA screening, suggesting there may be a disconnect in what patients perceive as valuable information for their pregnancy. Previous studies have attempted to explain the factors associated with carrier screening uptake or decline; however, no models have yet accounted for a patient’s literacy level …

"Magic Computer In The Sky" - Participant Perspectives On Control And The Genetic Counseling Admissions Match, Jessica Clark

Dissertations and Theses (Open Access)

Since the 2018 admissions cycle, genetic counseling graduate programs in North America have utilized the Genetic Counseling Admissions Match (GCAM), a Match algorithm to place applicants. While a study prior to implementation found that most students were uninterested in a Match due to concerns of control, there has been no investigation into matched applicants’ experiences since its inception. A mixed-methods study explored the experiences and perceptions of control of genetic counselors and genetic counseling (GC) students who entered a program following the GCAM. An anonymous survey documenting GCAM experience and a validated measure for locus of control (LOC) was disseminated …

Evaluating Triage To Genetic Counseling Using An Online Reproductive Genetics Module, Grace Ra

Dissertations and Theses (Open Access)

The American College of Obstetricians and Gynecologists recommends genetic screening for all pregnant women. As clinical recommendations broaden and demand for prenatal screening increases, obstetric practitioners report time constraints and lack of genetics knowledge as challenges to providing sufficient pretest education. These challenges in offering routine screening are further compounded by the inequities in access to genetic counseling and testing. Thus, alternative education and service delivery models have emerged to meet the demands for prenatal genetics education and help mitigate challenges surrounding access. At UTHealth Houston, an online triage and education module, the Prenatal Genetics Education Program (PGEP), was created …

Barriers In Receiving A Diagnosis Of Sanfilippo Syndrome: Perceptions From Healthcare Providers And Caregivers, Cassidy Lena

Theses and Dissertations

Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting neurological functioning, behavior, and quality of life. Diagnosis is often not made until three to six years of age, but comprehensive and effective symptom management have been reported to optimize patient longevity. The aim of this study was to identify barriers to diagnosis and the corresponding impact on patients. This study surveyed healthcare providers and caregivers of individuals with Sanfilippo syndrome. Both quantitative and qualitative methods were employed to assess provider knowledge and comfortability in managing Sanfilippo syndrome. Additionally, it explored caregiver perspectives on healthcare system navigation, …

Genetics Education Booklets Designed For Individuals With Intellectual Disability: Perspectives From Adults With Intellectual Disability And Genetic Counselors, Audrey Hyun Sook Parrott

Theses and Dissertations

Visual aid tools have been consistently suggested across literature aimed at identifying methods of improving health and genetics services for individuals with intellectual disability (ID). Aids written in plain language are suggested most often. The study intends to gain perspectives from adults with ID (AWID) and genetic counselors (GCs) on Easy Read genetics educational booklets designed for individuals with mild ID. We anticipate that GCs will find the booklets to be useful and accurate, and that AWID will find the booklets to be helpful to their understanding and comprehensible. The AWID were assessed via a self-reported survey, cognitively adapted for …

An Exploratory Study Of Disclosure Of X-Linked Conditions Between Mothers And Daughters, Madge Isabella Stuhlreyer

Theses and Dissertations

Carriers of X-linked conditions, both asymptomatic and symptomatic, face unique challenges regarding their experiences navigating the healthcare system and understanding implications of their carrier status. Studies show that mothers are known to be the main communicators of genetic information within their families, but in families affected with X-linked conditions, communication between mothers and daughters are hindered by factors such as lack of knowledge about the condition and reproductive implications, lack of emotional support, anxiety, and uncertainty about how to initiate these conversations. The purpose of this study was to explore the motivations behind mothers' decisions to initiate conversations with their …

Newborn Screening For X-Linked Adrenoleukodystrophy: Experiences, Perspectives, And Future Directions For Genetic Counseling, Sophia Salvatore

Theses and Dissertations

There is a notable lack of research regarding genetic counseling practices for infants with screen-positive results for X-linked adrenoleukodystrophy (X-ALD) via newborn screening (NBS). The exploratory study aimed to understand the experiences of genetic counselors providing follow-up care for these infants, assess the complexities associated with NBS for X-ALD, identify potential gaps in genetic counseling practices, and describe the subsequent impact on patient care. A mixed-methods approach was utilized, incorporating an initial survey and optional semi-structured interviews with practicing genetic counselors who had seen a minimum of five cases of infants with screen-positive results for X-ALD in the last two …

Utilizing Evisits To Increase Access To Genetic Services For The Hearing Loss Population: A Tailored Service Delivery Model, Ansley Roberts

Theses and Dissertations

Purpose: Patients referred for genetics services have specific barriers decreasing accessibility, such as communication difficulties, long wait times, and misconceptions about the utility of genetic testing. We assessed a new tailored service delivery model used by the Greenwood Genetic Center to evaluate patients referred for hearing loss to determine if this model increases access to genetics services for individuals with hearing loss. Methods: Data points such as wait times, testing plan, and diagnostic yield were compiled from patient medical records. Comparison and analysis of data was completed by visit type, in-person, virtual, and electronic visits (eVisits), between October 2023 – …

The Relationship Between Cardiac Patient Beliefs And Experiences With Insurability And Their Decisions On Whether Or Not To Pursue Genetic Testing, Julia Schoeni

Theses and Dissertations

Since the enactment of the Genetic Information Non-Discrimination Act (GINA) in 2008, genetics providers have been incorporating conversations about GINA in pre-test counseling. There is currently limited evidence of the effects of personal or family histories of cardiomyopathy or aortopathy and associated genetic testing on patients seeking insurance policies not protected by GINA, including life, long term care, and disability insurance. This study aimed to determine whether individuals with a personal or family history of cardiomyopathy or aortopathy are having conversations about future insurability with their healthcare providers and how they perceive their ability to get these insurances when deciding …

Patient Preferences For Ultrasound Soft Sign Disclosure With Prior Negative Cfdna Screening, Disha Patel

Dissertations and Theses (Open Access)

Soft signs are nonstructural fetal anomalies that can be identified by the second-trimester comprehensive ultrasound examination. In isolation, soft signs are insufficient to diagnose chromosome conditions but can adjust an individual's risk for aneuploidy, primarily Down syndrome. In the age of noninvasive cell-free DNA (cfDNA) prenatal screening, which exhibits superior sensitivity and specificity for aneuploidy compared to what can be provided by soft sign risk adjustment, the utility of these soft signs is arguably waning. Thus, this study aimed to establish patient preferences for whether and how soft signs are disclosed in pregnancy to inform recommendations for disclosure. A survey …

Patient Understanding Of Fetal Sex Versus Gender In The Context Of Routine Cell-Free Dna Screening, Mindy Kolodziejski

Dissertations and Theses (Open Access)

Non-invasive prenatal testing (NIPT) is the current standard of care to screen for fetal aneuploidy using cell-free DNA (cfDNA). NIPT screens for sex chromosome aneuploidies (SCAs) and in doing so, can predict fetal chromosomal sex. Despite sex and gender being distinct concepts, many patients refer to NIPT as “the gender test” and elect testing in order to find out predicted fetal sex and assume gender. Our study aimed to evaluate and describe patient understanding of sex and gender in the context of receiving routine prenatal genetics education (PGE) on NIPT. A survey was developed with the goal of assessing patient …

Inclusion Of Adoption As A Pregnancy Management Option In Prenatal Genetic Counseling Practice, Emma Billings

Dissertations and Theses (Open Access)

Prenatal genetic counselors are essential to providing education, psychosocial support, and guidance on pregnancy options to patients who receive a fetal diagnosis of an anomaly or genetic condition. Therefore, genetic counselors should be well-educated on comprehensive pregnancy management options consisting of parenting, abortion, and adoption. The landscape of adoption education in genetic counseling practice was last characterized in 2010 by Perry and Henry, revealing substantial variability in both the inclusion of adoption-specific education in genetic counseling program (GCP) curricula and the discussion of pregnancy options with patients in prenatal practice. As a result, the authors published a call to action …

Impact Of Genetic Counseling On Patient Empowerment After Diagnosis Of Fetal Anomaly, Carley Brueckner

Dissertations and Theses (Open Access)

Approximately 3-5% of pregnancies are affected by fetal anomalies, often leading to structural and functional differences that impact infant health and mortality. When anomalies are identified on prenatal ultrasound, genetic counseling (GC) and genetic testing may be offered to investigate the potential for a possible syndromic cause. Genetic counselors provide education on the chance for a genetic etiology, available testing options, potential changes in medical intervention related to an identified etiology, and psychosocial counseling and resources. Regardless of a patient’s testing decision, genetic counseling should include psychosocial counseling to support and empower patients in a time of prognostic uncertainty and …

Motivations And Attitudes For Pursuing Anonymous Genetic Testing For Huntington’S Disease, Jordan Steffen

Dissertations and Theses (Open Access)

Huntington’s disease (HD) is a progressive neurodegenerative disorder for which predictive and confirmatory testing is available. However, only a small portion of at-risk individuals complete predictive testing. Concerns of privacy and genetic discrimination have been cited as reasons testing is declined. This leads some to seek anonymous testing, a process in which measures are taken to exclude identifying information, thereby preventing results from being linked to legal names, medical records, or health insurance. Previous research suggests anonymous testing is not widely favored amongst healthcare providers, but patient perspectives have not been described. These studies also precede the implementation of the …

Evaluation Of Pediatric Genetics Clinics’ Workflows, Efficiencies, & Genetic Counselor Job Satisfaction, Ashlyn M. Keziah

USF Tampa Graduate Theses and Dissertations

The organizational structures and workflows of pediatric/general genetics clinics exhibit significant variability across institutions. However, there is a notable lack of studies exploring which structural components within pediatric clinics contribute to increased patient volumes, while concurrently upholding genetic counselor work satisfaction and mitigating burnout risks. To address this gap, this multiple case study delves into the operational dynamics of several pediatric genetics clinics located throughout the state of Florida. We employed surveys and interviews to identify shared patterns and distinctions in clinic workflows and structures, subsequently evaluating efficiency and genetic counselor job satisfaction/burnout at each site. This study includes survey …

Prenatal Screening Decision-Making Facilitated Through An Online Patient Education Module, Erin Atkinson

Dissertations and Theses (Open Access)

As recommendations for prenatal genetic screening are expanded to include patients with pregnancies at low risk for aneuploidy, there is a need to develop accessible mechanisms to promote informed decision-making about genetic screening. The use of patient decision aids has been shown to promote informed decision-making. UTHealth Houston has developed and implemented an online module for pre-test triage for genetic counseling and education of low-risk pregnant patients about genetic screening, called the Prenatal Genetic Education Program (PGEP).

Here, through a retrospective chart review, we characterize the use of PGEP to triage previously presumed low-risk patients to genetic counseling, and whether …

Comparing Efficiency, Empowerment, And Satisfaction Between Individual And Group Genetic Counseling For Prostate Cancer, Sarah Marie Dickman

Theses and Dissertations

A hereditary cause for prostate cancer can be identified in 5-17% of cases, which can impact treatment and cancer screening recommendations for patients and their families. Increased demand for genetic testing has necessitated consideration of alternative genetic counseling service delivery models to meet needs. Studies have shown that group genetic counseling increases efficiency while maintaining the same patient benefits as individual genetic counseling, but research has mainly focused on patients who were assigned female at birth (AFAB). The purpose of this study was to evaluate the utility of group genetic counseling for prostate cancer by assessing participants’ satisfaction and feelings …

Healthcare Decision Makers' Perspectives On Barriers And Facilitators To Hiring Genetic Counselors In Huntington Disease (Hd) Clinic Settings, Bailey Hummel

USF Tampa Graduate Theses and Dissertations

Huntington disease (HD) is a hereditary, neurodegenerative autosomal dominant disorder for which there are currently no effective options to prevent the onset of symptoms. Although meeting with a genetic counselor (GC) is recommended as part of national guidelines for predictive HD genetic testing and a GC is required for Centers of Excellence, not all HD centers have hired a GC. To explore drivers for, valued outcomes of, and barriers to the creation of GC positions in clinics that treat patients with HD, we conducted semi-structured interviews with 11 individuals involved with HD clinics and/or hiring decisions at 8 clinics across …

Piloting A Spanish-Language Web-Based Tool For Hereditary Cancer Genetic Testing, Gretter Manso

USF Tampa Graduate Theses and Dissertations

Cancer genetic services (including genetic counseling and testing) help identify patients and families at increased risk of developing cancer so that steps can be taken to reduce risks or find cancers early. Receipt of genetic services in the Hispanic/Latinx population is low due, in part, to a shortage of Spanish-speaking genetic counselors. To address this concern, a 12-minute online tool designed to inform individuals about cancer genetic services was translated into Spanish. The objectives of this pilot study were to determine if the educational tool improves knowledge and informed decision making and to assess usability and appropriateness of the tool …

Using The Genetic Counseling Skills Checklist To Characterize Prenatal Genetic Counseling, David A. Cline

USF Tampa Graduate Theses and Dissertations

Genetic Counseling relies on communication skills to help patients understand and adapt to a genetic disease or risk. However, little is known about which skills are most commonly used or the extent to which genetic counseling sessions vary. A novel process measure titled the "Genetic Counseling Skills Checklist" (GCSC) was developed in a prior pilot study and includes 8 broad categories each consisting of 5-8 skills. This study is the first to apply the final GCSC to characterize 20 mock prenatal sessions conducted by 5 genetic counselors (GCs) for 2 prenatal indications using 3 trained actors as patients. Two experienced …

Experiences Of Racial And Ethnic Minority Patients With Genetic Counseling, Emile Moura Coelho Da Silva

Dissertations and Theses (Open Access)

Racial and ethnic minority patients in the United States undoubtedly suffer from inequalities in healthcare. While some studies have explored these inequalities in the field of genetic counseling specifically, research relating to genetic counseling outcomes in diverse patient populations is still limited. With the number of non-Hispanic White individuals in the United States projected to decrease by 20 million by 2060, it becomes imperative to better understand the experiences of racial and ethnic minority patients to meet their needs. Therefore, this study aimed to further describe the experiences of racial and ethnic minority patients who received genetic counseling services. In …

Invisible Disabilities, Academic Capital And Competitiveness Of Genetic Counseling Applicants, Natalie E. Stoner, Meagan Choates, Carla Mcgruder, Debra Murray, Theresa Wittman, Sara Wofford, Claire N. Singletary

Dissertations and Theses (Open Access)

The field of genetic counseling has historically lacked diversity. Recent research has begun to explore how visible diversity may present barriers to a genetic counseling applicant becoming competitive, but has not yet characterized potential barriers with invisible diversities, such as being a first-generation college student, or a part of the LBGTQ+ community. Therefore, this study aimed to address this gap among those with invisible diversities, as well as explore their academic capital (AC), a theoretical framework used to identify factors that make students more likely to succeed in post-secondary work including supportive networks, trustworthy information, family uplift, college knowledge, overcoming …

Describing The Experiences Of Canadian Genetic Counseling Students Studying In The United States, Madeline Emma Ladouceur

Theses and Dissertations

There are fewer and smaller genetic counseling master’s programs in Canada compared to the United States, which makes it challenging for prospective Canadian students to train in their home country. We investigated which factors influenced Canadian students to apply or not to apply to American genetic counseling training programs, as well as the experiences of those Canadians who attended a program in the United States. We predicted that Canadian students applied to American genetic counseling training programs primarily because of limited training opportunities in Canada and a competitive application process across North America. We used a mixed method, online survey …

Evaluation Of The Perceived Benefit Of A Psychiatric Resource For Parents Of Children With 22q11.2 Deletion Syndrome, Kayla Blankenship

Theses and Dissertations

The objective of this study was to assess the perceived utility of an educational resource booklet addressing the psychiatric manifestations and mental health considerations within 22q11.2 deletion syndrome (22q11.2DS).

Seventy-three parents of children with 22q11.2DS completed online surveys before and after reading the booklet. The surveys assessed personality factors and feelings of empowerment, worry, self-stigma, and ability to tolerate uncertainty.

Participants reported that the booklet was easy to understand, provided better understanding of 22q11.2DS and mental illness, answered questions about mental illness associated with the condition, improved knowledge of strategies for protecting the mental health of children with the condition, …

Examining Parental Disclosure To Unaffected Siblings Of Children Diagnosed With Rett Syndrome, Rachel Nicely

Theses and Dissertations

Rett syndrome is a neurodevelopmental disorder that is inherited in an X-linked dominant manner due to pathogenic variants in the MECP2 gene that are almost always de novo. It is one of the most common causes of developmental delay and intellectual disability in females and occurs in about 1 in 10,000 females. While there is valuable literature surrounding the impact of a neurodevelopmental diagnosis on unaffected siblings, there are no articles about the impact of a disclosure of Rett syndrome to unaffected siblings and the needs of parents during this disclosure. This study aimed to examine the disclosure process …

Inaccuracies In Patient Self-Report Of Genetic Testing Results For Hereditary Cancer Risks Could Impact Risk-Management Practices, Brittany Faye Sears

USF Tampa Graduate Theses and Dissertations

Pathogenic variants (PV) or likely pathogenic variants (LPV) in a cancer risk gene increase lifetime risks of developing cancer. National guidelines provide evidence-based recommendations on cancer risk management (CRM) strategies tailored to the cancer risks associated with PV/LPV in different genes. Emotional responses after learning of a PV/LPV have been studied as predictors of patient adherence to CRM, but less attention has been given to whether patients remember their actual genetic test results and the impact this may have on subsequent adherence to CRM. We surveyed a group of 114 participants registered with the Inherited Cancer Registry (ICARE), all of …

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

Dissertations and 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 …

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

Dissertations and 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 …