Digital Commons Network^™

Needs Assessment For A Web-Based Support Resource For Patients With A Pathogenic Variant In Lmna, Dylan M. Allen

USF Tampa Graduate Theses and Dissertations

Pathogenic variants (PV) in the gene LMNA cause autosomal dominant inherited “laminopathies” that can affect multiple different organs, most specifically the heart. Current resources for LMNA patients are sparse and disjointed, leaving a need for a comprehensive resource catering to the wants and needs of the patients. A needs assessment of LMNA support resources was completed through reviewing published literature and existing support resources and conducting 11 semi-structured interviews with individuals who have a PV in LMNA. The Social Support Theoretical Model and thematic analysis of interview transcripts were used to identify discrepancies between the support that affected individuals receive …

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 …

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 …

Evaluation Of A Story-Telling Approach To Educate Minority Populations About Inherited Cancer, Celestyn B. Angot

USF Tampa Graduate Theses and Dissertations

Utilization of hereditary cancer genetic counseling and testing services is substantially lower among minority populations compared to white populations due, in part, to lower levels of awareness and knowledge. To help improve awareness, we designed a 7-minute video that uses storytelling to translate knowledge of genetic testing and hereditary cancer to individuals who have a personal history or family history of cancer. Consented participants were asked baseline questions about hereditary cancer and genetic testing, reviewed the video, and provided feedback on its content, understandability, and visual appeal during semi-structured interviews. Data were coded and analyzed to identify themes and determine …

Neural And Cardiac Mechanisms In Friedreich's Ataxia With Patient-Derived Ipscs, Mariana Burgos Angulo

USF Tampa Graduate Theses and Dissertations

Friedreich's ataxia (FA) is an autosomal recessive disease caused, in most cases, by a GAA trinucleotide repeat expansion in the first intron of the frataxin (FXN) gene, which results in transcriptional repression of the encoded protein frataxin. FA is a progressive neurodegenerative disorder, but the primary cause of death is hypertrophic cardiomyopathy, which occurs in 60% of the patients. Several functions of frataxin have been proposed, but none of them can fully explain why its deficiency causes the FA phenotypes nor why the most affected cell types are neurons and cardiomyocytes. It is possible that frataxin affects neural and cardiac …

Etiology Of Sterile Intra-Amniotic Inflammation: An Exploratory Study, Zoe M. Taylor

USF Tampa Graduate Theses and Dissertations

Preterm birth is the event of spontaneous birth prior to 37 weeks of gestation. In the United States, 1 in 10 babies are born prematurely. Low gestational age has been linked with increased morbidity and mortality. Preterm birth is multifactorial, where a myriad of contributors have been identified to include inflammation, chorioamnionitis, and inflammatory conditions to include hypertension and diabetes. To further explore the role inflammation plays in low gestational age, a literature review was done using PubMed. Two classes of inflammation quickly emerged: Pathogen born intra-amniotic inflammation and Sterile intra-amniotic inflammation. The latter form of inflammation has no identifiable …

Host-Pathogen Coevolution Between Tasmanian Devils (Sarcophilus Harrisii) And Devil Facial Tumor Disease, Dylan Garret Gallinson

USF Tampa Graduate Theses and Dissertations

Coevolution is a driving force of rapid evolution, yet the complexity of coevolutionary interactions has made it difficult to characterize the genomic basis of traits mediating such relationships. Coevolutionary dynamics are especially important in host-pathogen systems where the host and pathogen must constantly adapt to one another. The Tasmanian devil and its species-specific transmissible cancer, devil facial tumor disease (DFTD), provide the rare opportunity to study host-pathogen coevolution in a complex natural system. Extensive spatiotemporal devil sampling, high linkage disequilibrium in devils, and a large selective pressure imposed by DFTD facilitate a system tractable for study. Here, we characterized devil …

Evaluating And Improving A Novel Toolkit For Implementation And Optimization Of Lynch Syndrome Universal Tumor Screening, Tara M. Wolfinger

USF Tampa Graduate Theses and Dissertations

Individuals with Lynch syndrome (LS) have a hereditary predisposition to colorectal cancer (CRC), endometrial cancer (EC), and several additional cancer types. Universal tumor screening (UTS) is a systematic approach that increases identification of LS so affected individuals can benefit from targeted therapies and risk-reduction strategies to decrease cancer- related morbidity and mortality. Despite the known benefits of UTS, the practice is widely underutilized, likely due to the complexity of implementation and optimization. We developed a novel evidence-based toolkit to help institutions implement and optimize UTS programs. As part of an iterative evaluation process, we obtained feedback on the toolkit through …

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 …

Cell-Free Dna Methylation Signatures In Cancer Detection And Classification, Jinyong Huang

USF Tampa Graduate Theses and Dissertations

Early detection of cancer is believed as one of the best solutions to improve the therapeutic outcomes and overall survival of cancer patients. Analysis of circulating nucleic acids in bodily fluids, referred to as “liquid biopsies”, is rapidly gaining prominence for this purpose. Cell-free DNA (cfDNA) methylation has emerged as a promising biomarker for early cancer detection, tumor type classification, and treatment response monitoring. Currently, most cfDNA methylation profiling technologies are based on bisulfite conversion, while enrichment-based methods such as cfMeDIP-seq are beginning to show potential. To expand the use of enrichment-based methods in cfDNA methylation profiling, here, we report …

Using Artificial Intelligence To Decipher Epigenetic Code Of Drug Resistance In The Deadliest Human Malaria Parasite, Samira Jahangiri

USF Tampa Graduate Theses and Dissertations

Malaria remains one of the immense global public health challenges, with an estimated ~200 million cases worldwide in 2019 despite the remarkable gains in reducing this deadly disease over the past decade. The recent emergence and spread of artemisinin resistance (ART-R) in Plasmodium falciparum will increasingly impede global efforts to control and eliminate malaria. Previous studies have observed broad transcriptional changes and identified several noncoding genetic variants strongly associated with ART-R. The broad transcriptional variations suggest that the malaria parasite uses sophisticated epigenetic regulation to survive under drug pressure. Therefore, evaluating the regulatory effects of noncoding-variants in malaria parasites is …

The Multifaceted Role Of Ccar-1 In The Alternative Splicing And Germline Regulation In Caenorhabditis Elegans, Doreen Ikhuva Lugano

USF Tampa Graduate Theses and Dissertations

The Cell Division Cycle and Apoptosis Regulator (CCAR) family members are an enigmatic family of proteins regulating metabolism, cancer, apoptosis, DNA damage, and stress. Mammals have CCAR family members, CCAR1 and CCAR2/DBC1, which evolved from the founding family member CCAR-1/LST-3 expressed in Caenorhabditis elegans. Several studies have shown the importance of understanding these proteins' function in standard and altered physiological processes. Our studies aim to understand the genome-wide alternative splicing and germline regulation of Caenorhabditis elegans CCAR-1 in normal and heat shock conditions. Recently, mammalian CCAR family member CCAR2/DBC1 regulates the alternative splicing by forming a complex with ZNF326. This …

Analysis Of Post-Traumatic Stress Disorder Gene Expression Profiles In A Prospective, Community-Based Cohort, Jan Dahrendorff

USF Tampa Graduate Theses and Dissertations

Post-traumatic stress disorder (PTSD) is a common and debilitating psychiatric disorder that may occur in individuals exposed to traumatic events such as accidents, interpersonal violence, war, combat-exposures or natural disasters. PTSD is a significant public health issue with a high disease burden associated with substantial health care costs and several comorbidities negatively affecting an individual’s quality of life. The biological underpinnings of the disorder are not well understood. Gene expression studies can shed light into the complex physiology of PTSD. However, to date, studies employing a hypothesis-free approach examining the whole transcriptome are scarce and are limited to assessment of …

Defining Codes Based On The Consolidated Framework For Implementation Research In The Context Of The Implementing Universal Lynch Syndrome Screening, Jasmine A. Burton-Akright

USF Tampa Graduate Theses and Dissertations

Lynch syndrome (LS) is the most common hereditary cause of both colorectal cancer (CRC) and endometrial cancer (EC). Universal tumor screening (UTS) of newly diagnosed EC and CRC patients has been shown to be both an effective and economical approach to identify patients with LS and subsequently reduce future cancer s for patients and their family members. Despite its efficacy, LS UTS has not been consistently adopted across hospital systems and existing programs vary widely in their structure and execution. The Implementing Universal Lynch Syndrome Screening (IMPULSS) study aims to determine the critical factors necessary for successful implementation of LS …

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 …

The Perceived Utility Of Direct-To-Consumer Genetic Testing Marketed For Athletic Ability, Katherine L. Zimmerman

USF Tampa Graduate Theses and Dissertations

Factors that influence the public’s interest in pursuing genetic testing to determine athletic ability are not yet known. The purpose of this study is to compare interest in genetic testing marketed for athletic ability and susceptibility to sports-related injuries among athletes and the general public. Additionally, this study aims to determine if genetic determinism, knowledge and elements of perceived utility influence their overall intention to use the results of such genetic testing. Participants were recruited through social media platforms to complete an online survey measuring their intention to pursue testing under various circumstances, intention to use the results to change …

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 …

Americans’ Familiarity, Interest, And Actions With Direct-To-Consumer Genetic Testing, Riley L. Carroll

USF Tampa Graduate Theses and Dissertations

Background: In 2013, 36% of the U.S. public was aware of Direct-to-Consumer (DTC) genetic tests, but updated studies are needed to identify whether this has changed over time. Objective: The aims are to determine current awareness and utilization of DTC tests and to identify demographic factors that influence testing uptake. Methods: An online panel survey of 543 U.S. adults was conducted using age- and sex-based quotas. Descriptive statistics and binary regression identified factors associated with undergoing DTC testing and linear regression was conducted to identify factors associated with likelihood of using DTC testing for athletic ability to …

Novel Long Non-Coding Rna Cdlinc Promotes Nsclc Progression, Christina J. Moss

USF Tampa Graduate Theses and Dissertations

Non-small cell lung cancer (NSCLC) is the leading cause of cancer death worldwide with a low 5-year survival rate of only around 21%. This low 5-year survival rate is due to two main reasons. First, NSCLC is often diagnosed at the later stages when it has already metastasized. Second, NSCLC is an incredibly diverse, heterogenous disease making it very hard to target the true molecular oncogenic drivers. New targets for personalized therapeutics are needed based on the expression status of each individual lung cancer tumor.

One way of looking for these new therapeutics is to begin by identifying the oncogenotype …

Care: Collecting And Assessing Cancer Family History To Identify At Risk Individuals Educational Intervention For Community Health Workers, Laura Moreno

USF Tampa Graduate Theses and Dissertations

Background: Collection of family health history (FHH) can identify individuals at increased risk and guide disease-specific recommendations for management, early detection, and prevention. Yet, collection of FHH is often low or infrequent despite national initiatives. In the Hispanic/Latino population, community outreach and education professionals (CORE-Ps) have effectively increased cancer prevention and control behaviors; but, limited research has been conducted to assess genetic and family health history knowledge among CORE-Ps. We sought to evaluate an educational program designed to improve cancer FHH and cancer genetics knowledge, self-efficacy and attitudes. Methods: The ARBOLES Program educates bilingual (Spanish-English) CORE-P to increase knowledge about …

Journey Mapping The Minority Student’S Path Toward Genetic Counseling: A Holistic Picture, Tatiana E. Alvarado-Wing

USF Tampa Graduate Theses and Dissertations

Reasons for limited ethnic and racial diversity among genetic counselors in the United States may be elucidated through better understanding the experiences of minority students who are attending genetic counseling graduate programs as well as recent graduates. Semi-structured interviews were conducted with minority participants using Journey Mapping to elicit touchpoints that positively or negatively impact success at varying points on the path to becoming a genetic counselor. Touchpoints with negative impacts include; late awareness of the profession, observing the lack of diversity in the field, the financial burden of the application process, and microaggressions from peers, program leadership, and clinical …

Evaluating Effects Of Cancer Genetic Counseling On Several Brief Patient Impact Measures, Alyson Kneusel

USF Tampa Graduate Theses and Dissertations

Many outcomes for assessing cancer genetic counseling (GC) utility have been proposed, with few studies evaluating multiple, theory-based, brief patient-reported experience and outcome measures simultaneously as part of a single study. We conducted a pilot study in which patients seen for pre-test cancer GC took a survey before and after their GC session to evaluate the session’s impact on multiple patient impact measures and assess the relationship between these measures. Measures based on the self-determination theory (SDT) assessed three basic needs including: 1) perceived autonomy support, 2) relatedness to the provider, and 3) competence to make a decision. SDT posits …

Genetic Testing And The Power Of The Provider: Women’S Experiences With Cancer Genetic Testing, Dana Erin Ketcher

USF Tampa Graduate Theses and Dissertations

Genetic testing has become ubiquitous in contemporary society, from determining ancestry to addressing health concerns. This dissertation focused on a qualitative, feminist approach to understand women’s experiences of genetic testing for hereditary cancer syndromes, as well as their perspectives of risk. A total of 33 participants agreed to a semistructured interview and drawing of their family tree (pedigree). Eleven (40.7%) participants had been diagnosed with breast cancer, and 16 (59.3%) participants with ovarian cancer. Thirty-one (93.9%) participants had genetic testing, and of those, 17 (54.8%) had genetic counseling. Participants voiced several reasons why they wanted to undergo genetic testing or …

Medical Decision Making Among Individuals With A Variant Of Uncertain Significance In A Hereditary Cancer Gene And Those With A Chek2 Pathogenic Variant, Deanna J. Almanza

USF Tampa Graduate Theses and Dissertations

Despite national guidelines, women with a BRCA VUS or CHEK2 pathogenic variant are choosing to have risk-reducing surgeries such as bilateral mastectomies which are not aligned with their level of cancer risk based on genetic test results alone. Semi-structured telephone interviews were conducted with 6 women with a BRCA VUS and 12 with a CHEK2 pathogenic variant exploring the factors influencing their decision-making process when considering medical management options. Patients from a cancer registry agreed to a recorded telephone interview. Coding was performed using the main constructs from the Ottawa Patient Decision Guide including: knowledge, uncertainty, values, and support. Iterative …

A Feasibility Analysis Of A Pilot Study Comparing Prenatal Genetic Service Delivery Outcomes Using The Self-Determination Theory, Lindsey N. Victoria

USF Tampa Graduate Theses and Dissertations

Genetic counselors, along with the National Society of Genetic Counselors, desire evidence-based research and data assessing the value of genetic counseling in genetic service delivery. This pilot study was designed to gather data about genetic counseling outcomes as well as analyze the feasibility of a study looking at new genetic outcome measures in the prenatal setting. Implementation of the methods used for data collection were evaluated by analysis of the appropriateness, acceptability, feasibility, fidelity, and adoption of the research protocol at three sites. We found that there is a hierarchy between implementation outcomes and it may be necessary to satisfy …

Evaluation Of Clinical Practices And Needs About Variants Of Uncertain Significance Results In Inherited Cardiac Arrhythmia And Inherited Cardiomyopathy Genes, Reka D. Muller

USF Tampa Graduate Theses and Dissertations

The increasing numbers of genetic tests in clinical settings have identified many variants of uncertain significance (VUS) in genes associated with inherited cardiac arrhythmias and inherited cardiomyopathies. Evaluation of clinical practices including counseling strategies and medical management recommendations for patients and their families is important to improve patient outcomes and prevent over- or under-treatment that may result in morbidity or fatality. The purpose of this study is to describe provider practices related to VUS results including how they conduct risk assessments and ascertain what information and medical management recommendations they provide to patients with VUS results and the patients’ family …

Comparing Family Sharing Behaviors In Brca Carriers With Palb2 Carriers, Joy E. Kechik

USF Tampa Graduate Theses and Dissertations

Identifying individuals with hereditary cancer predisposition can improve health outcomes for patients and their family members through early cancer detection and prevention strategies. Prior research about family sharing of genetic test results among those with hereditary breast cancer has overwhelmingly been limited to the BRCA1 and BRCA2 genes. The present study sought to compare family sharing behaviors in women with pathogenic BRCA variants to women with pathogenic variants in the more recently identified and characterized PALB2 gene. A total of 18 BRCA carriers and 13 PALB2 carriers were interviewed about family sharing practices using a semi-structured guide based on the …

Myc Distant Enhancers Underlie Ovarian Cancer Susceptibility At The 8q24.21 Locus, Anxhela Gjyshi Gustafson

USF Tampa Graduate Theses and Dissertations

Ovarian cancer is a leading cause of death among women diagnosed with cancer. Mortality rate is high because an overwhelming majority of new cases are diagnosed with late-stage disease when the survival statistics are very poor with an overall 5-year survival rate of less than 40%. Despite the large burden of disease, the etiology of ovarian cancer is not well understood. In addition to linkage studies that have identified highly penetrant cancer susceptibility genes such as BRCA1 and BRCA2, the emergence of Genome Wide Association Studies (GWAS) in the last decade has facilitated the identification of common genetic variants with …

Molecular Response Of Spartina Alterniflora To The Deepwater Horizon Oil Spill, Mariano Alvarez

USF Tampa Graduate Theses and Dissertations

Although the “genome as a blueprint” metaphor has been pervasive in biology, recent advances in molecular biology have revealed a complex network of regulatory machinery that dynamically regulated molecular processes in response to environmental conditions. However, these patterns, as well as the evolutionary processes that underlie them, remain understudied in natural conditions. In 2010, the Deepwater Horizon oil spill released an estimated 4.9 million barrels of oil into the Gulf of Mexico, making landfall on salt marsh habitat dominated by the foundation species Spartina alterniflora. Despite the severe impacts to phenotype and fitness, S. alterniflora proved remarkably resilient in …