Genetics and Genomics Commons^™

Exploring The Potential Pathogenicity Of A Type 2 Diabetes Mellitus Associated Insr Missense Variant Of Uncertain Significance Through Daf-2 In The Caenorhabditis Elegans Model, Brittany White

Theses

Type 2 diabetes mellitus (T2DM) is hallmarked by insulin resistance, with the INSR gene identified as a key player in this condition in humans. This gene is known to harbor genetic variants with a wide range of clinical significance from pathogenic to variants of uncertain significance (VUS) to benign. This project investigates a VUS associated with T2DM identified through ClinVar. A gene mutational analysis, predictive amino acid substitution analysis, and protein modeling predict INSR c.1628C>T (p. Thr543Met) to be likely pathogenic or damaging. PolyPhen-2 predicts this variant to be probably damaging (HumDiv score of 1.000).

Evolutionary conservation of the …

Refining The Rfk-2 Locus Of Sk-3 Using The Dna Interval V373 In Neurospora Crassa, Thera Bowen

Senior Theses – Biological Sciences

Meiotic drive is a non-Mendelian inheritance phenomenon where selfish genetic elements change gene transmission in their own favor. This phenomenon occurs in the fungus Neurospora crassa during spore killing. When a strain carrying a spore killer genetic element is crossed with a non-spore killing wild type strain, the cross will produce half viable and half inviable offspring. The N. crassa Sk-3 spore killer is found on Chromosome III. Sk-3 is one of the most studied meiotic drive elements in Neurospora fungi and it is thought to require a killer gene and a resistance gene for spore killing. While the killer …

Documenting The Southern Range Terminus Of The Wood Frog (Lithobates Sylvaticus) In North America, Christian Braswell

Theses

The Wood Frog (Lithobates sylvaticus) holds a remarkable position in North American amphibian biology, with its range extending from the Arctic Circle down to the near sub-tropical southeastern United States. This thesis presents a novel quantitative polymerase chain reaction analysis (qPCR) primer specific to L. sylvaticus and a survey effort regarding the southernmost distribution and detection of this species in Alabama through the application of environmental DNA (eDNA) sampling techniques. By investigating historical data and employing advanced genetic methodologies, this research provides insights into the contemporary status and distribution of the Wood Frog. This research is important to …

Investigating Sk-3-Based Spore Killing Through Dna Deletion In Neurospora Crassa, Sophie Krivograd

Senior Theses – Biological Sciences

Meiotic drive describes a process in which selfish alleles are recovered in more than half of a progeny generation. It is a type of gene drive and it has been discovered in strains of Neurospora, a filamentous fungus, through its spore killing mechanism. One of the most studied meiotic drive elements within N. crassa is Spore killer-3 (Sk-3). Previous studies have indicated that there is a genomic region within Sk-3 that encodes resistance to spore killing and another that encodes an element that is required for spore killing. Sk-3’s resistance gene, rsk, has been identified. However, …

Investigating The Role Of Dna Interval V377 In Spore Killing By Neurospora Crassa Sk-3, Carolina Okleiteris

Senior Theses – Biological Sciences

Neurospora crassa is a fungus that serves as a model organism for genetic research. N. crassa Spore killer-3 (Sk-3) is a genetic element transmitted to offspring through spore killing. Sk-3 is located on Chromosome III and it is thought to require two genes for spore killing. These two genes are the poison gene, for killing, and the antidote gene, for resistance to killing. While the Sk-3 resistance gene has been identified (rsk), the Sk-3 killer gene has not. The primary goal of this study is to help identify the killer gene by investigating the role of …

Identifying The Location Of The Rfk-2 Spore Killer Gene On Chromosome Iii Of Neurospora Crassa, Princy A. Patel

Senior Theses – Biological Sciences

Meiotic drivers are selfish genetic elements that skew transmission in their favor. In the filamentous fungus N. crassa, one such meiotic driver is Spore killer-3 (Sk-3). In a cross between Sk-3 and a spore killer-sensitive mating partner (Sk-S), only half of the ascospores (sexual spores) survive. Nearly all of the survivors inherit the genes for spore killing. Previous studies have established that a gene called rfk-2 (required for spore killing) is essential for the spore killing activity of Sk-3. The rfk-2 gene has been mapped to Chromosome III, but its exact location …

Deciphering The Functional Connections Between The Nuclear Paraspeckle And Rad51 Homologous Recombination Proteins Using A Yeast Protein Interaction System, Eric J. Nutz

Senior Theses

Homologous recombination (HR) is a repair pathway for DNA double-stranded breaks. Mutations in HR genes contribute to genomic instability and increase the prevalence of cancer. Exploiting HR deficiency in tumor cells has led to improved synthetic lethality outcomes. RAD51 paralogue protein complexes are known to be involved with HR. Proteomic analysis of RAD51 paralogues reveals a connection to the nuclear paraspeckle. A paraspeckle is a little-known, specialized organelle found in the interchromatin space of the nucleus in mammalian cells. Its three central protein components include SFPQ, NONO, and PSPC1. RAD51D is an HR protein shown previously to interact with SFPQ …

A Comparative Study Of A Non-Small Cell Lung Cancer Associated Egfr Missense Variant Of Uncertain Significance, Vanessa Mejia

Theses

Non-small cell lung cancer (NSCLC) is a form of lung cancer that can be driven by heightened activity of epidermal growth factor receptor encoded by the EGFR gene. Genetic variants in EGFR have been identified that lead to abnormal cell growth and tumorigenesis. The objectives of this study was to 1) determine if an EGFR variant of uncertain significance (VUS) associated with NSCLC is potentially damaging based on evaluation of the ortholog let-23 in the model organism, C. elegans, and 2) identify conserved missense VUS loci associated with NSCLC. Through ClinVar, the EGFR VUS c.845G>C(p.Gly282Ala) was identified in …

An Exploration Of The Genetics Of The Mutant Huntingtin (Mhtt) Gene In A Cohort Of Patients With Chorea From Different Ethnic Groups In Sub-Saharan Africa, Mendi J. Muthinja, Carlos Othon Guelngar, Maouly Fall, Fatumah Jama, Huda Aldeen Shuja, Jamila Nambafu, Daniel Gams Massi, Oluwadamilola Ojo, Juzar Hooker, Dilraj Sokhi

Internal Medicine, East Africa

Background: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans.

Objective: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa.

Methods: We evaluated 99 participants: 43 patients with chorea, 21 asymptomatic first-degree relatives of subjects with chorea, and 35 healthy controls for the presence of the mHtt. Participants …

A Multitrait Genetic Study Of Hemostatic Factors And Hemorrhagic Transformation After Stroke Treatment, Cristina Gallego-Fabrega, Gerard Temprano-Sagrera, Jara Cárcel-Márquez, Elena Muiño, Natalia Cullell, Miquel Lledós, Laia Llucià-Carol, Jesús M Martin-Campos, Tomás Sobrino, José Castillo, Mònica Millán, Lucía Muñoz-Narbona, Elena López-Cancio, Marc Ribó, Jose Alvarez-Sabin, Jordi Jiménez-Conde, Jaume Roquer, Silvia Tur, Victor Obach, Juan F Arenillas, Tomas Segura, Gemma Serrano-Heras, Joan Marti-Fabregas, Marimar Freijo-Guerrero, Francisco Moniche, Maria Del Mar Castellanos, Alanna C Morrison, Nicholas L Smith, Paul S De Vries, Israel Fernández-Cadenas, Maria Sabater-Lleal

Faculty, Staff and Student Publications

BACKGROUND: Thrombolytic recombinant tissue plasminogen activator (r-tPA) treatment is the only pharmacologic intervention available in the ischemic stroke acute phase. This treatment is associated with an increased risk of intracerebral hemorrhages, known as hemorrhagic transformations (HTs), which worsen the patient's prognosis.

OBJECTIVES: to investigate the association between genetically determined natural hemostatic factors' levels and increased risk of HT after r-tPA treatment.

METHODS: Using data from genome-wide association studies on the risk of HT after r-tPA treatment and data on 7 hemostatic factors (factor [F]VII, FVIII, von Willebrand factor [VWF], FXI, fibrinogen, plasminogen activator inhibitor-1, and tissue plasminogen activator), we performed …

Genome-Wide Crispr Screen Reveals The Synthetic Lethality Between Bcl2l1 Inhibition And Radiotherapy, Ling Yin, Xiaoding Hu, Guangsheng Pei, Mengfan Tang, You Zhou, Huimin Zhang, Min Huang, Siting Li, Jie Zhang, Citu Citu, Zhongming Zhao, Bisrat G Debeb, Xu Feng, Junjie Chen

Faculty, Staff and Student Publications

Radiation therapy (RT) is one of the most commonly used anticancer therapies. However, the landscape of cellular response to irradiation, especially to a single high-dose irradiation, remains largely unknown. In this study, we performed a whole-genome CRISPR loss-of-function screen and revealed temporal inherent and acquired responses to RT. Specifically, we found that loss of the IL1R1 pathway led to cellular resistance to RT. This is in part because of the involvement of radiation-induced IL1R1-dependent transcriptional regulation, which relies on the NF-κB pathway. Moreover, the mitochondrial anti-apoptotic pathway, particularly the BCL2L1 gene, is crucially important for cell survival after radiation. BCL2L1 …

Case Of Human Orthohantavirus Infection, Michigan, Usa, 2021, Samuel M Goodfellow, Robert A Nofchissey, Dustin Arsnoe, Chunyan Ye, Seonghyeon Lee, Jieun Park, Won-Keun Kim, Kartik Chandran, Shannon L M Whitmer, John D Klena, Jonathan W Dyal, Trevor Shoemaker, Diana Riner, Mary Grace Stobierski, Kimberly Signs, Steven B Bradfute

Faculty, Staff and Student Publications

Orthohantaviruses cause hantavirus cardiopulmonary syndrome; most cases occur in the southwest region of the United States. We discuss a clinical case of orthohantavirus infection in a 65-year-old woman in Michigan and the phylogeographic link of partial viral fragments from the patient and rodents captured near the presumed site of infection.

Cranio-Cervical Abnormalities In Moderate-To-Severe Osteogenesis Imperfecta – Genotypic And Phenotypic Determinants, Juliana Marulanda, Jean-Marc Retrouvey, Brendan Lee, V Reid Sutton, Frank Rauch, Michelle Briner

Faculty, Staff and Students Publications

INTRODUCTION: Cranio-cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes.

OBJECTIVE: To assess cranio-cervical anomalies and associated clinical findings in patients with moderate-to-severe OI using 3D cone beam computed tomography (CBCT) scans.

METHODS: Cross-sectional analysis of CBCT scans in 52 individuals with OI (age 10-37 years; 32 females) and 40 healthy controls (age 10-32 years; 26 females). Individuals with a diagnosis of OI type III (severe, n = 11), type IV (moderate, n = 33) and non-collagen OI (n = 8) were recruited …

Myeloid-Derived Suppressor Cell Mitochondrial Fitness Governs Chemotherapeutic Efficacy In Hematologic Malignancies, Saeed Daneshmandi, Jee Eun Choi, Qi Yan, Cameron R. Macdonald, Manu Pandey, Mounika Goruganthu, Nathan Roberts, Prashant K. Singh, Richard M. Higashi, Andrew N. Lane, Teresa W-M Fan, Jianmin Wang, Philip L. Mccarthy, Elizabeth A. Repasky, Hemn Mohammadpour

Markey Cancer Center Faculty Publications

Myeloid derived suppressor cells (MDSCs) are key regulators of immune responses and correlate with poor outcomes in hematologic malignancies. Here, we identify that MDSC mitochondrial fitness controls the efficacy of doxorubicin chemotherapy in a preclinical lymphoma model. Mechanistically, we show that triggering STAT3 signaling via β2-adrenergic receptor (β2-AR) activation leads to improved MDSC function through metabolic reprogram- ing, marked by sustained mitochondrial respiration and higher ATP generation which reduces AMPK signaling, altering energy metabolism. Furthermore, induced STAT3 signaling in MDSCs enhances glutamine consumption via the TCA cycle. Metabolized glutamine generates itaconate which downregulates mitochondrial reactive oxygen species via regulation of …

Pedigree Analysis Of Congenital Stationary Night Blindness And Surveillance Of Related Problems In The Area Of Depalpur, Okara-Pakistan, Muhammad Abdullah, Muhammad Sajjad Sarwar, Muhammad Rizwan, Muhammad Iqbal Usama, Hamza Zulfiqar, Muhammad Wajid, Saira Ashfaq

Journal of Bioresource Management

Congenital stationary night blindness (CSNB) is described as a set of inherited, non-progressive retinal conditions in which the rod pathway is primarily affected, resulting in difficulty adapting to low-light situations due to impaired photoreceptor transmission. Objectives of study was to identify patients with CSNB and explore their lifestyle and the impact of CSNB on their daily routines in selected areas. Total seven families having CSNB, belonging to five villages (Abadi Haji Ismaeel, Sunari wala, Tibba, Shamdin, and Chorasta Mian Khan) of Depalpur, district Okara, were investigated in March 2023. The CSNB prevalence was calculated as 2.528 % in all selected …

Admix-Kit: An Integrated Toolkit And Pipeline For Genetic Analyses Of Admixed Populations, Kangcheng Hou, Stephanie Gogarten, Joohyun Kim, Xing Hua, Julie-Alexia Dias, Quan Sun, Ying Wang, Taotao Tan, Elizabeth G Atkinson, Alicia Martin, Jonathan Shortt, Jibril Hirbo, Yun Li, Bogdan Pasaniuc, Haoyu Zhang

Faculty, Staff and Students Publications

SUMMARY: Admixed populations, with their unique and diverse genetic backgrounds, are often underrepresented in genetic studies. This oversight not only limits our understanding but also exacerbates existing health disparities. One major barrier has been the lack of efficient tools tailored for the special challenges of genetic studies of admixed populations. Here, we present admix-kit, an integrated toolkit and pipeline for genetic analyses of admixed populations. Admix-kit implements a suite of methods to facilitate genotype and phenotype simulation, association testing, genetic architecture inference, and polygenic scoring in admixed populations.

AVAILABILITY AND IMPLEMENTATION: Admix-kit package is open-source and available at https://github.com/KangchengHou/admix-kit. …

Eurasian Aspen (Populus Tremula L.): Central Europe's Keystone Species 'Hiding In Plain Sight', Antonín Kusbach, Jan Šebesta, Robert Hruban, Pavel Peška, Paul C. Rogers

Aspen Bibliography

Knowledge of Eurasian aspen’s (Populus tremula L.) ecological and growth characteristics is of high importance to plant and wildlife community ecology, and noncommercial forest ecosystem services. This research assessed these characteristics, identified aspen’s habitat optimum, and examined causality of its current scarce distribution in central Europe. We analyzed a robust database of field measurements (4,656,130 stands) for forest management planning over 78,000 km² of the Czech territory. Our analysis we used GIS techniques, with basic and multivariate statistics such as general linear models, ordination, and classification. Results describe a species of broad ecological amplitude that has heretofore attracted …

The Effects Of Genetic And Modifiable Risk Factors On Brain Regions Vulnerable To Ageing And Disease, Jordi Manuello, Joosung Min, Paul Mccarthy, Fidel Alfaro-Almagro, Soojin Lee, Stephen Smith, Lloyd T. Elliott, Anderson M. Winkler, Gwenaëlle Douaud

School of Medicine Publications

We have previously identified a network of higher-order brain regions particularly vulnerable to the ageing process, schizophrenia and Alzheimer’s disease. However, it remains unknown what the genetic influences on this fragile brain network are, and whether it can be altered by the most common modifiable risk factors for dementia. Here, in ~40,000 UK Biobank participants, we first show significant genome-wide associations between this brain network and seven genetic clusters implicated in cardiovascular deaths, schizophrenia, Alzheimer’s and Parkinson’s disease, and with the two antigens of the XG blood group located in the pseudoautosomal region of the sex chromosomes. We further reveal …

Identifying Potential Dietary Treatments For Inherited Metabolic Disorders Using Drosophila Nutrigenomics, Felipe Martelli, Jiayi Lin, Sarah Mele, Wendy Imlach, Oguz Kanca, Christopher K Barlow, Jefferson Paril, Ralf B Schittenhelm, John Christodoulou, Hugo J Bellen, Matthew D W Piper, Travis K Johnson

Faculty, Staff and Students Publications

Inherited metabolic disorders are a group of genetic conditions that can cause severe neurological impairment and child mortality. Uniquely, these disorders respond to dietary treatment; however, this option remains largely unexplored because of low disorder prevalence and the lack of a suitable paradigm for testing diets. Here, we screened 35 Drosophila amino acid disorder models for disease-diet interactions and found 26 with diet-altered development and/or survival. Using a targeted multi-nutrient array, we examine the interaction in a model of isolated sulfite oxidase deficiency, an infant-lethal disorder. We show that dietary cysteine depletion normalizes their metabolic profile and rescues development, neurophysiology, …

Genetic Impact Of External Targhee Sires At The U.S. Sheep Experiment Station: A Case Study Of Introgression, Carrie S. Wilson, J. Bret Taylor, Ronald M. Lewis, David R. Notter

Department of Animal Science: Faculty Publications

Sheep breeders requested that the U.S. Sheep Experiment Station (USSES) to participate in national genetic evaluation through the National Sheep Improvement Program (NSIP). The reasons included the need for (1) a comparison of the productivity of industry and United States Department of Agriculture (USDA) lines, (2) transparency of USDA flocks, (3) genetic ties for NSIP by sampling of industry flocks, and (4) development of premium genetic lines for public release. In response, USSES began to incorporate external sires from NSIP participating flocks into the USSES Targhee flock. Our objective, based on a pedigree analysis, was to test if introgression of …

In Silico Analysis Of C-Type Lectins As Co-Infection Receptors Of Dengue And Chikungunya Viruses In Aedes Aegypti, Munawir Sazali, R. C. Hidayat Soesilohadi, Nastiti Wijayanti, Tri Wibawa, Arif Nur Muhammad Ansori

Makara Journal of Science

Aedes aegypti is a primer vector of dengue virus (DENV) and chikungunya virus (CHIKV). The susceptibility of mosquitoes to DENV and CHIKV depends on their recognition receptor of pathogens. C-type lectins (CTLs) are an important mediator of virus infection in A. aegypti. This study aims to identify potential receptors and determine the binding affinity between ligand–receptor interaction, CTLs and virus envelopes (DENV-1, 2, 3, and 4 and CHIKV) interaction based on in silico analysis. Sample sequences were obtained from GenBank (NCBI), and 10 CTLs were acquired from VectorBase. Homology modeling based on a minimum standard of 20% was processed …

Advancing Primary Ciliary Dyskinesia Diagnosis Through High-Speed Video Microscopy Analysis, Wilfredo De Jesús-Rojas, Zachary J Demetriou, José Muñiz-Hernández, Gabriel Rosario-Ortiz, Frances M Quiñones, Marcos J Ramos-Benitez, Ricardo A Mosquera

Faculty, Staff and Student Publications

Primary ciliary dyskinesia (PCD) is an inherited disorder that impairs motile cilia, essential for respiratory health, with a reported prevalence of 1 in 16,309 within Hispanic populations. Despite 70% of Puerto Rican patients having the RSPH4A [c.921+3_921+6del (intronic)] founder mutation, the characterization of the ciliary dysfunction remains unidentified due to the unavailability of advanced diagnostic modalities like High-Speed Video Microscopy Analysis (HSVA). Our study implemented HSVA for the first time on the island as a tool to better diagnose and characterize the RSPH4A [c.921+3_921+6del (intronic)] founder mutation in Puerto Rican patients. By applying HSVA, we analyzed the ciliary beat frequency …

Exploring The Role Of Calcineurin In Filamentation Across Inducing Conditions In The Fungal Pathogen Candida Albicans, Patricia Harte-Maxwell, Jill R. Blankenship

UNO Student Research and Creative Activity Fair

Candida albicans is an opportunistic human pathogenic fungus affecting millions of people globally; high mortality rates are possible in systemic infection. Filamentation or a filamentous growth pattern is a primary virulence mechanism of C. albicans underlying other virulent behaviour....

Solving The Hiv Enigma: Investigating Mutant Long-Term Non-Progressor Vpr Strands, Megan Knight, Bradford Berges

Library/Life Sciences Undergraduate Poster Competition 2024

Different variants of HIV:

➢ Rapid Progressor: aggressive symptoms, quick progression into AIDs

➢ Wild-Type: regular symptoms, regular progression into AIDs

➢ Long-Term Non-Progressor: little-

Leucine Lock: A Diagnostic Tool To Revolutionize Rapid Antigen Testing, Kaitlyn Robinson, Jonathon Hill, Benjamin Johnson, Matt Goff

Library/Life Sciences Undergraduate Poster Competition 2024

• The current field of rapid testing uses antigen tests that are ELISA-based.

• ELISA tests are expensive and can only provide results for high-antigen loads. (asymptomatic patients and/or low-antigen samples generate inaccurate results).1

• We aim to provide a cheaper rapid test that produces both quantitative and qualitative results.

Fishing For Neurocircuitry: Identifying Multi-Sensory Integrating Neurons In The Optic Tectum Of Zebrafish, Suehelen A. Garcia, Adeline Hamilton, Karianne Jex, Erika C. Marks, Jordan T. Yorgason, Tracianne B. Neilsen, Arminda Suli

Library/Life Sciences Undergraduate Poster Competition 2024

The superior colliculus (SC) is a mammalian midbrain structure involved in multimodal sensory integration and is implicated to have a role in neurodevelopmental disorders. Although the presence of multisensory integrating neurons (MINs) in the SC has been well documented by electrophysiology techniques, little is known about their morphological or molecular characterization. To identify and study MINs, we utilized SC’s non-mammalian homologous structure–the optic tectum (OT)–in the genetically tractable model organism zebrafish. In this process, we generated transgenic lines that allowed for fluorescent detection of neuronal activity by expressing the genetically engineered calcium indicators: cytoRGECO and H2B-jRGECO1a, respectively in mechanosensory hair …

Chasing The Rainbow: Systematics Of New Guinean Rainbow Skinks, Taylor Probst, Alison Whiting

Library/Life Sciences Undergraduate Poster Competition 2024

Oral Presentation Honorable Mention

• Carlia are known as the “Rainbow skinks” due to their iridescent scales (see Figure 1).

• Carlia are found across Oceania (see figure 2), however only relationships among the Australian species are known.

• New Guinean Carlia are divided into three species groups based on size, distribution, and morphology.

• Species within the Carlia fusca complex have primarily been delineated based on regional color patterns (see Figure 4).

• New Guinea is known for extreme lizard diversity, specifically within skinks.

• Research has shown that many lizard groups underwent a rapid diversification within New Guinea, …

The Genome Of Huauzontle (Chenopodium Berlandieri), A North American Relative Of Quinoa, Ashley K. Marcheschi, Jeff Maughan, Peter J. Maughan, David E. Jarvis, Kate E. Jaggi, Eric N. Jellen

Library/Life Sciences Undergraduate Poster Competition 2024

Quinoa (Chenopodium quinoa) is a popular Andean seed crop that has a reduced ability to thrive outside of its native range. A related member of the Allotetraploid Goosefoot Complex (ATGC), pitseed goosefoot (Chenopodium berlandieri), is a minimally invasive North American weed that is able to survive in climates and environments that are restrictive to quinoa growth. C. berlandieri has been independently domesticated at least three times, including in Mesoamerica as the immature panicle vegetable ‘huauzontle.’ To assess the capacity of C. berlandieri as a genetic resource for improvement of C. quinoa, we sequenced the whole genome of a huauzontle accession …

Examining Cetp Gene Associated With Ad-Related Diseases Of The Hispanic Population In The Rio Grande Valley., Erika Guajardo, Luis Aguillon, Daniela Ollervides-Charles, Kesheng Wang, Gladys Maestre, J. Garza, Chun Xu

Research Symposium

Background: There are currently about 6 million people in the United States that suffer from Alzheimer’s Disease (AD) and Alzheimer’s Disease related dementia (ADRD). It is a progressive disease beginning with mild memory loss and possibly leading to loss of the ability to carry on a conversation and respond to the environment. Over time, these conditions can cause many different health issues that decrease the quality of life. In addition, Hispanic people are twice as likely to develop AD or AD related dementia than non-Hispanic White people. In our study, we are investigating a known gene, CETP, that directly corresponds …

Linking Shared Decision Making To Outcomes In Simulated Prenatal Genetic Counseling Sessions, Raquel C. Chavarria

USF Tampa Graduate Theses and Dissertations

Shared decision-making (SDM), defined as the collaborative process between patient and healthcare provider to arrive at a values-based clinical decision, may be valuable in genetic counseling (GC) given that patients are often faced with various options. Four published studies have measured or made conclusions about the use of SDM skills in GC settings, but only one study evaluated relationships between third-party observations of SDM in recorded GC sessions and patient-reported outcomes (i.e., anxiety and decisional conflict) and found no correlations between these measures. The purpose of this study was to evaluate relationships between SDM and measures of patient-reported experience (i.e., …