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Symptom Experience Of Patients With Advanced Melanoma Undergoing Immune Checkpoint Inhibitor Therapy, Natalie Jackson-Carroll Aug 2023

Symptom Experience Of Patients With Advanced Melanoma Undergoing Immune Checkpoint Inhibitor Therapy, Natalie Jackson-Carroll

Dissertations & Theses (Open Access)

Background: Immune checkpoint inhibitors (ICIs) are novel therapeutic agents utilized in the management of advanced melanoma. Though generally well-tolerated, patients receiving ICIs experience treatment-related toxicities at varying onset and intensity. Assessment and evaluation of these toxicities and their impact on a quality of life is essential to comprehensive cancer care. Patient-reported outcomes (PRO) contribute vital data to a clinical assessment, supporting clinicians in their ability to improve outcomes. To date, there is no melanoma-specific or ICI-specific PRO measure of symptom burden available.

Purpose: The purpose of this study was to describe the symptom experience from the patient's perspective and how …


Baby Boomer Gay Men’S Lived Experiences With Primary Healthcare: A Qualitative Study, Aaron J. Loeb Aug 2023

Baby Boomer Gay Men’S Lived Experiences With Primary Healthcare: A Qualitative Study, Aaron J. Loeb

Dissertations & Theses (Open Access)

Background: Baby boomer gay men have experiences discrimination in healthcare settings. Members of the LGBTQIA+ population are often studied as a single entity, which fails to account for the distinct cultural and social generational differences within this population that may affect their experiences of health care. A paucity of research is available on baby boomer gay men’s perspectives about primary healthcare experiences. Such knowledge is necessary to improve inclusiveness in healthcare settings and health outcomes.

Purpose: The purpose of this study was to describe baby boomer gay men’s lived experiences with primary healthcare. The specific aims are to describe: (1) …


Mental Health And Parenting Among Young Adults Experiencing Homelessness With And Without Their Children, Rebecca Bergh Aug 2023

Mental Health And Parenting Among Young Adults Experiencing Homelessness With And Without Their Children, Rebecca Bergh

Dissertations & Theses (Open Access)

Background: Parent-child separation and custody loss are common among parenting young adults experiencing homelessness (YAEH). These experiences may be traumatic for YAEH, a population already vulnerable to mental health disorders and high levels of trauma. Little is known about how YAEH who have their children with them compare to YAEH separated from their children in terms of mental health and risk and resilience factors. Further evidence is needed to better understand the parenting and mental health support needs among YAEH, particularly surrounding parent-child separation.

Aims: This study aimed to examine the characteristics of (1) parenting YAEH living with their children …


Noninvasive Screening Of Nonalcoholic Fatty Liver Disease Among People Living With Hiv, Essi M. Havor May 2023

Noninvasive Screening Of Nonalcoholic Fatty Liver Disease Among People Living With Hiv, Essi M. Havor

Dissertations & Theses (Open Access)

Background: Nonalcoholic fatty liver disease (NAFLD) disproportionately affects up to 75% of people living with HIV (PLWH). Given the high HIV prevalence in Houston and Harris County, knowledge of the prevalence of NAFLD in PLWH is needed to inform prevention efforts. In addition, such knowledge is required to raise awareness among at-risk individuals and healthcare professionals.

Specific Aims: This cross-sectional study aimed (1) to examine the demographic, behavioral, clinical, and psychosocial characteristics of PLWH in Houston/Harris County, Texas, and to estimate the prevalence of NAFLD, (2) to determine factors associated with the severity of NAFLD, and (3) to identify specific …


Shared Decision Making In Self-Care Management And Health Outcomes Of Adolescents And Young Adults With Sickle Cell Disease, Judith M. Odityo May 2023

Shared Decision Making In Self-Care Management And Health Outcomes Of Adolescents And Young Adults With Sickle Cell Disease, Judith M. Odityo

Dissertations & Theses (Open Access)

Background: Shared decision making (SDM) is a model of care with a potential to guide disease self-care management and promote optimal health outcomes in adolescents and young adults (AYA) with sickle cell disease (SCD).

Aims: To identify the perceived involvement of AYA with SCD in the SDM process and examine its association with self-care management and health outcomes.

Methods: Data were collected from a major sickle cell center. Using a cross-sectional design, participants completed surveys and data were analyzed with descriptive statistics, analysis of variance, multiple linear regression, and correlational statistics.

Results: Participants (N=25) were on average age 22.72 (SD …


Impact Of Personal, Familial, And Socioeconomic Factors On The Return Of Remotely Collected Samples For Genetic Testing, Jordan Zeiger May 2023

Impact Of Personal, Familial, And Socioeconomic Factors On The Return Of Remotely Collected Samples For Genetic Testing, Jordan Zeiger

Dissertations & Theses (Open Access)

There are a multitude of barriers known to impact access to medical care in the United States. COVID-19 has changed and compounded these barriers and led to a shift in the setting of the genetic counseling (GC) appointment, and in sample types used for genetic testing, specifically with use of telemedicine and remotely collected saliva kits. Previous studies have described lack of patient follow-through in returning these kits. Though the understanding of barriers to medical care, including access to genetics services, is well described, there is little in the literature for how these barriers impact the return of remotely collected …


Impact Of Recent Abortion Legislation On Patient Trust In Healthcare Providers, Jasmine Tyson Ms May 2023

Impact Of Recent Abortion Legislation On Patient Trust In Healthcare Providers, Jasmine Tyson Ms

Dissertations & Theses (Open Access)

Trust is a key aspect of any patient-provider relationship as patients must rely on their healthcare providers (HCPs) to provide appropriate care and guidance, maintain confidentiality, and act in their best interests. Studies suggest that recent changes to abortion legislation have resulted in a loss of the patient-physician relationship, with individuals describing feelings of isolation and fear regarding safety and confidentiality, and many seeking information outside of the medical community. An anonymous survey was distributed among members of abortion support groups and advocacy organizations in the United States to assess how recent changes to abortion legislation may impact patient trust …


The Need For Racial And Ethnic Health Disparity Curriculum In Genetic Counseling Programs, Yusra Aziz May 2023

The Need For Racial And Ethnic Health Disparity Curriculum In Genetic Counseling Programs, Yusra Aziz

Dissertations & Theses (Open Access)

Racial and ethnic health disparities (REHD) exist across all organized medicine, including the spectrum of genetic counseling, particularly in genomic testing and access to care. While cultural competency and health disparities have been included as a part of the Standards of Accreditation for Genetic Counseling, there have not been previous efforts to define what topics related to REHD are most important to include in graduate program curriculum. Therefore, this study aimed to determine what topics related to REHD should be taught in genetic counseling program curriculum by assessing what topics genetic counselors (GCs) learned about and in what settings, …


Leveraging Digital Technologies For Management Of Peripartum Depression To Mitigate Health Disparities, Alexandra Zingg Apr 2023

Leveraging Digital Technologies For Management Of Peripartum Depression To Mitigate Health Disparities, Alexandra Zingg

Dissertations & Theses (Open Access)

Health disparities are adverse, preventable differences in health outcomes that affect disadvantaged populations. Examples of health disparities can be seen in the condition of peripartum depression (PPD), a mood disorder affecting approximately 10-15% of peripartum women. For example, Hispanic and African-American women are less likely to start or continue PPD treatment. Digital health technologies have emerged as practical solutions for PPD care and self-management. However, existing digital solutions lack an incorporation of behavior theory and distinctive information needs based on women’s personal, social, and clinical profiles. Bridging this gap, I adapt Digilego, an integrative digital health development framework consisting of: …


Good Faith: Surveillance And Evaluation Of 911 Good Samaritan Laws In The United States, Shane W. Reader Dec 2022

Good Faith: Surveillance And Evaluation Of 911 Good Samaritan Laws In The United States, Shane W. Reader

Dissertations & Theses (Open Access)

To fight soaring overdose mortality rates in the United States, lawmakers adopted a variety of harm reduction tools. Among these, 911 Good Samaritan Laws (GSLs) derive their name from the biblical parable of the Good Samaritan, a bystander who broke cultural convention to come to the aid of a man beset by thieves. These laws provide limited criminal immunity for bystanders in possession of controlled substances to encourage them to report drug overdoses. While previous studies associate GSLs with a modest reduction in opioid mortality, analyses often model them as equivocal or divide them coarsely across individual provisions. Evaluating these …


Perceptions And Roles Of Genetic Counselors In Perinatal Palliative Care: Where Are We Now?, Amanda Chamberlain Aug 2022

Perceptions And Roles Of Genetic Counselors In Perinatal Palliative Care: Where Are We Now?, Amanda Chamberlain

Dissertations & Theses (Open Access)

After the identification of a life-limiting fetal diagnosis, a perinatal palliative care (PPC) team can provide specialized medical care and emotional support for the family throughout the pregnancy and after delivery. Although the growth of the field of PPC over the last ten years is well-documented, there is only one study to date that explores the experiences of genetic counselors with regards to PPC. This study seeks to further the understanding of genetic counselors’ current perceptions of, experiences with, and roles in the delivery of PPC.

An edited version of the Perinatal Palliative Care Perceptions and Barriers Scale was used …


Listening To Remotely Monitored Home-Based Preferred Music For Pain In Older Adults With Low Back Pain: A Pilot Study Of Feasibility And Acceptability, Setor Kofi Sorkpor Aug 2022

Listening To Remotely Monitored Home-Based Preferred Music For Pain In Older Adults With Low Back Pain: A Pilot Study Of Feasibility And Acceptability, Setor Kofi Sorkpor

Dissertations & Theses (Open Access)

Background: Low back pain (LBP) is a complex, multifaceted, and widespread condition that impairs the quality of life of older adults aged 65 years or older. Although nonpharmacologic interventions informed by the biopsychosocial model are recommended as first-line therapy for LBP, pharmacologic therapies, including opioids, are commonly used as first-line interventions in practice. This could be attributed to a lack of understanding of the analgesic properties of most nonpharmacologic interventions. Nonetheless, some nonpharmacologic therapies, such as passive music listening, have been shown to modulate pain via pathways that target the neurophysiological mechanisms associated with pain.

Specific Aims: The specific aims …


Perceptions Of Integrating Immersive Virtual Reality Simulation As A Teaching Methodology In A Hospital Setting, Ladonna Christy May 2022

Perceptions Of Integrating Immersive Virtual Reality Simulation As A Teaching Methodology In A Hospital Setting, Ladonna Christy

Dissertations & Theses (Open Access)

Introduction As newly licensed nurses enter the workforce with limited experience and limited clinical reasoning skills, nursing educators must employ innovative strategies to teach graduate nurses how to identify and manage clinical deterioration – skills which are vital to saving lives and improving outcomes. Fully immersive Virtual Reality (VR), (also defined as Immersive VR) is one effective educational strategy available for hospital educators to use for preparing newly licensed nurses to recognize and manage clinical deterioration.

Objective The purpose of this study was to explore perceptions of hospital-based nurse educators, simulation specialists, and nursing leaders with respect to integrating immersive …


Factors Associated With Advance Care Planning Engagement In Healthy Young Adults, Pablo J. Vasquez May 2022

Factors Associated With Advance Care Planning Engagement In Healthy Young Adults, Pablo J. Vasquez

Dissertations & Theses (Open Access)

Background: Advance care planning (ACP) is a process that supports individuals at any stage of health in understanding and sharing their personal values and goals pertaining current or future medical needs with their families and healthcare providers. Although ACP is applicable to adults of any age and any stage of the health continuum, it is widely associated with older or terminally ill populations, and the need for end-of-life (EOL) planning in healthy young adults is generally found unnecessary. The National Institutes of Health supports the expansion of ACP research in understudied populations. Investigating ACP in healthy young adults support such …


Parental Stress In Tuberous Sclerosis Complex, Jenny Do May 2022

Parental Stress In Tuberous Sclerosis Complex, Jenny Do

Dissertations & Theses (Open Access)

Tuberous Sclerosis Complex (TSC) is a multi-systemic genetic disorder with great clinical variability. As the needs of one child with TSC may vastly differ from another, parenting demands may similarly differ. Characterizing parental stress, or emotional maladaptation arising from parenting duties, can enable healthcare providers to assist parents of children most efficiently with TSC-related symptoms and improve both parent and child health outcomes. This study surveyed 269 parents of children (aged 0-12 years) with TSC and received the following information: children’s TSC clinical features, parent demographics, and a Parent Stress Index (PSI) score. Parents reported higher stress levels for children …


Investigating The Attitudes Of The D/Deaf Community Towards Genetic Counseling And The Utilization Of Genetic Services, Katie Baudoin, Jennifer Czerwinski, Laura Farach, Malorie Jones, Rebecca Lunstroth, Caitlin Mauer, Chelsea Wagner May 2022

Investigating The Attitudes Of The D/Deaf Community Towards Genetic Counseling And The Utilization Of Genetic Services, Katie Baudoin, Jennifer Czerwinski, Laura Farach, Malorie Jones, Rebecca Lunstroth, Caitlin Mauer, Chelsea Wagner

Dissertations & Theses (Open Access)

The Deaf community has previously expressed concerns about the process of genetic counseling/testing and the potential implications it can have for Deaf individuals. Prior studies have explored the motivations of Deaf individuals for pursuing genetic testing related to deafness; however, information regarding the interest and motivations for indications other than deafness is limited. Our study aims to characterize attitudes of individuals within the d/Deaf community towards genetic counseling and testing and to assess interest and motivations to seek genetic counseling for indications other than deafness.

Individuals were recruited through local and national d/Deaf organizations to participate in an anonymous, online …


Assessing The Impact Of Camp Phever On Blood Phenylalanine Levels, Michelle Zelnick May 2022

Assessing The Impact Of Camp Phever On Blood Phenylalanine Levels, Michelle Zelnick

Dissertations & Theses (Open Access)

Phenylketonuria (PKU) is a metabolic disorder that results in accumulation of the amino acid, phenylalanine, throughout the body. This can result in neurocognitive complications if individuals with this disease do not follow a low-protein diet. Camp PHEver is a weeklong summer camp that gives children with PKU an opportunity to obtain skills related to diet compliance, but also enhance their confidence, relationship development, and independence. Through learned skills and the strict diet regimen at camp, campers were found to have a statistically significant drop in phenylalanine (PHE) levels within a single attendance (mean decrease per year range = 2.1 to …


The Effect Of Cognitive Status And Residency On Oral Health In Patients With Dementia, Nicole Stephens May 2022

The Effect Of Cognitive Status And Residency On Oral Health In Patients With Dementia, Nicole Stephens

Dissertations & Theses (Open Access)

Poor oral health is a predictor of cognitive decline in elderly populations and has been shown to precede dementia. As cognitive decline progresses, patients are likely to move from the community into nursing facilities. We hypothesize that severity of dementia and residency type will impact the oral health of patients with dementia. Fifty-two participants of two dementia levels were recruited from the UTHealth Neurocognitive Disorders Center and two Houston-area nursing homes. A standardized oral health assessment, plaque index, and oral bacteria analysis determined participants’ oral health status. Further, data was collected on participants’ medical history, oral hygiene habits, dietary habits, …


Non-Invasive Prenatal Screening (Nips) Testing Motivations And Informed Decision Making In The Low-Risk Population, Jenna Lea May 2022

Non-Invasive Prenatal Screening (Nips) Testing Motivations And Informed Decision Making In The Low-Risk Population, Jenna Lea

Dissertations & Theses (Open Access)

Non-Invasive Prenatal Screening (NIPS) provides a risk assessment for aneuploidies by utilizing cell-free DNA (cfDNA). Recently, it was recommended that NIPS be offered to all pregnant people regardless of a priori risk for aneuploidy. In the absence of an increased risk, alternative motives for electing NIPS, such as for fetal sex disclosure, may arise and result in a less informed decision about proceeding with NIPS. Therefore, our study aimed to characterize low-risk patients’ motivations for NIPS election, compare motivations between informed and uninformed decision makers, and determine whether electing NIPS for fetal sex disclosure had any bearing on informed decision …


Atr-Mediated Cd47 And Pd-L1 Upregulation Restricts Radiotherapy-Induced Immune Priming And Abscopal Responses In Colorectal Cancer, Cheng-En Hsieh, Cheng-En Hsieh May 2022

Atr-Mediated Cd47 And Pd-L1 Upregulation Restricts Radiotherapy-Induced Immune Priming And Abscopal Responses In Colorectal Cancer, Cheng-En Hsieh, Cheng-En Hsieh

Dissertations & Theses (Open Access)

Radiotherapy of colorectal cancer (CRC) can prime adaptive immunity against tumor-associated antigen (TAA)-expressing CRC cells systemically. However, incidences of abscopal tumor remission are extremely rare, and the post-irradiation immune escape mechanisms in CRC remain elusive. We report that CRC cells utilize a common DNA repair signaling pathway — ATR/Chk1/STAT3 — to upregulate both CD47 and PD-L1 in response to radiotherapy, which through engagement of SIRPα and PD-1 suppresses the capacity of antigen-presenting cells to phagocytose them thereby preventing TAA cross-presentation and innate immune activation. This post-irradiation CD47 and PD-L1 upregulation can be observed across various human solid tumor cells. Concordantly, …


Computer-Aided Diagnosis For Melanoma Using Ontology And Deep Learning Approaches, Xinyuan Zhang Apr 2022

Computer-Aided Diagnosis For Melanoma Using Ontology And Deep Learning Approaches, Xinyuan Zhang

Dissertations & Theses (Open Access)

The emergence of deep-learning algorithms provides great potential to enhance the prediction performance of computer-aided supporting diagnosis systems. Recent research efforts indicated that well-trained algorithms could achieve the accuracy level of experienced senior clinicians in the Dermatology field. However, the lack of interpretability and transparency hinders the algorithms’ utility in real-life. Physicians and patients require a certain level of interpretability for them to accept and trust the results. Another limitation of AI algorithms is the lack of consideration of other information related to the disease diagnosis, for example some typical dermoscopic features and diagnostic guidelines. Clinical guidelines for skin disease …


Secondary Use Of Structured Electronic Health Records Data: From Observational Studies To Deep Learning-Based Predictive Modeling, Laila Bekhet Oct 2021

Secondary Use Of Structured Electronic Health Records Data: From Observational Studies To Deep Learning-Based Predictive Modeling, Laila Bekhet

Dissertations & Theses (Open Access)

With the wide adoption of electronic health records (EHRs), researchers, as well as large healthcare organizations, governmental institutions, insurance, and pharmaceutical companies have been interested in leveraging this rich clinical data source to extract clinical evidence and develop predictive algorithms. Large vendors have been able to compile structured EHR data from sites all over the United States, de-identify these data, and make them available to data science researchers in a more usable format. For this dissertation, we leveraged one of the earliest and largest secondary EHR data sources and conducted three studies of increasing scope. In the first study, which …


Assessing Sleep Efficiency Of Nulliparous Women In The Third Trimester Of Pregnancy, Ran Hu Aug 2021

Assessing Sleep Efficiency Of Nulliparous Women In The Third Trimester Of Pregnancy, Ran Hu

Dissertations & Theses (Open Access)

Objectives: Pregnant women in the third trimester are more likely to experience sleep disorders, resulting in adverse effects on fetal health. This study aimed to evaluate the sleep efficiency (SE) of nulliparous women in their late pregnancy.

Methods: Data was extracted from the National Sleep Research Resource focusing on nulliparous women (n = 1,803) in their third trimester of pregnancy. The two-sample Wilcoxon test for continuous variables and the Chi-square test for categorical variables were used based on a normal SE cut-off of 0.85. The least absolute shrinkage and selection operator (Lasso) was used to find the risk …


Standardizing New Diagnostic Tests To Facilitate Rapid Responses To The Covid-19 Pandemic, Xiao Dong Aug 2021

Standardizing New Diagnostic Tests To Facilitate Rapid Responses To The Covid-19 Pandemic, Xiao Dong

Dissertations & Theses (Open Access)

In order to enhance the data interoperability, an expeditious and accurate standardization solution is highly desirable for naming rapidly emerging novel lab tests, and thus diminishes confusion in early responses to pandemic outbreaks. This is a preliminary study to explore the roles and implementation of medical informatics technology, especially natural language processing and ontology methods, in standardizing information about emerging lab tests during a pandemic, thereby facilitating rapid responses to the pandemic. The ultimate goal of this study is to develop an informatics framework for rapid standardization of lab testing names during a pandemic to better prepare for future public …


Advancement Of A 3d Computational Phantom And Its Age Scaling Methodologies For Retrospective Dose Reconstruction Studies, Aashish Gupta Aug 2021

Advancement Of A 3d Computational Phantom And Its Age Scaling Methodologies For Retrospective Dose Reconstruction Studies, Aashish Gupta

Dissertations & Theses (Open Access)

We have used a 3D age-scalable computational phantom for over two decades for retrospective dose reconstruction studies of childhood cancer survivors (CCS) treated with 2D historic radiotherapy (RT). However, our phantom and its age scaling functions (ASF) must be updated so that it can be used in studies that include survivors treated with contemporary RT. We aimed to implement our phantom and its age scaling functions in DICOM format and determine the feasibility of applying our ASFs to accurately scale the whole-body CT-based anatomies.

In the implementation study, we developed Python scripts that model the phantom and ASFs in a …


Identification And Characterization Of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome, Carlos C. Vera Recio Aug 2021

Identification And Characterization Of De Novo Germline Tp53 Mutation Carriers In Families With Li-Fraumeni Syndrome, Carlos C. Vera Recio

Dissertations & Theses (Open Access)

Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome caused by a deleterious mutation in TP53. An estimated 48% of LFS patients present due to a de novo mutation (DNM) in TP53. The knowledge of DNM status, DNM or familial mutation (FM), of an LFS patient requires genetic testing of both parents which is often inaccessible, making de novo LFS patients difficult to study. Famdenovo.TP53 is a Mendelian Risk prediction model used to predict DNM status of TP53 mutation carriers based on the cancer-family history and several input genetic parameters, including disease-gene penetrance. The good predictive performance of Famdenovo.TP53 was demonstrated …


Associations Of Perceived Overall Health, Psychological Distress, Functional Impairment, And Alcohol Use Among Older Adults Of Sexual Minority Status And Heterosexual Peers, Carolyn Tran May 2021

Associations Of Perceived Overall Health, Psychological Distress, Functional Impairment, And Alcohol Use Among Older Adults Of Sexual Minority Status And Heterosexual Peers, Carolyn Tran

Dissertations & Theses (Open Access)

Background: Lesbian, gay, and bisexual (LGB) adults, 50 and older, are likely to have experienced mistreatment and discrimination, contributing to poor physical and mental health and risky behaviors, such as alcohol misuse. Few studies have examined the relationships between perceived health, psychological distress, functional impairment, and alcohol use of older LGB adults and heterosexuals.

Specific Aims: The specific aims were: (1) to determine if perceived overall health status is associated with psychological distress and functional impairment in sexual minority older adults compared to heterosexual older adults, and (2) to determine if sexual minority status moderates the relationship between psychological distress …


Disability Awareness Education And Implications For Genetic Counselor Training, Lauren Douglas, Chelsea Wagner, Jennifer Czerwinski, Myla Ashfaq, Rebecca Lunstroth, Rose Vukoic May 2021

Disability Awareness Education And Implications For Genetic Counselor Training, Lauren Douglas, Chelsea Wagner, Jennifer Czerwinski, Myla Ashfaq, Rebecca Lunstroth, Rose Vukoic

Dissertations & Theses (Open Access)

The genetic counseling (GC) community has faced criticism concerning the duality of promoting patient autonomy while advocating for individuals with disabilities. Research suggests that focusing on the education of GC students could ensure GCs feel prepared to have conversations about disability, as well as strengthen the relationship with the disability community. This study aimed to evaluate the landscape of GC disability awareness education to identify gaps and strengths. The study also aimed to assess attitudes and perspectives of GCs and the disability community to identify content that should be included in GC student’s disability awareness curriculum. GCs and members of …


Investigating Barriers Experienced By Underrepresented Minorities In Becoming A Competitive Genetic Counseling Applicant, Katie Huang May 2021

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 …


Assessing Genetic Counselors' Clinical Approach And Practices Regarding Pathogenic/Likely Pathogenic Variant Downgrades, Grant Bonesteele May 2021

Assessing Genetic Counselors' Clinical Approach And Practices Regarding Pathogenic/Likely Pathogenic Variant Downgrades, Grant Bonesteele

Dissertations & Theses (Open Access)

Although rare, variant downgrades from a pathogenic/likely pathogenic (P/LP) variant to a variant of uncertain significance can have a significant impact on patients and their families in the clinical cancer setting. However, there is a lack of literature about how to approach these potentially challenging cases as a genetic counselor. Therefore, we aimed to characterize genetic counselors’ experiences, approach, and practices to variant downgrade cases using an online survey. The survey asked participants how they would approach variant downgrade scenarios involving the CDH1 or ATM genes with variable family histories. Genetic counselors appear to be united in whether they would …