Medicine and Health Sciences Commons^™

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

Dissertations & 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 …

Simulated Patient Case Development For Cultural Competency Training Of Genetic Counseling Students, Makenzie Woltz

Human Genetics Theses

One of the Accreditation Council for Genetic Counseling (ACGC) practice-based

competencies for genetic counselors is “Apply genetic counseling skills in a culturally

responsive and respectful manner to all clients.” Yet, the extent and approach in which cultural competency training is incorporated into genetic counseling training programs varies greatly. Simulated patients have been increasingly used in genetic counseling training to help students practice foundational skills in a low stakes environment. The goal of this project is to develop a clinical case for simulation that can be used as an intervention for cultural competency training of genetic counseling students. Christensen’s workbook and …

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 …

Script Concordance Testing In Genetic Counseling Training: A Pilot Study, Yakira Begun, Lila Rae Stange

Human Genetics Theses

Clinical decision-making has been successfully measured by script concordance testing in various healthcare training programs; it has never been used in genetic counseling education. The aim of this pilot study was to assess script concordance testing in the field of genetic counseling as an objective measure of clinical reasoning in trainees. The script concordance test was administered to 22 second year genetic counseling students in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. 12 genetic counselors served on a panel to provide expert judgment responses, and a scoring grid was developed using the Aggregate Scores …

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 …

Dying To Be Masculine: The Barriers Men Face To Accessing Genetic Counseling, Malia Olson

Regis University Student Publications (comprehensive collection)

There is a crisis in healthcare that is often not discussed: men’s health. Men die younger, are more burdened by illness during life, fall ill at a younger age, and have more chronic illnesses than women. Contradictory concepts of health, struggles with help-seeking, and worse healthcare outcomes and life expectancies for men can be traced back to attempts to conform to hegemonic masculine ideals or social norms. Although researchers have studied the stigma of help-seeking in men, these ideas have yet to be extended to the field of genetic counseling. This review outlines the barriers that men face when accessing …

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 …

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

Human Genetics Theses

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

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

Human Genetics Theses

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

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

Dissertations & Theses (Open Access)

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

Female Family Members Lack Understanding Of Indeterminate Negative Brca1/2 Test Results Shared By Probands, Deborah Himes, Deborah K. Gibbons, Wendy C. Birmingham, Renea L. Beckstrand, Amanda Gammon, Anita Y. Kinney, Margaret F. Clayton

Faculty Publications

Genetic test results have important implications for close family members. Indeterminate negative results are the most common outcome of BRCA1/2 mutation testing. Little is known about family members’ understanding of indeterminate negative BRCA1/2 test results. The purpose of this mixed-methods study was to investigate how daughters and sisters received and understood genetic test results as shared by their mothers or sisters. Participants included 81 women aged 40-74 with mothers or sisters previously diagnosed with breast cancer and who received indeterminate negative BRCA1/2 test results. Participants had never been diagnosed with breast cancer nor received their own genetic testing or counseling. …

Genetic Counselor Utilization And Interpretation Of Somatic Tumor Testing In Evaluation For Lynch Syndrome, Danielle Williams

Dissertations & Theses (Open Access)

Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed with LS and subsequently recommended to proceed with high risk screening protocols to increase prevention and early detection of LS-related cancers. Various tumor studies can help identify those at high risk for LS, but sometimes create uncertainty with discordant screening and germline results, leading to unexplained mismatch repair deficiency (UMMRD). Somatic testing of the MMR genes has created opportunities for resolving …

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 …

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 …

Examining The Relationship Between Genetic Counselors’ Implicit Attitudes Toward Disability And Their Practice Methods, Helen W. Gould

Dissertations & Theses (Open Access)

Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child. This role requires genetic counselors to be responsible and compassionate when approaching conversations about disability. With a lack of research on how the specific attitudes of genetic counselors toward disability impact clinical practice, we aimed to understand these attitudes, what factors affect implicit attitudes toward disability, and how these attitudes affect counseling. Case scenarios involving disability were used to examine different counseling content preferences within a genetic …

Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace

Dissertations & Theses (Open Access)

Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these patients, including their cancerous and non-cancerous features, the genetic testing strategy for this population, and the probability of having a positive germline mutation if testing is performed. The purpose of this study is to determine the most common indications for ordering genetic testing in a GU Genetics Clinic and evaluate whether there is a relationship between the indication for genetic testing …

Patient Attitudes Toward Genetic Testing For Inherited Predispositions To Hematologic Malignancies, Taylor Beecroft

Dissertations & Theses (Open Access)

Although inherited predispositions to hematologic malignancies have previously been considered extremely rare, approximately 12 causative genes have been implicated in the last decade. Since individuals diagnosed with leukemia have not historically been considered for evaluation of inherited predispositions, genetic testing is underperformed in this population. This study used focus group discussions to explore the attitudes, motivations, and barriers to genetic testing for 23 patients with leukemia. Participants generally exhibited a positive regard for the utility of genetic testing, and were primarily motivated by concern for their family and a sense of altruism toward all leukemia patients. While drawbacks and barriers …

Genetic Testing Practices Of Genetic Counselors, Geneticists, And Pediatric Neurologists With Regard To Childhood-Onset Neurogenetic Conditions, Sara Wofford

Dissertations & Theses (Open Access)

Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study noted significant variance between the testing strategies selected by pediatric neurologists compared to those of geneticists …

Undergraduate Student Perceptions And Awareness Of Genetic Counseling, Amanda Gerard

Dissertations & Theses (Open Access)

Genetic counseling (GC) is a rapidly expanding field, and the supply of certified genetic counselors is currently unable to keep up with job demand. Research is fairly limited regarding the awareness and perceptions potential genetic counseling program applicants have of the field and what factors most influence their interest in the field. This study aimed to examine some of these topics. The current study includes data collected from 1,389 undergraduate students in the sciences at 23 universities across the United States who were surveyed regarding information related to their awareness, perceptions, knowledge, and interest in GC. Data analysis was performed …

Barriers To Expansion Of Supervision Networks At Genetic Counseling Training Programs, Jordan E. Berg

Dissertations & Theses (Open Access)

Job openings outpace new graduates due to exponential growth in genetic counseling, leading to a workforce shortage. Expanding training slots to meet this demand presumably is linked to the number of supervisors. Thus, there is a need to systematically review barriers to supervision. This study aimed to determine and compare barriers to expansion of supervision networks at genetic counseling training programs as perceived by current supervisors, non-supervisors, and Program Directors. Certified genetic counselors were recruited via National Society of Genetic Counselors e-blast with an invitation to complete an online survey; Program Directors were emailed personal letters of invitation. Twenty-three Program …

The Utilization Of Prenatal Microarray: A Survey Of Current Genetic Counseling Practices And Barriers, Leslie N. Durham, Leslie Durham

Dissertations & Theses (Open Access)

Chromosomal microarray (CMA) assesses chromosome copy number variants (CNVs) missed by standard karyotyping. The American College of Obstetricians and Gynecologists (ACOG) recommends CMA for all patients with fetuses with an ultrasound anomaly and suggests that it be made available to all women undergoing invasive testing. In order to assess prenatal genetic counselors’ (GCs) practices regarding the utilization of CMA we conducted a survey of their current practices, attitudes, and perceived barriers. Of the 192 respondents, 183 (95%) have incorporated CMA into clinical practice with the majority (64%) believing that the benefits of CMA outweigh the harms. However, only half (52%) …

Genetic Counselor Workforce Trends In The United States : 2002 To 2016, Charlene J. Schulz

Legacy Theses & Dissertations (2009 - 2024)

The purpose of this study was to identify and measure trends in genetic counselor (GC) workforce supply in the United States from 2002 to 2016. Using data collected biennially from the National Society of Genetic Counselors’ Professional Status Survey (PSS), I calculated overall percent change in GC employment across specific work settings over the past 14 years. I also measured change in the relative percentage of GCs who provide direct patient counseling (i.e. clinical GCs) to determine if the percentage of clinical GCs decreased over time. Analyses were performed to determine if associations existed between GC work settings and 1) …

Nipt Results Indicative Of Maternal Neoplasms: Genetic Counselors' Preferences And Attitudes, Meagan E. Giles

Dissertations & Theses (Open Access)

Performing non-invasive prenatal testing (NIPT) on a pregnant woman with a chromosomally abnormal neoplasm may incidentally lead to the diagnosis of cancer due to the coexistence of circulating tumor and placental DNA. Published information regarding NIPT’s accuracy for neoplasm screening is limited, and guidance for patient management is currently lacking. This challenges clinicians’ ability to counsel patients regarding the implications of these results, which often is the responsibility of a genetic counselor. Over three hundred board-eligible/certified genetic counselors were surveyed regarding their awareness, preferences, and attitudes towards NIPT’s ability to indicate maternal neoplasms. Despite 95% of this cohort being aware …

Ethnic Identity And Teratogenic Risk Perceptions, Katie M. Chan

Dissertations & Theses (Open Access)

Elevated perceptions of teratogenic risk can cause anxiety and confusion among pregnant women. To assess whether ethnic identity and demographic factors can influence teratogenic risk perceptions, 194 pregnant women in Houston were surveyed using the Multigroup Ethnic Identity Measure (MEIM) and visual analog scales to quantify perceptions of teratogenic risk for common exposures during pregnancy. Overall, participants estimated an elevated baseline risk of 25% for birth defects among the general population. In addition, participants overestimated birth defect risks for specific exposures, such as alcohol and marijuana. Based on the MEIM scores, ethnic identity was not significantly associated with teratogenic risk …

Knowledge And Expectations Of Support People In Prenatal Genetic Counseling Sessions, Michelle A. Mcdougle

Dissertations & Theses (Open Access)

Prenatal genetic counseling patients have the ability to choose from a myriad of screening and diagnostic testing options, each with intricacies and caveats regarding accuracy and timing. Decisions regarding such testing can be difficult and are often made on the same day that testing is performed. Therefore, it is reasonable to consider that the support people brought to an appointment may have a role in the decision-making process. We aimed to better define this potential role by examining the incoming knowledge and expectations of support people who attended prenatal genetic counseling appointments.

Support people were asked to complete a survey …

Delivering Genetic Education And Genetic Counseling For Rare Diseases In Rural Brazil, A.X. Acosta, K Abe-Sandes, R Giugliani, Alan H. Bittles

Research outputs 2013

Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland …

Cases And Guidelines In Genetics, Roger B. Dworkin

Articles by Maurer Faculty

No abstract provided.

Hard Cases For Autonomy, Respect, And Professionalism In Medical Genetics, Roger B. Dworkin

Articles by Maurer Faculty

No abstract provided.