Genetic Counseling Thesis Abstracts

• 2023

  Latonya Alexander	PREGNANT BLACK/AFRICAN AMERICANS' EXPERIENCES IN PRENATAL GENETIC COUNSELING Latonya Alexander Advisory Professor: Claire Singletary, MS, CGC Pregnant Black/African American patients have faced systematic racism in the U.S. healthcare system embodied in the high maternal morbidity and mortality rates. Patients have the desire to feel heard and connected with their healthcare providers. Prenatal genetic counselors are not only trained to provide education to individuals, couples, and families who may be seeking genetic counseling, but also to use psychosocial skills with patients. Previous studies with majority of White participants have described how psychosocial skills build patient trust. Therefore, this study aimed to determine what factors made pregnant Black/African American patients feel heard and trustful with their prenatal genetic counselors, and to compare their experiences with prenatal genetic counseling to other healthcare appointments. Of the 54 survey respondents recruited from approved UTHealth Houston prenatal clinics (IRB HSC-DB-22-0498) that completed the initial survey recruitment request, 25 participated in a semi-structured recorded telephone interview. Transcripts were coded for themes using inductive conventional content analysis in Atlas.ti. Generally, participants shared positive feedback about their prenatal genetic counseling experiences that fell into three themes: Felt Heard, Educational, and Comfortable Environment. Core psychosocial skills of genetic counseling such as active listening and tailoring were pronounced in Felt Heard where the domains of attentive, tailoring, and answered questions were found. Participants described how the counselor being personable (rapport), iv patient, reassuring, and open built a comfortable environment where they felt like they could ask questions and the counselor checked in with them. This provided the foundation for receiving education from a provider they had confidence in. The intersection of these themes created trust in the genetic counseling relationship. This model may be viewed as the patient version of the Reciprocal Engagement Model of Genetic Counseling. The findings from this study suggest that genetic counselors who incorporate these skills when providing care to their Black/African American patients are likely to make them feel comfortable, cared for, and heard. Future studies should explore whether other healthcare providers can incorporate these skills in an effort to build trust.
  Madeline Alpar	THE DIAGNOSTIC ODYSSEY OF HYPERMOBILE EDS PATIENTS: DIAGNOSIS, CLINICAL EXPECTATIONS, AND PSYCHOSOCIAL CONCERNS Madeline Alpar Advisory Professor: Kathryn Leal, MS, CGC Background: Ehlers-Danlos syndrome (EDS) is a highly variable, heritable connective tissue disorder. Hypermobile EDS (hEDS) is the most common subtype of EDS and has no identifiable underlying genetic etiology. Patients with clinical features of hEDS face a long diagnostic odyssey due to lack of genetic testing and wide clinical heterogeneity. Additionally, recent research has shown that genetic institutions limit evaluations for suspected hEDS, adding another barrier to care. Methods: We developed an online patient survey to explore the diagnostic odyssey of hEDS for those who were diagnosed with or suspicious for hEDS. This survey included sections on demographics, diagnostic information including self-reported diagnosis of hEDS, overall medical dignity, comparison between personal expectations, hopes, and outcomes of an initial diagnostic appointment, and what patients recalled occurring in their initial diagnostic appointment. Results: Demographics of the 497 respondents were consistent with previous hEDS studies, being predominantly well-educated, white females. On average, respondents felt they had little control over their condition and life. Almost all respondents described having comorbidities and all described at least one barrier to care. Geneticists were the most likely provider to diagnose (38.4%), but not the most likely to provide thorough information. A little over half of respondents had genetic testing (56%), although it is within the revised 2017 diagnostic criteria. With regards to aspects of an appointment, respondents hoped for all elements of an appointment, but they did not expect them or have them occur. When participants' appointment expectations were met, there were correlations with all aspects of medical dignity queried in this study except for how participants managed their condition. Conclusion: The hEDS population is medially complex due to multiple comorbidities, barriers to access for diagnosis, and the lack of available genetic testing. These factors all contribute to the lack of medical dignity the population is experiencing. To increase medical dignity and patient satisfaction in this patient population, providers could implement suggestions for an ideal diagnostic appointment, including examining hEDS patients for both physical symptoms and psychological concerns, having familiarity with the diagnostic criteria, and establishing providers or clinics and referral networks for diagnosis and care management.
  Erin Atkinson	PRENATAL SCREENING DECISION-MAKING FACILITATED THROUGH AN ONLINE PATIENT EDUCATION MODULE Erin Atkinson Advisory Professor: Blair K. Stevens, M.S., C.G.C 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 patients follow-up with genetic counseling appointments when indicated. Additionally, we describe the prenatal genetic screening decisions facilitated through the PGEP module, factors associated with such decisions, and whether or how those decisions change following a subsequent genetic counseling appointment. This study will aid genetic counselors' optimization of the PGEP module and identification of variables that affect patient decisions about prenatal genetic screening.
  Yusra Aziz	THE NEED FOR RACIAL AND ETHNIC HEALTH DISPARITY CURRICULUM IN GENETIC COUNSELING PROGRAMS Yusra Aziz Advisory Professor: Claire Singletary, MS, CGC 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, what topics they find important, and how they define REHD in genetic counseling. A total of 182 practicing GCs were recruited via multipronged snowball recruitment strategy to participate in an IRB approved (HSC-GEN-22-0561) anonymous online survey in Qualtrics (v 17.1 Qualtrics, Provo, UT). Data was analyzed using descriptive statistics and Fisher exact, Chi-squares, and logistic regression model for comparisons in STATA v14.1 and open-ended responses were coded using inductive content analysis to determine themes. Results showed that Racial and Ethnic Minoritized (REM) GCs have greater familiarity with REHD topics earlier in their careers due to their lived experience, including racism (OR 15.37, 95% CI 3.27-72.40) and cultural humility (OR 6.76, 95% CI 2.57-1.779). GCs who graduated in 2014 or prior were less likely to learn about REHD topics in graduate training than more recent graduates, such as implicit bias (OR 5.25, 95% CI 1.97-14.03). GCs prioritized 21 topics across three areas as important to genetic counseling training: (1) definitions and foundational concepts such as privilege and social determinants of health, (2) genetic counseling, genetic testing and genomics areas, including frequency of variant of uncertain significance results and population bias in polygenic risk scores, and (3) historical and political topics related to marginalized groups, such as the history of the eugenics movement and reproductive justice and policies. In open ended responses, most GCs expressed needing education on examples of disparities and ways to combat these disparities. REM GCs expressed some further nuanced views of the need for historical context of medical racism and self-reflection practices about bias and privilege. The results of this study provide a foundation upon which major genetic counseling organizations can come together to create a consensus curriculum on REHD topics for genetic counseling.
  Jack Colleran	PERCEIVED UTILITY OF GENETIC CARRIER SCREENING IN A DIVERSE PATIENT POPULATION Jack Colleran Advisory Professor: Blair K. Stevens, M.S., C.G.C Carrier screening assesses whether an individual may carry variants in select genes associated with autosomal recessive and X-linked inheritance. Recent American College of Medical Geneticists (ACMG) guidelines call for utilization of expanded screening that analyzes carrier status for up to hundreds of conditions. In these guidelines, clinical utility is based on alterations to reproductive decision-making. However, clinical utility study cohorts cited by these guidelines were largely white, highly educated, of high income, and were often receiving preconception counseling. There is a lack of research on the perspectives of patients from diverse backgrounds, whose perceptions may be more reflective of those among the general population. Therefore, this study aimed to assess the perceived utility of carrier screening in an ethnically, economically, and educationally diverse population. Of survey responses gathered from maternal fetal medicine and obstetrics and gynecology clinics, two groups were assessed: 186 total respondents, and a subset of 114 who wished to know their genetic risks and were open to having children in the future. Of the subset group, 70% preferred expanded carrier screening and 30% preferred standard carrier screening. There was no statistical difference in test preference by race and ethnicity, education level, income, or insurance type. A vast majority (91%) of participants found carrier screening to be useful but only 37% stated they would change their reproductive plans if identified to be at risk through carrier screening (n=81). While attitudes toward carrier screening were positive, its perceived usefulness was low according to the ACMG definition of utility. However, participants who were not pregnant, have not had genetic testing in the past, and have higher income were more likely to change their reproductive plans. Therefore, information on reproductive decision-making choices should be provided to patients preconceptionally when they have time to consider all options, and accessibility to reproductive services must be improved for those with lower income. Further insight on the perspectives of diverse patient populations is imperative to define utility most accurately and to provide equitable access to genetic health care services.
  Emily Daykin	INVESTIGATION OF TERATOGENIC CONCERNS IN THE COVID-19 ERA Emily Daykin Advisory Professor: Myla Ashfaq, M.S., C.G.C In the United States, Coronavirus disease 19 (COVID-19) has disproportionately impacted vulnerable populations, including pregnant people, who were shown to be at higher risk of severe illness from COVID-19 infection and pregnancy complications. Research on the teratogenicity of COVID-19 is still ongoing, but overall neither COVID-19 infection nor vaccination appear to increase the risk of birth defects. Numerous studies have investigated healthcare providers’ opinions on whether and when pregnant people should get vaccinated, as well as pregnant people’s perceptions of COVID-19 vaccines and psychosocial impacts of the pandemic. However, more research is needed to identify the most common concerns regarding the teratogenicity of the virus and the vaccine. The purpose of this study is to assess the frequency and type of exposures asked about through MotherToBaby (MTB), a non-profit service operated by the Organization of Teratology Information Specialists (OTIS), from before the COVID-19 pandemic began through two years into the pandemic. 54,778 MTB contacts received from March 2018 through March 2022 were assessed for information on the 78,861 exposures asked about. Demographic information of the individual contacting MTB was collected as well. The exposures were coded into eleven broad categories, such as prescription medication, over-the-counter medication, and infection. Microsoft Excel and STATA were used to perform descriptive statistical analyses of the data set. The total number of contacts increased from 2019 to 2022 and the exposure category with the highest number of contacts was prescription medications, followed by COVID-19 related exposures. Peaks in the number of contacts relating to COVID-19 correlate with various pandemic milestones, such as when vaccines were approved by the Food and Drug Administration. Taken together, this data describes the frequency and types of exposures consumers and healthcare providers inquired about before and during the COVID-19 pandemic. This is valuable information for healthcare providers and agencies, such as the Centers for Disease Control and Prevention (CDC), to be able to better prepare for future pan/epidemics.
  Teresa Heller	THE IMPACT OF TREATMENT WITH PALYNZIQ® ON QUALITY OF LIFE FOR INDIVIDUALS WITH PKU Teresa Heller Advisory Professor: Kate Richardson, M.S., CGC Management for phenylketonuria (PKU) has traditionally involved adhering to a strict low-protein diet to maintain phenylalanine (Phe) levels within the recommended range (μmol/L). The time commitment and financial, emotional, and social burdens of adhering to a restrictive diet, as well as the neurocognitive symptoms associated with elevated Phe levels, make it challenging to manage PKU and lead to reductions in quality of life. Palynziq® is an enzyme substitution therapy used to lower blood Phe levels and liberate individuals with PKU from their restrictive diets. Previous studies have demonstrated the safety and efficacy of Palynziq®, but our study is the first to our knowledge to investigate the subjective impact of Palynziq® on quality of life. We surveyed 34 individuals currently treated with Palynziq® about its impact on four domains of quality of life: neurocognitive, emotional/psychiatric, social, and practical. There was a statistically significant improvement in every symptom and impact on quality of life addressed by this study after responding to Palynziq® (p < 0.05). The greatest improvements were in guilt and stress about diet and Phe levels; difficulty with planning/organization and concentration/attention; difficulty and inconvenience of diet adherence; and diet satisfaction. The majority of participants agreed or strongly agreed that Palynziq® made daily life easier and that it improved their cognitive functioning, emotional wellbeing, physical health, and social interactions. For nearly every impact on quality of life, there were no significant differences in improvement based on average Phe levels pre-Palynziq®, indicating that Palynziq® may be beneficial regardless of initial Phe levels. Quality of life aspects that remained significant challenges post-Palynziq® included the financial burden and difficulty with insurance, feeling different or isolated from others, difficulty traveling, and strain in relationships with friends and family. The results of this study indicate that Palynziq® has an overwhelmingly positive impact on quality of life overall. However, there remain social and financial challenges which should be targets for support of this patient population and may be addressed by interventions such as the involvement of social workers, counselors, and psychologists in their care, as well as increased awareness of and access to financial assistance programs.
  Cindy Hernandez
  Jasmine Tyson	IMPACT OF RECENT ABORTION LEGISLATION ON PATIENT TRUST IN HEALTHCARE PROVIDERS Jasmine Tyson Advisory Professor: Aarti Ramdaney, MS, CGC 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 in HCPs and identify influencing demographic factors. Univariate analyses (Chi-square, Fisher’s exact test, Mann-Whitney U test, and Kruskal-Wallis test) and ordered logistic regression analyses were performed to evaluate the relationship between trust and demographic variables. Of the 142 responses, 25% reported a decrease in trust in their HCPs. Those residing in states hostile to abortion access were more likely to indicate a reduction in trust.
  Jordan Zeiger	IMPACT OF PERSONAL, FAMILIAL, AND SOCIOECONOMIC FACTORS ON THE RETURN OF REMOTELY COLLECTED SAMPLES FOR GENETIC TESTING Jordan Zeiger Advisory Professor: Maureen Mork, MS, CGC 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 saliva kits for genetic testing. This retrospective chart review of two hospital systems in Houston, Texas, one a specialty hospital and one a safety-net hospital, obtained personal and familial health, demographic, and socioeconomic information on 326 individuals who consented to hereditary cancer genetic testing and were sent a saliva collection kit for remote sample collection. The overall rate of saliva kit return was 84.3%. Non-White patients were less likely to return saliva kits at both hospital systems, and patients with higher measure of socioeconomic disadvantage were less likely to return their kits at the safety-net hospital. These results are consistent with previously reported barriers to health and genetics care. However, other variables associated with common barriers to medical care, or personal factors associated with genetic testing motivation, were not found to be statistically significant. Patient loss to follow-up for genetic testing may be inherent to remote sample collection, beyond what is associated with known barriers to genetics care. GCs can use this information to modify how they discuss remote sample collection with their patients. Gauging patient interest about what type of sample collection may work best for them and advocating for a blood draw instead of a remotely collected sample when feasible could improve the rates of return for remote collection kits, and therefore increase the number of patients receiving genetic results that may impact care for themselves and their families.

• 2022

  Michelle Appel	PRENATAL TESTING DECISIONS AND MOTIVATIONS IN PREGNANCIES CONCEIVED VIA IN VITRO FERTILIZATION Michelle Appel Advisory Professor: Aarti Ramdaney, MS, CGC Currently, there is limited information about how conceiving through in vitro fertilization (IVF) and preimplantation genetic testing for aneuploidy (PGT-A) impact the decisions individuals make about prenatal genetic testing. This quantitative study aimed to examine the prenatal testing decisions made by pregnant individuals who conceived via IVF as well as to compare the prenatal testing decisions and motivations between those who had PGT-A and those who did not. An anonymous survey was distributed through online support forums and in clinical settings to eligible individuals. Overall, 230 complete responses were collected with 203 participants far enough along in pregnancy to make testing decisions. Of those, 80.3% only had a screening test, 3.5% only underwent a diagnostic test, 2.5% had a screening test and a diagnostic test, and 13.8% did not have any testing. There was no statistical difference between the testing options reportedly offered (p=0.565) or performed (p=0.816) by those in the PGT-A group (166/203) versus those in the non PGT-A group (64/203). Individuals in both groups commonly listed healthcare provider recommendations as well as results of previous ultrasounds or screening tests as influential factors in their testing decisions. Individuals who had PGT-A were more likely to cite insurance coverage (p=0.023), healthcare provider recommendation (p=0.012), assessing the risk of a genetic condition (p=0.019), and reducing anxiety (p=0.022) as important or very important factors in their decision to undergo a screening test. Thorough, patient-centered discussions are important to assess individual goals, values and risk thresholds.
  Emilyn Banfield	ANALYSIS OF HUNTINGTON DISEASE CAREGIVER QUALITY OF LIFE USING THE ENROLL-HD POPULATION Emilyn Banfield Advisory Professor: Huntington disease (HD) is a neurodegenerative condition inherited in an autosomal dominant manner caused by a CAG triplet repeat expansion within the HTT gene. Thus, HD is unique among neurodegenerative disorders with a caregiver population often burdened by both the caregiver role and concern over transmission to at-risk relatives. This study characterized caregiver quality of life over time using the Enroll-HD study population, an observational cohort with data collected from 171study sites across 20 countries. Self-reported quality of life measures from 3,591 caregiver/patient dyads at the first/baseline Enroll-HD appointment, 192 dyads at the third annual appointment, and 49 dyads at the fifth annual appointment were assessed. We found that at baseline and the third visit, HD caregivers reported negative feelings regarding their caregiver role, quality of life, and how others behave towards their loved one. By the fifth visit, they reported improvement in quality of life and social stresses related to caring for an HD patient. There were no demographic subgroups uniquely associated with quality of life over time. These results are consistent with previous HD caregiver quality of life studies and the use of a large, diverse caregiver population means that our results are applicable to the international HD community in ways that were previously unfeasible. They also highlight the need for targeted caregiver intervention and assistance by practitioners, genetic counselors, and social workers at various points throughout HD progression.
  Katie Baudoin	INVESTIGATING THE ATTITUDES OF THE D/DEAF COMMUNITY TOWARDS GENETIC COUNSELING AND THE UTILIZATION OF GENETIC SERVICES Katie Baudoin Advisory Professor: Jennifer Czerwinski, MS, CGC 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 survey. Of the 54 responses, 61% identified with the Deaf community. Thirty percent indicated having prior experience with genetic counseling and testing. Overall scores of satisfaction were consistent with most participants being satisfied with their sessions. Both individuals with prior experiences and individuals without experience expressed interest in genetic counseling about a variety of indications, although individuals still seemed to feel overall neutral towards genetic counseling and testing. Surprisingly, 60% of individuals who identified with the Deaf community agreed with the statement that deafness is a disability. These findings indicate that despite literature and generalizations about the Deaf community and their beliefs, these views may not be representative of all Deaf patients and can further damage rapport and trust if wrongly assumed. To overcome the decades of distrust and injustices, healthcare providers need to engage in culturally competent, patient-centered care, especially in historically marginalized communities like the d/Deaf community.
  Amanda Chamberlain	PERCEPTIONS AND ROLES OF GENETIC COUNSELORS IN PERINATAL PALLIATIVE CARE: WHERE ARE WE NOW? Amanda Chamberlain Advisory Professor: Ann Theresa Wittman, MS, CGC 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 to collect data via anonymous online survey of practicing genetic counselors. A total of 75 responses were used. Genetic counselors were more likely to be familiar with PPC if PPC was available at their institution (p=0.003) and if they had high levels of personal comfort with PPC (p < 0.0001). Multiple linear regression analysis revealed that familiarity with PPC, confidence in caring for families with a life-limiting fetal diagnosis, personal comfort with PPC, and barriers genetic counselors experienced in their clinical practice were all statistically significant predictors for variance in genetic counselors’ comfort in referring to PPC. Conventional content analysis revealed that genetic counselors in our study generally believed that they are valuable members of the multidisciplinary team that participate in PPC. The results of this study illustrate factors that impact referral comfort have evolved over the last ten years. The findings also exemplify the multidisciplinary nature of PPC and that PPC services are provided via a team of healthcare providers and other specialists. They also establish further support that genetic counselors are important part of the PPC team.
  Jennny Do	PARENTAL STRESS IN TUBEROUS SCLEROSIS COMPLEX Jennny Do Advisory Professor: Kate Mowrey, M.S., CGC 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 with certain skin and ocular TSC features, intractable epilepsy with or without status epilepticus, low adaptive functioning, neuropsychiatric diagnoses (TSC-Associated Neuropsychiatric Disorders; TAND), and parent race and income. These variables accounted for 69% of variability in parent’s PSI scores. Overall, 50% of parents achieved a clinically relevant PSI. Thematic analyses identified stressors consistent with survey findings and noted that parents face uncertainty and a lack of personal or healthcare support as additional stressors. Utilizing this data to improve parent’s healthcare experience can be achieved in multiple methods: improving coordination between counseling and school services with a focus on parent-child interactions, assessing barriers to healthcare or accessing early childhood intervention, and providing psychosocial assessment to all parents with a low threshold for referral to a mental health specialist. These suggestions may efficiently ameliorate parental stress and ultimately improve quality of life for families and patients with TSC.
  Jenna Lea	NON-INVASIVE PRENATAL SCREENING (NIPS) TESTING MOTIVATIONS AND INFORMED DECISION MAKING IN THE LOW-RISK POPULATION Jenna Lea Advisory Professor: Meagan Choates, MS, CGC 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 making. A survey that included a validated measure of informed choice (MMIC) and questions to assess patients’ motivations for NIPS was offered at four UTHealth clinics post genetic counseling. It was found that 44% of participants made an uninformed decision about testing. Participants with private insurers were 5.92 times more likely to make an informed decision (95% CI =1.28-33.05), and participants that self-identified as Black were 9.64 times more likely to make an uninformed decision (CI=0.009-0.737). Informed decision makers scored avoiding invasive procedures higher (p= 0.007) and ranked doing what family/friends desire lower (p = 0.0048) than uninformed decision makers. While most participants scored receiving information about genetic conditions highest, 12% of participants reported fetal sex disclosure as a priority. However, this was not found to be associated with uninformed decision making. Instead, prioritizing fetal sex was associated with a younger age (p=0.049) and experience with NIPS in previous pregnancies (p=0.034). This study ultimately established shared motivations with the high-risk population, showed no association between fetal sex disclosure motivation and uninformed decision making, characterized participants prioritizing fetal sex, and emphasized the importance of complete pre-test counseling.
  Emile Moura Coelho da Silvah	EXPERIENCES OF RACIAL AND ETHNIC MINORITY PATIENTS WITH GENETIC COUNSELING Emile Moura Coelho da Silvah Advisory Professor: Myla Ashfaq, MS, CGC Racial and ethnic minority patients in the United States undoubtedly suffer from inequalities in healthcare. While some studies have explored these inequalities in the field of genetic counseling specifically, research relating to genetic counseling outcomes in diverse patient populations is still limited. With the number of non-Hispanic White individuals in the United States projected to decrease by 20 million by 2060, it becomes imperative to better understand the experiences of racial and ethnic minority patients to meet their needs. Therefore, this study aimed to further describe the experiences of racial and ethnic minority patients who received genetic counseling services. In addition to investigating factors such as satisfaction and trust, this study set out to explore whether racial/ethnic concordance between patients and genetic counselors had an impact on the overall experience of patients with genetic counseling. Patients were recruited by genetic counselors at different clinics across Houston, TX. Seventeen participants completed telephone interviews. Open-ended responses to the interview questions were transcribed and analyzed by the principal investigator using inductive analysis. Overall, all participants had a positive experience with genetic counseling. Most participants expressed they trusted the genetic counselor (n=14), due to the knowledge and positive traits (e.g., patient, open, caring) exhibited by the provider. Additionally, most believed the genetic counselor was prepared to see a patient from their racial/ethnic background (n=15), either due to the training genetic counselors receive or due to race/ethnicity not being a factor at play. While racial/ethnic concordance between patient and genetic counselor did not seem to directly affect participants’ experiences, some participants identified benefits of having a concordant healthcare provider, including their ability to relate and understand more (n=5). This highlights the importance of cultural competence and cultural humility training for genetic counselors and provides additional evidence for diversifying the field.
  Gina Sanchez	STATUS OF ABORTION CURRICULUM IN GENETIC COUNSELING: SURVEY OF GRADUATE PROGRAMS AND RECENT GRADUATES IN THE UNITED STATES Gina Sanchez Advisory Professor: Aarti Ramdaney, MS, CGC Genetic counselors are trained to help individuals navigate the medical and psychological implications of genetic test results, familial conditions, and ultrasound anomalies. Therefore, familiarity of reproductive options, including abortion, is vital. Previous studies have found gaps in genetic counselors’ knowledge regarding abortion care. Currently, there are currently no recommendations regarding abortion curriculum or education. Thus, this study aimed to assess the state of abortion curriculum in genetic counseling programs in the United States (U.S.) and to examine and compare the satisfaction levels of program representatives and recent graduates. Program representatives and recent graduates were invited to complete an anonymous survey evaluating abortion curriculum, satisfaction with said curriculum, and preparedness to counsel on abortion. Quantitative data from 46 program representatives and 123 recent graduates were analyzed using descriptive statistics and appropriate statistical analyses, including Mann-Whitney-U test and Kruskal-Wallis test. Large variability existed in the amount and types of abortion training. Results showed greater satisfaction and feelings of preparation to counsel on abortion in recent graduates whose program provided a dedicated abortion curriculum (p < 0.001, p=0.005). Additionally, recent graduates with abortion counseling experience felt less prepared to counsel on abortion than their programs believed them to be (p=0.04). Graduates perceived procedural timing, facilitation of genetic testing, support desired, decision making, and federal legislation to be the most important topics, though these were not covered in all programs; therefore, the inclusion of these topics into genetic counseling practice-based competencies should be considered. Program representatives and recent graduates alike noted that variability in clinical training is a barrier in abortion education, therefore role plays and use of standardized patients are proposed as potential solutions. Our results demonstrate a need for curricular reform in order to reduce variability in training and ensure that all graduates receive the same foundational abortion education.
  Natalie Stoner	INVISIBLE DISABILITIES, ACADEMIC CAPITAL AND COMPETITIVENESS OF GENETIC COUNSELING APPLICANTS Natalie Stoner Advisory Professor: Meagan Choates, MS, CGC The field of genetic counseling has historically lacked diversity. Recent research has begun to explore how visible diversity may present barriers to a genetic counseling applicant becoming competitive, but has not yet characterized potential barriers with invisible diversities, such as being a first-generation college student, or a part of the LBGTQ+ community. Therefore, this study aimed to address this gap among those with invisible diversities, as well as explore their academic capital (AC), a theoretical framework used to identify factors that make students more likely to succeed in post-secondary work including supportive networks, trustworthy information, family uplift, college knowledge, overcoming barriers, concerns about cost, familial expectations, and navigation of systems. Genetic counseling applicants for the 2021 and 2022 admissions match cycles were recruited via a multipronged, snowball method and surveyed via Qualtrics (IRB# HSC-MS-21-0477). Responses were analyzed using IBM SPSS [statistical software Version: 28.0.0.0]. Results indicated that individuals who are LGBTQ+ had significantly lower overall AC scores by 6.322 points (p < 0.001), particularly in the subcategories of navigation of systems (1.520, p=0.029), supportive networks (1.138, p=0.004), and trustworthy information (0.941, p=0.015). Applicants who identified as being from an NIH disadvantaged background were more likely to have concerns about cost (p < 0.001), and lower scores for college knowledge (1.578, p < 0.001). Individuals who identify as having a low socioeconomic status had greater concerns about cost (2.485, p=0.013). Lower AC subcategory scores were found for first-generation college students for college knowledge (2.539, p < 0.001), and for applicants who spoke English as a second language for supportive networks (1.296, p=0.015) and for college knowledge (1.907, p < 0.001). The results show concerns about cost of the application process were prevalent across groups, and that applicants with mentors had significantly higher AC scores (p=0.042). Therefore, the field should implement interventions to assist applicants with invisible diversity to address mentorship, trustworthy information, and costs.
  Michelle Zelnick	ASSESSING THE IMPACT OF CAMP PHEVER ON BLOOD PHENYLALANINE LEVELS Michelle Zelnick Advisory Professor: Kate Mowrey, M.S., CGC 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 7.8 mg/dL; p < 0.001 for all). When looking at the PHE drops by year, the within year difference was higher for camp years before 2007 (mean decrease: 6.3 mg/dL; range: 5.4 to 7.8) than in camp years after 2007 (mean decrease: 3.5 mg/dL; range: 2.1 to 4.6), hypothesized to be due to the availability of the PHE-reducing drug, Kuvan. The most significant discovery was that camp is most effective at reducing PHE levels in those entering camp with levels above the recommended range. Before 2007, the drop in PHE levels over an individual camp visit was significantly higher for campers with elevated pre-camp PHE (median change: -7.6 units, IQR: -10.5 to -5.1) compared to those with PHE levels in the acceptable range (median change: -0.9 units, IQR: -2.3 to 0.6) (p < 0.001). Although still statistically significant, the magnitude of this difference between campers with high verses acceptable levels of PHE was lower after 2007, with a median change in PHE levels of -4.9 units (IQR: -7.0 to -2.5) and -1.0 (IQR: -2.3 to 0.2), respectively (p < 0.001). Because many individuals with elevated PHE levels struggle with executive functioning, emphasis should be placed on returning these levels to the recommended range. Camp PHEver plays an instrumental role in bringing children and adolescents with PKU into the recommended range throughout the course of camp. Furthermore, camp has been reported by former campers to increase perceived long term diet compliance, independence, confidence, and relationship development and represent the first steps to long term PKU management.

• 2021

  Renee Bardini	ISOLATED, ABSENT CAVUM SEPTUM PELLUCIDUM: A SINGLE CENTER’S OUTCOMES AND REVIEW OF THE LITERATURE Renee Bardini Advisory Professor: Blair K. Stevens, MS, CGC An absent cavum septum pellucidum (CSP) has traditionally been associated with a wide range of neuroanatomical anomalies. With recent advancements in prenatal imaging, however, an absent CSP that occurs in isolation of other anomalies is becoming a more frequent finding. Yet knowledge of clinical outcomes remain limited. Our study aims to describe ultrasound abnormalities associated with an absent CSP and the postnatal outcomes of an isolated, absent CSP. Additionally, we explore the accuracy of prenatal ultrasounds in evaluating for an absent CSP. This is a retrospective study of all cases diagnosed with an absent CSP between January 1, 2009 and June 2, 2020 at our institution. Cases with additional structural abnormalities were included in a prenatal chart review. A postnatal chart review was only performed for cases in which the absent CSP occurred in isolation. Clinical outcomes were largely obtained from available medical records. When medical records were unavailable, outcomes were obtained directly from the child’s mother via phone survey. We identified 158 patients who were referred to our institution for a suspected absent or absent CSP. Follow-up imaging revealed that 25.9% of patients had a iv present CSP, 63.9% had an absent CSP in conjunction with other abnormalities, and 10.1% (N=16) were found to have a prenatally isolated, absent CSP. Outcome data was available for 10 of these 16 patients. Through postnatal evaluation of our isolated, absent CSP cohort, we found that two patients had discordant postnatal imaging and one patient received a diagnosis of SOD. Most patients who retained a diagnosis of an isolated, absent CSP postnatally had developmental delay ranging from mild motor and speech delay to global developmental delay (n=5/6). Our study found that fetal MRIs may be more sensitive in diagnosing a prenatally suspected isolated, absent CSP, but are not accurate predictors of who may ultimately receive a SOD diagnosis. In conclusion, an absent CSP is often associated with additional abnormalities. When isolated, the risk for SOD and developmental delays is increased.
  Grant Bonesteele	ASSESSING GENETIC COUNSELORS' CLINICAL APPROACH AND PRACTICES REGARDING PATHOGENIC/LIKELY PATHOGENIC VARIANT DOWNGRADES Grant Bonesteele Advisory Professor: Jessica Corredor, MS, CGC 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 discuss how the variant reclassification was reached, the possibility of another reclassification in the future, and implications for family members across the three variant downgrade scenarios. However, there was variability regarding the management of the proband and the recruitment of family members for family studies of the specific variant between variant downgrade scenarios. This difference in participants’ approach could be attributed to factors such as family history or gene penetrance. Still, participants exhibited the practice-based competencies outlined by ACGC and considered other factors in addition to genetic testing results. We also explored potential challenges that genetic counselors face in variant downgrade cases and found that most genetic counselors agree that counseling a patient who underwent a risk-reducing surgery prior to the variant downgrade (91%) or a patient with a variant downgrade in highly penetrant gene (64%) would be difficult. Common themes in genetic counselors’ experiences with variant downgrades included psychosocial concerns and challenges related to surgery or family history. The genetic testing laboratory that performed testing was the most common resource utilized by genetic counselors during variant downgrade cases. Ultimately, this study provides insight into how counselors approach variant downgrade cases, what challenges can occur, and what resources would be helpful in these cases.
  Lauren Douglas	DISABILITY AWARENESS EDUCATION AND IMPLICATIONS FOR GENETIC COUNSELOR TRAINING Lauren Douglas Advisory Professor:  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 the disability community completed an electronic survey with questions unique to each cohort. A total of 76 responses from the GC community and 596 responses from the disability community were analyzed. Most of the GC cohort reported receiving disability awareness training as a student (86%), however, variation was seen in the types of experiences offered by GC graduate programs. Most GC participants (71%) felt they received adequate knowledge of disability topics. However, a discrepancy was revealed when 89% of GC participants reported feeling comfortable discussing medical aspects of disability while only 65% reported feeling comfortable discussing social and lifestyle aspects of disability. Members of the disability community reported consistent perceptions which highlights a gap in GC training and indicates the need for additional guidance in creating disability awareness curriculum. For curriculum content recommendations, both GCs and the disability community agree on the importance of emphasizing four key aspects of disability including medical, social and lifestyle, lived experience, and the disability rights movement. Participants of both cohorts stressed the inclusion of exposure to persons with disabilities, understanding of the lived experience of persons with disabilities, and familiarity with support and resources. The disability community identified additional content that they felt was important to be included such as empathy training, family hardships, and mental health. While many of these factors are already included in GC training, it emphasizes the need to address these factors in disability awareness curriculum. Results from this study highlight the importance of providing a comprehensive curriculum structure for GC programs and the need for the creation of an accessible disability awareness education toolkit to minimize potential challenges with standardization.
  Katlyn Frane	EVALUATING INSURANCE APPROVAL RATES OF EXOME SEQUENCING AND ITS EFFECT ON MINORITY PATIENTS' ACCESS TO GENETIC CARE Katlyn Frane Advisory Professor: Chelsea Wagner, MS, CGC 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 patients with a public payer were 91% less likely to have ES approved, and 76% less likely to obtain ES compared to patients with a private payer. In our cohort, all minority patients were more likely to have a public payer compared to white patients. A consistent approach to ES recommendation was observed regardless of patient demographic or clinical information. In conclusion, having a public payer significantly impacts a patient’s ability to obtain ES and access the downstream benefits of testing. Additionally, the public payer barrier disproportionately effects minority patients as they are more likely to hold public payer options. Collectively, this information can support the development of payer policies and initiatives that promote equitable care of patients with rare diseases.
  Katie Huang	INVESTIGATING BARRIERS EXPERIENCED BY UNDERREPRESENTED MINORITIES IN BECOMING A COMPETITIVE GENETIC COUNSELING APPLICANT Katie Huang Advisory Professor: Rebecca D. Carter, MS, CGC 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 multi-pronged snowball recruitment method across social media, email, and websites. In total, 156 eligible participants completed the survey which included background information, application process experiences, and validated Academic Capital Scale (ACS). Responses were analyzed through STATA v14.0 for descriptive statistics and ATLAS.ti for open-ended responses. Top identity aspects in which participants felt underrepresented were race/ethnicity (49%), first-generation college student (37%), socioeconomic status (31%), multicultural background (26%), sexual orientation/LGBTQ+ (26%), and English as a second language (21%). On the ACS, there was a significant difference between participants who identified with one underrepresented group compared to more than one group (p = 0.018) suggesting intersectionality should be studied. Areas for focus based on ACS were concerns about costs, navigation of systems, and college knowledge. Shadowing a genetic counselor, costs, and personal statements were rated as the most challenging application components. The top three factors impacting where to apply were rotations, financial assistance, and cost. The National Institute of Health definition of disadvantaged emerged as a possible proxy to use in holistic admissions. These findings suggest that interventions at the institutional or social network level, such as partnerships with URM institutions or centralized mentorship/shadowing programs, would improve GC-specific AC formation. Financial assistance from training programs or state/national organizations could reduce cost barriers. Overall, creating a successful URM GC pipeline requires interventions targeted to URMs and modifying the definition of a competitive applicant through holistic admissions.
  Emily Martin	BREAST CANCER RISK FOR FEMALE RELATIVES OF MALE BREAST CANCER PATIENTS WITH NEGATIVE BRCA1/2 TESTING Emily Martin Advisory Professor: Chelsea Wagner, MS, CGC Risk models exist to estimate a female’s lifetime risk of breast cancer in the absence of a hereditary predisposition to cancer, namely Hereditary Breast and Ovarian Cancer syndrome. These risk models consider various factors such as reproductive history and family history, but few models take a family history of male breast cancer into account. This study aims to evaluate if prevalence of breast cancer among female relatives is higher when there is a family history of male breast cancer in the context of uninformative BRCA1 and BRCA2 testing. This information may aid in the process of risk assessments for patients and their families following uninformative germline genetic testing. A retrospective chart review was performed to compare the family histories of males with breast cancer (the case group) and males with prostate cancer (the comparison group) following uninformative BRCA1 and BRCA2 germline genetic testing. Univariate logistic regression was performed to calculate odds ratios for first- and second-degree relatives with statistical significance assumed at p < 0.05. Our data showed a statistically significant difference in odds ratio for first-degree relatives, however the comparison group may have had a selection bias. There was no statistically significant difference in odds ratios for maternal and paternal second-degree relatives. These results support current clinical recommendations for female relatives of male breast cancer patients following uninformative BRCA1 and BRCA2 testing, however further research is needed to better characterize the risk to female family members of males with breast cancer.
  Meaghan Mones	DERMATOLOGICAL CONCERNS FOR WOMEN AND GIRLS WITH TURNER SYNDROME Meaghan Mones Advisory Professor: David Rodriguez-Buritica, MD Turner syndrome (TS) is associated with distinct manifestations in women and girls involving many mesoderm-derived body systems, including endocrine, cardiovascular, lymphatic, and renal. Many TS signs and symptoms may go undetected until teenage years or later. Non-mesoderm-derived manifestations of dermatological nature, which are just as common as other features of TS, but often present either at birth or soon after, can aid in earlier detection and impact clinical management. The main objective of this study was to determine self-reported prevalence of various dermatological manifestations in a sample of women and girls with TS. We created a six-part questionnaire that included demographic information, dermatology referral experience, impact on quality of life, dermatological manifestation history, special issues in growth hormone therapy, and family history. We analyzed 241 responses from the UTHealth TS registry, TS Society of the United States, and TS social media groups. Although many dermatological concerns present during the first few decades of life, the overwhelming majority of respondents are not provided with dermatology referrals at diagnosis and/or available treatment methods. Some conditions like dry skin, lymphedema, vitiligo, abnormal nails, and history of skin biopsy due to a suspicion for skin cancer were especially predictive of deleterious impact on quality of life. Our data reveal that many skin conditions are highly prevalent in the TS population during the early decades of life and affirm utilizing these conditions in the TS diagnostic process, as well as indicate the need for specialized dermatology referrals to address detrimental quality of life impacts related to skin concerns.
  Megan Morand PMID 35306607	EXPLORING MOTIVATIONAL FACTORS TO PURSUE GENETIC COUNSELING AND TESTING IN ADOLESCENT AND YOUNG ADULT CANCER PATIENTS Megan Morand Advisory Professor: Jessica Corredor, MS, CGC Adolescent and young adult (AYA) cancer patients face a unique set of challenges when navigating cancer treatment and survivorship. For many patient populations, motivational factors to pursue genetic counseling/testing have been described, but these motivational factors in AYA cancer patients have yet to be explored. The goal of this study was to describe AYA cancer patients’ decision-making process, including motivational factors and barriers as it relates to genetic counseling/testing. We conducted a qualitative study consisting of semi-structured interviews with 30 individuals from the AYA Program at MD Anderson Cancer Center who attended or were referred to a genetic counseling appointment. Data analysis showed that motivational factors for patients who attended and/or were referred but did not attend a genetic counseling appointment include learning about genetic counseling, family, gaining information, affordability, and easing worry. For those who were referred but did not attend their genetic counseling appointment, the following barriers emerged as themes: scheduling or other priorities, worry, and cost. The majority of those who did not attend their appointment expressed that genetic counseling was something they would pursue eventually. Our data indicated that AYAs have similar motivational factors of other patient populations, but their younger age of diagnosis alters the lens of how these factors affect patient decision making. Additionally, while there are barriers limiting access to genetic counseling/testing, they do not decrease the interest in genetic testing/counseling for most patients.
  Rosemary Rogers	SPECTRUM AND INCIDENCE OF PRIMARY AND THERAPY-RELATED HEMATOLOGIC MALIGNANCIES IN INDIVIDUALS WITH BRCA1 AND BRCA2 PATHOGENIC VARIANTS Rosemary Rogers Advisory Professor: Courtney DiNardo, MD, MSCE Therapy-related myeloid neoplasms (t-MN) are rare and deadly hematologic malignancies that develop following exposure to cytotoxic therapies such as radiation, chemotherapy, and poly (adenosine diphosphate-ribose)-ADP polymerase (PARP) inhibitors. Preliminary evidence suggests that germline BRCA1 and BRCA2 pathogenic and likely pathogenic (P/LP) variants may increase susceptibility to t-MNs due to the genes’ established role in DNA damage response. There is also evidence that individuals with BRCA1/2 P/LP variants may be more susceptible to developing primary hematologic malignancies. We reviewed medical records of 706 individuals with BRCA1/2 P/LP variants to assess hematologic malignancy diagnoses and t-MN development. Our study population was 5.1% male and 94.9% female, 58% had BRCA1 P/LP variants and 42% had BRCA2 P/LP variants, and the majority (59.92%) identified as Caucasian. Twenty-one hematologic malignancies were identified (2.97%): non-Hodgkin lymphoma in 9/706 individuals (1.27%), chronic myeloid leukemia and multiple myeloma each in 2/706 individuals (0.28%), respectively, and acute myeloid leukemia, unspecified leukemia, and Hodgkin lymphoma each in 1/706 individuals (0.14%). Therapy-related myeloid neoplasms were seen in 5/706 individuals (0.71%), a significantly higher incidence than 0.13/100,000 (0.0013%) observed in the general population (p-value: 0.000001). The estimated 20-year risk of t-MN development is 2.11% (95% CI 0.74 – 5.96). This study supports the assertation that germline BRCA1/2 P/LP variants increase the risk of t-MNs.
  Kathleen Shields PMID 36595722	GENETICS IN THE NICU: NURSES’ PERCEIVED KNOWLEDGE AND DESIRED EDUCATION Kathleen Shields Advisory Professor: Kathryn Gunther Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation as well as disease. Recently, studies have described the accumulation of multiple CNVs as a disease modifying mechanism. While it has been characterized how additional CNVs may play a role in phenotype, in which ways and to what extent sex chromosomes are involved has not been fully described. We performed a secondary data analysis using the DECIPHER database on 2,273 de-identified individuals with 2 CNVs. CNVs were designated primary and secondary based on our criteria and characteristics of both CNV groups were described. Further analysis was performed identifying differences in CNVs on the sex chromosomes vs autosomes. We found that CNVs on the sex chromosome have a significant difference compared to autosomes when comparing median size (p=0.013), pathogenicity classifications (p<0.001), and variant classification (p=0.001). We identified chromosome combinations for primary and secondary CNVs, and identified the X chromosome was the most common site for a secondary CNV. Additionally, we observed the plurality of secondary CNVs fell in the same chromosome as the primary CNV. From this study, we can conclude that the X chromosome is the most common site for secondary CNVs in a clinical setting. Identification of chromosome combinations for primary and secondary CNVs is essential in explanation of complex phenotypes and highlights areas of importance of the human genome.

• 2020

  Kaitlyn Amos PMID 34826351	INFLUENCE OF GENETIC COUNSELOR PERSONAL OR FAMILY MEDICAL HISTORY ON GENETIC COUNSELING SPECIALIZATION AND PRACTICE Kaitlyn K. Amos MS Advisory Professor: Claire Singletary, MS, CGC A personal or family medical history inherently becomes part of a genetic counselor’s life story. Yet the degree to which a counselor’s experience influences his or her specialty choice and their psychosocial practice is unexplored. A medical diagnosis may foster a counselor’s capacity for greater empathy, understanding and rapport-building self-disclosure. Conversely, it could lead to interruptive countertransference, compassion fatigue, and eventually burnout. However, research has not specifically investigated this intersection. Therefore, the aim of this study was to explore the impact of a genetic counselor’s personal or family medical history on his or her choice of practice area, as well as the perceived impact on their psychosocial work within sessions. Members of the National Society of Genetic Counselors were recruited to complete an anonymous online survey sent via a research recruitment email. Of the 69 survey respondents that met inclusion criteria, 23 volunteered for and completed subsequent telephone interviews. Open-ended responses to the interview questions were transcribed and analyzed by the principal investigator using inductive analysis. Interview participants were more likely to be attracted to a specialty possessing overlap with their medical history (n=15) and attributed many of their psychosocial strengths to their personal and/or family medical experience, such as increased empathy and a more expansive scope of how they cared for the patient (n=21). However, many counselors indicated that their medical histories did not frequently influence their practice, with 14 participants initially denying or downplaying use of self-disclosure. Contradictory to their assertions, the majority of participants (n=19) gave at least one example of self-disclosure, whether indirect, prompted, support-motivated, or direct. Importantly, 20 participants named or illustrated countertransference. This study highlights that while medical histories can become a positive asset in a genetic counselor’s care for patients, they require a counselor’s diligent attentiveness to honest self-reflection.
  Wendi Betting	FACTORS THAT IMPACT UPTAKE OF CARRIER SCREENING BY MALE REPRODUCTIVE PARTNERS OF FEMALE PRENATAL PATIENTS Wendi Nicole Betting, BS Advisory Professor: Meagan Choates, MS, CGC Carrier screening is a genomic technology that is used to identify individuals who are carriers of autosomal recessive conditions. Despite published recommendations, the majority of male partners do not complete carrier screening after their female partner is identified to be a carrier. Previous studies have examined reasons why women elect or decline carrier screening, but there have been few published studies that examine factors that influence a male partner’s decision to elect or decline carrier screening, particularly when the female has been identified as a carrier. The aim of the study was to determine the factors that influence the uptake of carrier screening in male partners at several clinics within an academic medical center. Data was ascertained via a novel survey. Of the 98 patients included in the analysis, more than half of the male partners did not attend the initial counseling session (57/98, 58%), but the partner being present at the initial genetic counseling session was significantly associated with his uptake of carrier screening (p=0.001). The only other significant factor included the male partner placing increased importance on wanting to be able to plan for the future (p= 0.006). Of the couples where the female was identified to be a carrier (n=21), 18 (86%) of them indicated that the male partner would pursue screening if the female screened positive. However, only 5 males ultimately completed carrier screening (28%). The study confirms that despite published recommendations and original intentions of the patient and/or her partner to follow such recommendations, the majority of male partners are not completing carrier screening after their female partner screens positive for an autosomal recessive condition. Future studies should examine barriers to partner screening and investigate methods to increase the utility of prenatal carrier screening.
  Sarah Burke PMID 33550665	GENETIC COUNSELORS’ APPROACHES TO DIRECT-TOCONSUMER GENETIC TESTING FOR HEREDITARY BREAST CANCER Sarah Burke, B.S. Advisory Professor: Maureen Mork, M.S., C.G.C Given the increasing availability of health-related direct-to-consumer genetic testing (DTC-GT) and third-party interpretation (TPI) services, it is likely that genetic counselors (GCs) will continue to encounter consumers that require follow-up counseling for their results. The National Comprehensive Cancer Network recommends clinical-grade genetic testing to confirm commercial results; however, the type of testing that GCs select remains uncharacterized. Therefore, we aimed to describe the specific recommendations that cancer GCs make for confirmatory genetic testing in probands who have already obtained DTC-GT results or TPI data that reported a BRCA1/2 pathogenic variant. We recruited 80 GCs specializing in hereditary cancer and administered a survey that assessed their testing strategy for probands from three hypothetical case scenarios with variable personal and family histories of cancer. The majority of participants would recommend confirmatory clinical-grade genetic testing for both probands’ DTC-GT results and TPI data (77/80, 96%). For probands with a personal diagnosis of breast cancer and a DTC-GT result for an Ashkenazi Jewish BRCA1/2 founder mutation, participants were more likely to recommend targeted testing (single-site or comprehensive BRCA1/2 analysis) (30/77, 39%, p < 0.01). In scenarios where probands had DTC-GT results but lacked a personal and/or family history suggestive of hereditary cancer, and in all scenarios where the probands had positive TPI data for a BRCA1/2 variant, most GCs would recommend a multi-gene panel. Our results show that GCs are unified in their practice of recommending confirmatory genetic testing, although the selected clinical-grade test varies depending on the proband’s cancer history and type of commercial testing they obtained. As the market for DTC-GT expands and this patient population continues to grow, genetic counselors must continue to be knowledgeable on this topic.
  Caroline Bertsch	THE COURSE OF ACUTE STRESS DISORDER AND POST TRAUMATIC STRESS DISORDER IN PARENTS WITH INFANTS IN THE NEONATAL INTENSIVE CARE UNIT Caroline Suzanne Bertsch, BA Advisory Professor: Jennifer Czerwinski, MS, CGC NICU parents have up to a 60% chance to develop acute stress disorder (ASD) and/or post-traumatic stress disorder (PTSD) during or after their baby’s NICU stay. Emotional and demographic factors contributing to ASD/PTSD have been previously identified. Although support factors desired by NICU parents have been described, it has not yet been determined how the presence or absence of these desired support factors may impact the development of ASD/PTSD. English and Spanish speaking parents over the age of 18 were eligible to participate in a survey that assessed stress, coping and support in the NICU. Participants also completed a validated PTSD checklist tool for the DSM-5 (PCL-5). Wilcoxon rank-sum test and Mann-Whitney U were used to analyze categorical data between groups. In total, 31% of parents qualified with high-risk scores on the PCL-5 indicating a provisional diagnosis of ASD or PTSD. Education level of parent and reason for NICU stay including birth defects and genetic conditions, were not found to be associated with increased PTSD risk. Factors that were found to be associated with increased PTSD risk include desire for an in-hospital support group, desire for increased time with the baby’s care team, and desire for education on how to care for their baby after the NICU. Parents also indicated reasons for their fears, best and hardest days in the NICU. Parents who identified a fear of uncertainty were more likely to have lower PCL-5 scores, indicating a potential protective factor for parents when uncertainty is recognized and accepted. Findings suggest that NICUs should consider a multidisciplinary approach to communicate with families. And, while all parents should be offered support in the NICU regardless of medical concerns their baby is experiencing, anticipatory guidance about future plans for the baby may be of substantial benefit to parents.
  Aranza Gonzalez Cendejas	IMPLEMENTATION OF GENETIC CARRIER SCREENING IN THE OB POPULATION: HEALTHCARE COST IMPACT AND RECOMMENDATION ADHERENCE. Aranza Gonzalez Cendejas, B.S. Advisory Professor: Rebecca D. Carter, MS, CGC Background. The recent increases in availability of and demand for genetic testing have been observed alongside concerns regarding the appropriate ordering of such tests by providers, and subsequent unnecessary costs to the healthcare system. Professional organizations, such as ACOG and ACMG, develop guidelines to aid providers in ordering appropriate genetic testing. In this study, the ordering of carrier screening by obstetricians and genetic counselors was used to determine if duplicate genetic testing was taking place at a large academic institution along with adherence to ACOG and ACMG carrier screening guidelines. Methods. A retrospective chart review of primigravida and multigravida women seen in January 2019 at a large academic institution in Houston, Texas was conducted. The study sample was obtained by reviewing ultrasound and genetic counseling schedules during the study period. A total of 503 charts were reviewed. Three patients were excluded from the duplicate screening analysis since they were nulliparous. Out of the remaining 500 patients, two did not have their ethnicities recorded in the medical record; therefore, they could not be included in the ethnicity demographics. Furthermore, one of these patients had carrier screening done with an obstetrician but she was excluded from the secondary analysis since her ethnicity could not be determined. Descriptive statistics were used to characterize data. Results. The percentage of patients who underwent duplicate carrier screening in January 2019 was 16.2% (51/314). Out of these 51 duplicate carrier screening tests, 24 of them were determined to be inappropriate. The estimated cost of inappropriate duplicate carrier screening, derived from the CMS’ Clinical Diagnostic Laboratory Fee Schedule, was $6,382.12. Provider adherence to ACOG/ACMG recommended carrier screening guidelines was 31.4% (86/274). Conclusions. This study found that duplicate carrier screening was ordered at a large academic institution by both genetic counselors and obstetricians, resulting in unnecessary cost burden to the healthcare system. This study also concluded that ACMG/ACOG carrier guidelines are not routinely followed by ordering providers at this academic institution.
  Addison Johnson PMID 36209474	ASSESSING PATIENT ATTITUDES TOWARD GENETIC TESTING FOR HEREDITARY HEMATOLOGIC MALIGNANCY Addison Quinn Johnson, B.S. Advisory Professor: Sarah A Bannon, M.S. Since 2003, more than 15 genes have been identified to predispose to hereditary hematologic malignancy (HHM). Although the diagnostic yield of germline analysis for leukemia is similar to solid tumors, referral for genetic evaluation in adults with leukemia is underperformed. Identifying HHM is important for prognostication, treatment, and donor selection for hematopoietic stem cell transplant. No studies have examined leukemia patients’ attitudes toward genetic testing for HHM. This study aimed to assess leukemia patients’ attitudes toward genetic testing and elicit current perceived distress due to a leukemia diagnosis. Data were elicited through an electronic survey sent to 5,513 patients diagnosed with a common acute or chronic leukemia, myelodysplastic syndrome, or aplastic anemia. Principal component analysis (PCA) was used to analyze patient attitudes; distress was measured through the Impact of Event Scale-Revised (IES-R). Associations of distress and attitudes toward genetic testing were assessed through multivariable regression analysis. 19.8% (1093/5513) of eligible respondents completed the survey. The majority reported interest in genetic testing for HHM (77%) and would choose to have genetic testing (78%). Slightly over half identified worry about cost (58%) or health insurance coverage (61%) of genetic testing as possible barriers. PCA analysis produced seven components regarding patient attitudes, identifying relevant themes of 1) interest in genetic testing for HHM, 2) impact on leukemia treatment, 3) discrimination and confidentiality, 4) psychosocial and familial impacts, and 5) cost of testing. The majority reported low distress with a median cumulative IES-R score of 7 (range 0-86). Furthermore, 18.5% (202/1093) of respondents reported a cumulative score of zero, indicating no distress. This large cohort of leukemia patients at various stages of treatment report overwhelming interest in genetic testing, concern about few barriers related to genetic testing, and relatively low distress due to a leukemia diagnosis.
  Lukas Kruidenier	GENETIC TESTING IN PREGNANCIES WITH ULTRASOUND ANOMALIES: EXPLORATION FACTORS THAT INFLUENCE UPTAKE Lukas D. Kruidenier Advisory Professor: Blair Stevens MS, CGC Prenatal genetic diagnostic and screening tests have been rapidly evolving over the past decade with the introduction and expansion of cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient motivations for or against expanded genetic testing options is paramount, therefore this study aimed to ascertain the patient perspective. Ninety-nine patients with an ultrasound anomaly participated in an anonymous, cross-sectional, research survey assessing coping strategies, factors influencing the genetic testing decision, and demographic variables. After multivariable analysis, the desire for directive counseling regarding testing was correlated with increased uptake of diagnostic tests (RR 1.52, 95% CI 1.02-2.27). Conversely, higher perceived procedure-related risk reduced uptake of diagnostic testing (RR 0.24, 95% CI 0.10-0.56). Mitigating the risk of genetic testing through expanded cfDNA options will likely further shift how patients evaluate genetic testing decisions in the future. Simultaneously, this raises concerns about the potential for routinization of genetic screening which can hinder informed consent and personalized care. The majority of patients (95%) had some form of genetic testing, despite over 20% not expressing desire for prenatal knowledge of a genetic condition, and 36% not feeling it would impact the medical management of the pregnancy. Mistrust of the medical team was significantly correlated with screening and diagnostic decisions, but the relative degree of effect could not be ascertained. More individuals with high school education or less (23% versus 5% with at least some college education) stated that they would not want the prenatal team to know if there was a genetic condition, whereas race/ethnicity was not significant. Therefore, it appeared that mistrust tracked in our cohort with lower educational attainment rather than race/ethnicity. This study shows that even with new testing options, the procedure-related risk of diagnostic testing remains a powerful influence on the uptake of genetic testing. Mitigating the perceived risk of genetic testing will likely increase the complexity of the decision-making process for patients and the need for clinicians to provide patient-centered counseling to facilitate these decisions.
  Bradley Power	INVESTIGATING MEDICAL EXAMINERS’ PRACTICES: GENETIC EVALUATION FOR FATAL ACUTE AORTIC DISSECTION Bradley Philip Power, BA Advisory Professor: Krista J. Qualmann, MS, CGC Acute thoracic aortic dissection (TAD) is a life-threatening event with a hereditary component. Currently, pathogenic variants in 11 genes associated with aortic aneurysm and dissection predispose to a heritable form of disease thereby conferring an increased risk for TAD. Genetic testing plays a pivotal role not only in diagnosis, but also in risk stratification for relatives and medical management to prevent premature death from dissection. Due to its high fatality rate, medical examiners and coroners (ME/Cs) may be the first to identify TAD cases and initiate genetic testing for the decedent and at-risk relatives. ME/Cs were surveyed using three clinical vignettes detailing two cases of early-onset TAD, one with features of Marfan syndrome and another without, and a later onset TAD case. Sixty respondents reported their likelihood to complete various actions related to their level of suspicion for a genetic cause and recommendations for relatives (e.g. collect sample for testing, recommend imaging for relatives). Additionally, respondents were queried about current practices and perceived barriers regarding genetics evaluations for TAD. Reported practices were compared to recommendations established by the National Association of Medical Examiners (NAME). Respondents were significantly more likely to perform all proposed actions in the two early-onset cases versus the late-onset, non-syndromic case. ME/C’s were significantly more likely to speak with the decedent’s next-of-kin (NOK) about increased TAD risk and refer for genetic counseling in the early-onset syndromic vignette compared to early-onset nonsyndromic case. Experience, approximated by the number of TAD cases seen at practicing institution, did not impact respondents’ choices, but access to a genetic counselor did. Cost of genetic testing was the most frequently reported barrier, followed by contacting NOK. Alignment with NAME guidelines varied, converging around sample collection, but diverging when communicating with NOK. Our results suggest that ME/Cs recognize the utility of postmortem genetic testing and the clinical risk factors for hereditary TAD. However, ordering genetic testing and recommending aortic imaging for at-risk relatives is inhibited by concerns regarding cost of genetic testing or access to NOK. Increasing ME/C’s access to genetic counseling services will be important for postmortem genetics evaluations in this population.
  Emily Stiglich	GENETIC COUNSELORS’ EXPERIENCES WITH AND APPROACHES TO DISCORDANT GENOTYPIC AND PHENOTYPIC SEX DETECTED VIA NON-INVASIVE PRENATAL TESTING Emily Catherine Stiglich, BS Thesis Chair: Victoria F Wagner, MS, CGC As the use of non-invasive prenatal testing becomes more ubiquitous during pregnancy, genetic counselors (GCs) will see clients more frequently for discordant sex identification via non-invasive prenatal testing (NIPT-DSI). Thus, it is imperative to investigate what GCs consider important when counseling about NIPT-DSI and assess how GCs perceive their role in such cases. Prenatal and pediatric GCs were surveyed regarding previous experiences of NIPT-DSI, comfort levels of topics relating to NIPT-DSI, and perceived importance of potential discussion topics in a counseling session (n = 108). The survey consisted of two vignettes, presenting cases of NIPT-DSI identified prenatally in one scenario and postnatally in the other scenario. Sixtynine percent of GCs surveyed reported past experiences with NIPT-DSI (n = 75), with 74% of GCs that see prenatal patients (n = 64) and 45% of GCs that work in pediatrics (n = 22) reporting such experiences. GCs generally expressed comfort regarding the discussion of differential diagnosis, discordant NIPT results, sharing information with others, and recurrence risk, but discomfort regarding the discussion of genital surgeries. GCs ranked discussion of differential diagnosis, testing options, and parental support as the most important topics for an initial NIPT-DSI genetic counseling session. Additionally, while most participants indicated that they would offer genetic testing and referrals to other specialties in the hypothetical scenarios, there was little agreement between counselors of which testing and referral options to include. Overall, these results indicate GCs do encounter NIPT-DSI cases in their clinical practice, GCs may feel uncomfortable discussing certain topics that may arise in a session, such as genital surgeries, and there are inconsistencies in the way that GCs would approach similar cases of NIPT-DSI. Therefore, targeted education for GCs regarding NIPT-DSI and related topics, as well as practice guidelines specific to GCs for cases of NIPT-DSI may help ensure that patients with similar indications are receiving the same quality of care.
  Autumn Vara PMID 37231787	FREQUENCY OF COPY NUMBER VARIANTS INVOLVING THE SEX CHROMOSOMES IN A CLINICAL SETTING Autumn Elizabeth Vara, B.S. Advisory Professor: David F. Rodriguez-Buritica, M.D. Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation as well as disease. Recently, studies have described the accumulation of multiple CNVs as a disease modifying mechanism. While it has been characterized how additional CNVs may play a role in phenotype, in which ways and to what extent sex chromosomes are involved has not been fully described. We performed a secondary data analysis using the DECIPHER database on 2,273 de-identified individuals with 2 CNVs. CNVs were designated primary and secondary based on our criteria and characteristics of both CNV groups were described. Further analysis was performed identifying differences in CNVs on the sex chromosomes vs autosomes. We found that CNVs on the sex chromosome have a significant difference compared to autosomes when comparing median size (p=0.013), pathogenicity classifications (p<0.001), and variant classification (p=0.001). We identified chromosome combinations for primary and secondary CNVs, and identified the X chromosome was the most common site for a secondary CNV. Additionally, we observed the plurality of secondary CNVs fell in the same chromosome as the primary CNV. From this study, we can conclude that the X chromosome is the most common site for secondary CNVs in a clinical setting. Identification of chromosome combinations for primary and secondary CNVs is essential in explanation of complex phenotypes and highlights areas of importance of the human genome.