PRENATAL TESTING DECISIONS AND MOTIVATIONS IN PREGNANCIES CONCEIVED VIA IN VITRO FERTILIZATION
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.
ANALYSIS OF HUNTINGTON DISEASE CAREGIVER QUALITY OF LIFE USING THE ENROLL-HD POPULATION
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.
INVESTIGATING THE ATTITUDES OF THE D/DEAF COMMUNITY TOWARDS GENETIC COUNSELING AND THE UTILIZATION OF GENETIC SERVICES
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.
PERCEPTIONS AND ROLES OF GENETIC COUNSELORS IN PERINATAL PALLIATIVE CARE: WHERE ARE WE NOW?
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.
PARENTAL STRESS IN TUBEROUS SCLEROSIS COMPLEX
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.
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.
STATUS OF ABORTION CURRICULUM IN GENETIC COUNSELING: SURVEY OF GRADUATE PROGRAMS AND RECENT GRADUATES IN THE UNITED STATES
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.
INVISIBLE DISABILITIES, ACADEMIC CAPITAL AND COMPETITIVENESS OF GENETIC COUNSELING APPLICANTS
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: 18.104.22.168]. 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.
ASSESSING THE IMPACT OF CAMP PHEVER ON BLOOD PHENYLALANINE LEVELS
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.