Genetic Counseling Thesis Abstracts

• 2021

  Thesis Abstracts are on the way!

• 2020

  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	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	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.
  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	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.

• 2019

  Alexa Bream	Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia Alexa G. Bream, BA Advisor: David Rodriguez-Buritica, MD, FACMG Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary to an inability to properly break down glycogen and to perform gluconeogenesis. Complex management is then necessary for patients and includes dietary modification, frequent cornstarch usage, and evaluation for additional complications such as hepatic adenomas, hypertriglyceridemia, and kidney disease. Previous studies have found lower scores in quality of life and body image in GSDIa patients; however, the specific factors influencing this relationship remain unknown. In this study, 24 adult participants (n=24) with glycogen storage disease type Ia completed a survey including measures of health-related quality of life, body image, and metabolic control. Results found that quality of life was significantly lower than the general population on both the physical and mental component scores (t=-3.11, p=0.005; t=-2.21, p=0.03). Additionally, body image was significantly lower on all subscales: Weight (t=-5.88, p<0.001), Appearance (t=-5.67, p<0.001), and Attribution (t=-2.38, p=0.02). In general, significance was not reached when examining roles that certain metabolic and demographic factors play in health-related quality of life and body image. Therefore, the relationship between these factors is most likely complex. Overall, the current study confirms previous findings of lower health-related quality of life and body image in this population and provides preliminary evidence on potential factors influencing this phenomenon. Advisory Committee: Heather Saavedra, MS, RD/LD Leslie Dunnington, MS, CGC Syed Hashmi, MD, MPH, PhD Victoria Wagner, MS, CGC David Rodriguez-Buritica, MD, FACMG
  Peyton Nunley PMID 33128384	Exploring the Potential Yield of Prenatal Testing by Evaluating a Postnatal Population with Structural Abnormalities Peyton Bree Busby, BS Advisor: Blair K. Stevens, MS, CGC After identification of one or more structural abnormalities in a fetus, pregnant women are offered a host of different testing options to identify a possible genetic cause for the structural abnormality(ies). When considering what type of test to undertake, there is limited information on the diagnostic yield of the varying testing options. Some women may miss an opportunity to gain the information they are seeking or make a less informed decision when they choose a testing option after identification of a structural abnormality due to this lack of information. This study aimed to identify the potential diagnostic yield of all currently available prenatal testing options in the presence of a structural abnormality through a retrospective chart review of a postnatal population of infants with structural abnormalities. Of 791 patients with at least one structural abnormality, 691 patients underwent genetic testing and 222 had a genetic aberration that explained their phenotype. Chromosomal microarray had the highest potential diagnostic yield across the entire cohort and among individuals with multiple structural abnormalities, 26.8% (95% CI: 23.5 - 30.3) and 26.7% (95% CI: 14.2 - 44.4) respectively, which reached significance (p <0.001, p = 0.024) compared to all of the other prenatal screening and diagnostic testing options. In the isolated cohort, whole exome sequencing had a higher potential diagnostic yield of causative pathogenic aberrations, followed by chromosome microarray. Expanded non-invasive prenatal testing (NIPT with microdeletions and whole genome NIPT) had a higher potential yield than traditional NIPT. Whole genome NIPT also had a comparable yield as a karyotype, although this did not reach statistical significance. While interesting, it is important to consider the limited data available on expanded NIPT panels compared to the robust studies of traditional NIPT and how this might affect these results and post-test counseling regarding positive screening results. This study provides further evidence for the use of chromosomal microarray for the highest potential diagnostic yield in genetic testing after identification of one or more structural abnormalities. Advisory Committee: Myla Ashfaq, MS, CGC Laura Farach, MD, FACMG S. Shahrukh Hashmi, MD, MPH, PhD Anthony Johnson, DO Claire Singletary, MS, CGC Blair Stevens, MS, CGC
  Georgiann Garza PMID:  32302061	Exploring Experiences & Expectations of Prenatal Healthcare and Genetic Counseling/Testing in Immigrant Georgiann Garza, BS Advisory Professor: Sarah J. Noblin, MS, CGC In recent years, the Latino population of the United States has continued to increase, but the specific needs of Latinos in the genetic counseling setting have yet to be explored. Genetic counselors tailor sessions to the needs of the patient, and more information regarding general attitudes of a population can assist in building rapport. We aimed to investigate the relationship between acculturation, prenatal care, genetic testing experiences, and expectations for their prenatal care in an immigrant Latino population. A total of 20 Spanish-speaking, pregnant Latinas from various Latin American countries were interviewed after completing a prenatal genetic counseling session. The semi-structured phone interview included questions about the participants’ experiences with genetic counseling/testing, prenatal health care in their home country, their current prenatal care in the United States, and information they feel is important to know during their pregnancy. The study showed no associations between acculturation and prenatal care and genetic counseling/testing experiences. However, six major domains were identified throughout the topics explored with the participants. Overall, we found that immigrant Latinas desire to know prenatal risk information as it can help them prepare, relieve guilt, and help make screening/testing/family planning decisions. Additionally, information discussed in prenatal genetic counseling sessions, such as complex genetic information, can be internalized by these women and utilized to make decisions about their care. Women reported the genetic counselor helped provide a sense of autonomy and empowerment to make their own decisions regarding prenatal screening/testing. The participants also spoke about stressors unique to the immigrant population, most notably being away from their older children and other family members. Identifying themes about the lived experience of this population can help genetic counselors better address patient needs, focus contracting in a session around their possible guilt and/or isolation, and identify women who could benefit from group prenatal care, such as delivered via Centering, support groups, or referrals to social work. Advisory Committee: Priscila Delgado Hodges, MS, CGC Jennifer Hoskovec, MS, CGC Guadalupe Palos, BSc, MSW, DrPH Chelsea Wagner, MS, CGC Nikolaos Zacharias, MD, FACOG
  Emily Thoreson PMID 32432815	The impacts of insurance and billing considerations on the practice and attitudes of genetic counselors Emily Krosschell, B.S. Advisor: Lauren Murphy, MS, CGC Genesurance counseling has been identified as an integral part of many genetic counseling sessions, but little is known about the workflow impacts and genetic counselor perceptions of genesurance-related tasks. In this study, we aimed to characterize how insurance and billing considerations for genetic testing are being incorporated into genetic counselors’ practice; as well as describe current attitudes and challenges associated with their integration. An electronic survey was sent by email to members of the National Society of Genetic Counselors (NSGC). A total of 325 genetic counselors that provided direct patient care were included in data analysis. Results showed that the frequency and timing of various insurance and billing related tasks were not consistent among genetic counselors, even those practicing in similar settings. Inadequate training to complete tasks was reported by 64% of respondents, and 48% reported a lack of resources. Additionally, only 38% of respondents agreed that insurance and billing related tasks were within the scope of the genetic counseling practice, and there was little consensus on who genetic counselors believe is the most appropriate person to complete these tasks. When asked how genesurance considerations affected job satisfaction, 85% of respondents reported a negative impact. This study identifies an inconsistent genesurance workflow among genetic counselors, a lack of consensus on who should be responsible for genesurance tasks, and several challenges associated with completing these tasks. Advisory Committee: Lauren Murphy, MS, CGC, Chair Chelsea Wagner, MS, CGC Jennifer Lemons, MS, CGC Laura Farach, MD, FACMG Kate Wilson, MS, CGC Ashley Woodson, MS, CGC
  Allison Moats	Hypoglycemia in Mitochondrial Disorders Allison R. Moats, BS, MA Advisor: Myla Ashfaq, MS, CGC The electron transport chain (ETC) in mitochondria functions to produce energy in the form of adenosine triphosphate (ATP). Defects in the mitochondrial or nuclear DNA that codes for components of the ETC lead to mitochondrial disorders (MTDs). MTDs are multi-system conditions affecting the heart, muscles, and especially brain. The endocrine system is commonly affected in MTDs, and diabetes and hyperglycemia are established secondary diagnoses. Rates of non-iatrogenic hypoglycemia have not been studied in individuals with MTDs. This study aims to investigate the frequency of hypoglycemia in patients with MTDs. Individuals diagnosed with a ‘definite’ or ‘probable’ MTD according to the modified Walker criteria at The University of Texas, Mitochondrial Center of Excellence were included in this study. Exclusion criteria included diagnosis of diabetes or adrenal insufficiency or past or present use of hydrocortisone or prednisone. Patient charts were reviewed retrospectively for blood glucose values. Individuals with at least two values were recorded. Patients were classified as neonatal (≤28 days of life) or non-neonatal (>28 days of life) at the time of measurement. Data analysis included descriptive statistics, mixed-model regression, and two-sample tests of proportion. All data analysis was done using Stata® (v.13, College Station, TX). Statistical significance was assumed at p<0.05. Of the 116 patients included in this study, 22 (18.97%) experienced at least one episode of hypoglycemia. This is significantly higher (p<0.05) than the 6% general population rate of hypoglycemia. Neonatal readings were also found to be 30mg/dL lower than non-neonatal readings, on average, a significant difference (p<0.05). Patients with MTD are more likely to experience hypoglycemia compared to the general population with especially low blood glucose readings during the neonatal period. This demonstrates hypoglycemia may be contributing to the high rate of neurological symptoms reported in MTDs and supports that MTDs should be in the differential diagnosis in cases of hypoglycemia, especially during the neonatal period. Additional and earlier monitoring could reduce negative outcomes such as decreased cognitive outcome, developmental delays, seizures, or brain damage in patients with MTDs. Advisory Committee: S.S. Hashmi, MD, MPH, PhD Mary Kay Koenig, MD Hope Northrup, MD Claire N. Singletary, MS, CGC David Rodriguez-Buritica, MD
  Samantha Montgomery	Identifying Interest in and Barriers to Psychiatric Genetic Counseling Samantha Montgomery, B.S. Advisor: Lauren Murphy, M.S., CGC Mental illness is common in the United States and genetic counseling for psychiatric indications can help individuals understand multifactorial inheritance, recurrence risk estimates, and identify ways to protect their future mental health. Despite interest in and efficacy of the service documented in populations outside of the United States, individuals with personal and/or family histories of psychiatric conditions are very rarely accessing psychiatric genetic counseling services. The purpose of our study was to identify interest in and barriers to psychiatric genetic counseling with the hopes of better characterizing this population and improving access to this beneficial service in the future. An online survey was developed to assess exposure to genetic counseling, perceived causes of psychiatric conditions, and level of interest in, reasons for, and barriers to psychiatric genetic counseling. Individuals with self-reported personal and/or family histories of any mental illness were invited to participate via emails and advertisements to local Houston support groups, psychiatry and maternal fetal medicine clinics, and other platforms. Categorical variables were compared using contingency tests. Overall, 87% of respondents reported being extremely, very, or somewhat interested in psychiatric genetic counseling. There was no significant difference in the level of interest in psychiatric genetic counseling for individuals with a family history of serious mental illness, such as schizophrenia, when compared to those with a family history of any type of mental illness. Similarly, degree of relation and number of affected family members was not associated with significant differences in the level of interest. Any patient with a personal and/or a family history of any type of psychiatric condition(s) may be interested in and benefit from this service. The most common reasons for interest in psychiatric genetic counseling were “to understand more about the condition” and “recurrence risk” (71% and 66% of respondents respectively). The most common perceived barriers to psychiatric genetic counseling were “cost/insurance coverage” and “time” (80% and 38% of respondents respectively). This study provides important insight into this population, confirms interest levels reported by prior studies, and provides information for genetic counselors and other providers interested in increasing access to psychiatric genetic counseling. Advisory Committee: Lauren Murphy, M.S., CGC Jennifer Czerwinski, M.S., CGC Syed S. Hashmi, MD, MPH, PhD Thomas D. Meyer, PhD, LP Shannon Mulligan, MS, CGC Consuelo Walss-Bass, PhD
  Carol Nowlen	Identifying Pathogenic Variants in Hereditary Cancer Syndrome Genes via Tumor Molecular Profiling Carol Nowlen, BA Advisor: Molly Daniels, MS, CGC Tumor molecular profiling is often performed in order to direct cancer treatment options. However, because many of the genes analyzed on tumor molecular profiling overlap with genes known to be associated in the germline with hereditary cancer predisposition syndromes, tumor molecular profiling can unknowingly uncover germline predisposition to cancer development. In this study, we determined the number of patients with pathogenic variants (PVs) identified in BRCA1 and BRCA2 (BRCA1/2) via FoundationOne tumor molecular profiling at MD Anderson Cancer Center, then performed a retrospective chart review to determine the proportion of such patients that received germline testing and had germline PVs identified. We found that 3.78% (13/2,990; 95% CI 3.09-4.46%) of tumor-only testing reports identified PVs in BRCA1/2, 38.94% (44/113; 95% CI 29.95-47.93%) of patients with pathogenic variants in BRCA1/2 had germline testing, and 63.64% (28/44; 95% CI 49.42-77.85%) of patients with germline testing had germline PVs in BRCA1/2. Patients with cancer diagnoses related to BRCA1/2 were more likely to have had germline testing (72.73% of patients with testing had HBOC-related tumors vs. 36.23% of those without testing, p <0.001). Efforts to improve testing yield should focus on increasing awareness and availability of germline testing for advanced cancer patients with tumor-identified BRCA1/2 mutations in non-BRCA1/2 associated cancer types. Advisory Committee: Funda Meric-Bernstam, MD Jacqueline Harkenrider, MS, CGC Keyur Patel, MD, PhD Nadine Rayes, MS, CGC
  Cayleen Smith PMID 33103308	Termination For Fetal Anomaly: What is The Impact Of Genetic Counseling On Coping? Cayleen Smith, BS Advisor: Aarti Ramdaney, MS, CGC Pregnancy termination for fetal anomaly (TFA) is a unique experience that can cause women to develop long-term, complicated grief. Although a woman’s experience with her healthcare providers has been previously identified as an important factor in coping, studies have shown that many women report their healthcare as lacking to some extent. Given the overlap in patient needs and the practice scope of a genetic counselor (GC), this study aimed to examine how genetic counseling may impact coping as well as explore patient expectations of GCs pre- and post-TFA. An online survey, which included the Brief COPE and The Short Version of The Perinatal Grief Scale, was distributed among private, online support groups. Appropriate statistical analysis tools, such as the Wilcoxon rank-sum and t-test, were utilized for quantitative analysis of the 124 responses, and thematic coding was utilized for qualitative analysis. Of participants who underwent TFA within the last two years, women who saw a GC utilized active coping, planning, and positive reframing significantly more than women who did not see a GC (p=0.001, p=0.031, p=0.027, respectively). GCs were perceived to have a positive impact on coping when providing information, objective care, emotional support, support resources, and follow-up care; these practices encouraged confidence in decision-making and gave participants hope for the future. This study not only identified key counseling roles for GCs prior to a TFA, but also demonstrated that genetic counseling prior to TFA may be beneficial to patient coping. Further studies are warranted to explore the needs of a more diverse patient population and to identify appropriate genetic counseling training methods to support those patients pursuing TFA. Advisory Committee: Syed Hashmi, MD, MPH, PhD Jennifer Czerwinski, MS, CGC Victoria Wagner, MS, CGC Pamela Promecene, MD Irena Milentijevic, PsyD
  Angelica Starnes	Current Practices and Perspectives of Genetic Counselors and Reproductive Endocrinologists Regarding Transfer of Mosaic Embyros Angelica Palma Starnes, BS Advisor: Jennifer Czerwinski, MS, CGC With the recent transition in testing methodology used for preimplantation genetic testing for aneuploidy (PGT-A) from array comparative genomic hybridization to next generation sequencing, mosaic embryos are being identified more readily. Given the limited clinical guidance and information regarding outcomes after the transfer of mosaic embryos (TME), a mosaic test result can present challenging scenarios for providers and patients. The current landscape of this area of reproductive medicine must be described before a consensus can be determined and areas for improvement can be identified. This cross-sectional descriptive study aimed to define the current practices regarding TME as reported by prenatal and/or infertility genetic counselors (GCs) and reproductive endocrinologists (REs). In addition, it aimed to determine GCs’ and REs’ perspectives on patient education, informed consent, decision making and clinical guidance with regard to the TME. An invitation to participate in the electronic survey was distributed to GCs through the National Society of Genetic Counselors listserv and to REs via an email from the principal investigator. A total of 223 responses were analyzed consisting of 194 GCs and 29 REs. Data analysis showed that infertility GCs practices and perspectives were more consistent with REs than non-infertility GCs. However, regardless of specialty, responses showed little to no consensus among providers regarding their perspectives on this topic. Overall, respondents reported feeling more comfortable with pre-test PGT-A counseling compared to counseling about TME. Furthermore, a majority of respondents indicated that additional consensus and/or guidance is needed for several topics related to TME, such as when to discuss the possibility of mosaic embryos with patients, when the decision should be made whether or not to transfer mosaic embryos and prioritization when multiple mosaic embryos are available. These results support the urgent need for additional consensus and guidance regarding best practices when mosaic embryos are identified. Advisory Committee: Andria Besser, MS, CGC Jennifer Czerwinski, MS, CGC Sandra Darilek, MS, CGC Lara A. Friel, MD, PhD Syed Hashmi, MD, MPH, PhD
  Danielle Williams	Genetic Counselor Utilization and Interpretation of Somatic Tumor Testing in Evaluation for Lynch Syndrome Danielle Williams, BA Advisor: Maureen Mork, MS, CGC Lynch syndrome (LS) is a hereditary cancer predisposition syndrome characterized by increased risk for colorectal and uterine cancers. Individuals with pathogenic variants in the mismatch repair (MMR) genes (MLH1, MSH2/EPCAM, MSH6, PMS2) are diagnosed with LS and subsequently recommended to proceed with high risk screening protocols to increase prevention and early detection of LS-related cancers. Various tumor studies can help identify those at high risk for LS, but sometimes create uncertainty with discordant screening and germline results, leading to unexplained mismatch repair deficiency (UMMRD). Somatic testing of the MMR genes has created opportunities for resolving UMMRD, thus clarifying LS status and ensuring appropriate cancer surveillance. However, guidelines for such testing are currently limited. The purpose of this study was to examine current and hypothetical ordering practices of cancer genetic counselors for LS evaluation and to investigate participants’ interpretation of somatic MMR testing results. Two-hundred eligible participants were recruited through the National Society of Genetic Counselors listserv and answered questions regarding demographics, ordering practices, barriers to somatic MMR testing, theoretical patient scenarios, and need for further guidelines. Statistical analysis was done using Chi-square, Fisher exact, and Wilcoxon rank-sum tests while themes were identified from free-text responses. Most respondents did not include somatic MMR testing in the work-up for LS and did not routinely order this testing, but indicated interest in ordering this in conjunction with germline testing. The gap between preferred testing strategies and current ordering practices for somatic MMR testing may be due to reported laboratory and insurance-related barriers, particularly cost and coordination of tissue specimens. Nearly all individuals endorsed the need for additional guidelines for somatic MMR testing, which could provide support to reduce barriers, encourage insurance coverage, and allow for appropriate screening recommendations for patients and family members of those with UMMRD. Advisory Committee: Eduardo Vilar Sanchez, MD, PhD Syed Hashmi, MD, PhD, MPH Meagan Choates, MS, CGC Sarah Noblin, MS, CGC Maureen Mork, MS, CGC

• 2018

  Sarah Azam	PANEL GENETIC TESTING FOR PRIMARY BRAIN TUMORS Sarah Azam, M.S. Advisory Professor: Leslie Dunnington, MS, CGC Background. Currently, there are no genetic testing or genetic counseling referral guidelines for patients with a primary brain tumor (PBT). This population is largely understudied in terms of the family history, tumor grade, pathology, and genetic contribution. Our aim was to describe patient-specific characteristics and family histories across mutation positive, negative, and VUS cohorts based on cancer-panel genetic test results among patients with a PBT. Methods. Subjects were referred for multi-gene panel testing between March 2012 and June 2016. Clinical data was ascertained from requisition forms. The incidence of pathogenic mutations (including likely pathogenic), and variant of unknown significance were then calculated for each gene and/or patient cohort. Results. Almost all tumors were glial (n=293, 53%) or meningeal pathology (n=222, 40%). Age of diagnosis differed significantly between glial and meningeal tumors (p<0.001). Glial tumor grade was not predictive of a positive genetic testing result; however, trends showed more, high grade glial tumors yielding a positive result (46/116) than low grade tumors (5/22). Of 654 subjects, panel testing identified 104 individuals (16%) with mutations. Genes most frequently yielding a positive result were: CHEK2 (20/104), BRCA2 (13/104), PMS2 (10/104), TP53 (8/104), and APC (8/104). Of 165 patients with family history information provided, nearly all (n=157, 97%) reported a family history of some cancer. Conclusions. Further research is critical to establish testing criteria for PBTs, allowing appropriate identification of high-risk patients. Harboring a mutation can alter management and screening as individuals may be at risk for additional cancers.
  Taylor Beecroft	PATIENT ATTITUDES TOWARD GENETIC TESTING FOR INHERITED PREDISPOSITIONS TO HEMATOLOGIC MALIGNANCIES Taylor Alexandria Beecroft, B.S. Advisory Professor: Sarah Bannon, M.S. Although inherited predispositions to hematologic malignancies have previously been considered extremely rare, approximately 12 genes have been implicated in the last decade. Since individuals diagnosed with leukemia have not historically been considered for evaluation of inherited predispositions, genetic testing is underperformed in this population. This study used focus group discussions to explore the attitudes, motivations, and barriers to genetic testing for 23 patients with leukemia. Participants were found to have a positive regard for the utility of genetic testing, and were primarily motivated by concern for their family and a sense of altruism toward all leukemia patients. While drawbacks and barriers were difficult for participants to identify, a few individuals cited concerns about confidentiality of genetic information and discrimination based on test results. Participants unanimously agreed that the skin punch biopsy required for genetic testing in leukemia patients would not deter their decision to be tested. The findings from this study are valuable for guiding genetic counseling that best meets the specific needs of leukemia patients, and future studies will analyze how these issues are perceived by a larger and more diverse population of individuals with leukemia.
  Lauren Fleddermann PMID 30946507	CURRENT GENETIC COUNSELING PRACTICE FOLLOWING POSITIVE NON-INVASIVE PRENATAL TESTING FOR SEX CHROMOSOME ABNORMALITIES Lauren Elizabeth Fleddermann, BA Advisory Professor: Claire Singletary, MS The purpose of this study was to describe current prenatal and pediatric genetic counseling practice following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). While test sensitivity and specificity for SCA remains high, the positive predictive value (PPV) is lower than seen for Trisomy 21 due to natural loss of the X chromosome from maternal cells during aging, confined placental mosaicism, and undiagnosed maternal sex chromosome abnormality. Except for 45,X, individuals with SCA usually have no ultrasound or postnatal physical findings making it difficult for counselors to determine best follow-up practice. This study used a prospective anonymous questionnaire to survey 176 clinical prenatal and pediatric genetic counselors. Greater than 70% of pediatric respondents and >80% of prenatal respondents were somewhat or extremely comfortable counseling patients about SCAs. However, prenatal respondents in the field for <5 years were significantly less comfortable for every condition except 45, X (p<0.02). A majority of prenatal respondents always offered diagnostic testing (>88%), and anatomy ultrasound (~90%), but those always offering maternal karyotype (22-52%) and postnatal evaluation (28-87%) varied widely. Maternal karyotype offer was more likely if NIPT positive for 45,X or 47,XXX had normal diagnostic testing (p<0.023) or declined testing (p<0.019). Postnatal evaluation was more likely if diagnostic testing was declined (p<0.01). A majority of pediatric respondents always offered their patient a karyotype (>72%) but the percent always offering maternal karyotype (6-46%) varied widely with those positive for 45,X or 47,XXX more likely to be offered if there was a normal karyotype (p<0.048). While most counselors indicated consistently offering diagnostic testing and imaging, maternal testing and postnatal evaluation were offered with great variability. Therefore, there is a need for professional guidelines to help guide best clinical practice for patients with NIPT positive for SCA.
  Ellie Gould	EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS Helen Gould, M.S. Advisory Professor: Jennifer Czerwinski, M.S., C.G.C Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child. This role requires genetic counselors to be responsible and compassionate when approaching conversations about disability. With a lack of research on how the specific attitudes of genetic counselors toward disability impact clinical practice, we aimed to address this question. We examined different counseling content preferences within a genetic counseling session including medical and diagnostic information, lifestyle and social implications, emotional impacts and coping strategies. We determined if there is an association between preferred counseling method and implicit attitudes toward disability. Results from the study show that genetic counselors have a significantly stronger bias toward “abled” individuals compared to other individuals who have completed the disability implicit association test (IAT). Results reassure that personal experience with individuals with disabilities does not significantly impact IAT scores. There is, however, a significant difference in counseling methods between genetic counseling specialties. These differences may reflect a difference in how counselors prioritize information either from personal preference or based on perception of patient needs. The uniform bias observed across specialties may point to an underlying characteristic of the genetic counseling field either due to shared exposure to disability, self-selection or another factor still undetermined.
  Kate Mowrey PMID 30527288	THE PSYCHIATRIC IMPACT OF TUBEROUS SCLEROSIS COMPLEX AND UTILIZATION OF MENTAL HEALTH TREATMENT Kate Elizabeth Mowrey, B.S. Advisory Professor: Hope Northrup, MD Tuberous Sclerosis Complex (TSC) is a multi-system, neurocutaneous disorder with neuropsychiatric features known as TSC-associated neuropsychiatric disorders (TAND). While 90% of individuals with TSC have some TAND features, only 20% receive treatment, leading to a 70% treatment gap. This study evaluated perception of disease severity, presence of anxiety and depression, as well as the utilization and barriers towards mental health services among adults with TSC. Disease severity had a moderate and low-moderate association with anxiety and depression, respectively. Regardless of past utilization, respondents had a positive outlook towards the use of mental health services with the major barrier being cost.
  Jessica O'Shea PMID 32973963	ATTITUDES TOWARD UPDATED GENETIC TESTING IN PATIENTS WITH UNEXPLAINED MISMATCH REPAIR DEFICIENCY Jessica Kathleen Omark, BS Advisory Professor: Maureen Mork, MS, CGC Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair deficiency (UMMRD, also known as mutation-negative Lynch syndrome). Comprehensive genetic testing that could potentially further clarify Lynch syndrome carrier status is essential to provide tailored screening guidelines to affected individuals and their family members; however, patient understanding of the potential impact of updated genetic testing for LS is unclear. This study aimed to evaluate the interest in and perceived impact of updated genetic testing among individuals with UMMRD at a tertiary academic center. A survey evaluating interest in updated genetic testing was mailed to 98 potential participants, and an electronic health record review was completed for the 31 individuals who returned the survey. Results indicate that this population is highly interested in updated genetic testing, and their perceived impact is primarily for family members to have appropriate testing and screening options. Updated risk assessment and genetic counseling, along with a discussion of the benefits and limitations of genetic testing, will allow patients with UMMRD to better understand the impact of comprehensive genetic testing for themselves and their family members.
  Annelise Pace	Outcomes of Genetic Testing in a Genitourinary Genetics Clinic Annelise Amy Pace, B.G.S. Advisory Professor: Ashley Woodson, M.S., C.G.C. Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)-related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these patients, including their cancerous and non-cancerous features, the genetic testing strategy for this population, and the probability of having a positive germline mutation if testing is performed. The purpose of this study is to determine the most common indications for ordering genetic testing in a GU Genetics Clinic and evaluate whether there is a relationship between the indication for genetic testing and genetic testing outcome. An institutional review board-approved retrospective chart review was performed for 220 patients seen in a GU Genetics Clinic at MD Anderson Cancer Center. Patients were stratified into groups based on their indication for genetic testing and an exact binomial test was used to compare the proportion of patients with a positive genetic test from various groups. The majority of patients (92%) were seen for genetic evaluation related to either renal cell carcinoma (RCC) or prostate cancer. Among patients seen for RCC-related evaluation (n=107), meeting published clinical criteria for a hereditary RCC syndrome significantly predicted positive genetic testing (P<0.001). No other indication for testing, including early onset RCC (diagnosed ≤ 46 years) predicted for positive genetic test results. Among patients seen for prostate-related evaluation (n=101), 7 individuals tested positive for a hereditary syndrome related to prostate cancer, however none were identified by metastatic prostate cancer status alone. Our data suggest current algorithms lack sensitivity for selecting individuals with RCC or prostate carcinoma at risk for germline mutations. Evaluation of pedigree and identifying presence of syndromic features can guide risk assessment and increase the probability of identifying individuals with GU cancers at risk for harboring a germline cancer causing mutation.
  Sara Wofford PMID 30608006	GENETIC TESTING PRACTICES OF GENETIC COUNSELORS, GENETICISTS, AND PEDIATRIC NEUROLOGISTS WITH REGARD TO CHILDHOOD-ONSET NEUROGENETIC CONDITIONS Sara Christine Wofford, BS Advisory Professor: Sarah Noblin, MS, CGC Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all1. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study identified significant variance between the testing strategies reported by neurologists compared to those of geneticists and genetic counselors. Overall, the results of this study support the need for further education for pediatric neurologists regarding genetic testing and updated guidelines that are consistent across specialties and readily accessible by the primary providers for patients with these conditions. Further, the continued integration of genetic counselors into pediatric neurology clinics would improve utilization of genetic testing while reducing the burden on neurologists.