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.
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.
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.
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.
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
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.
S.S. Hashmi, MD, MPH, PhD
Mary Kay Koenig, MD
Hope Northrup, MD
Claire N. Singletary, MS, CGC
David Rodriguez-Buritica, MD
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.
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
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.
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.
Syed Hashmi, MD, MPH, PhD
Jennifer Czerwinski, MS, CGC
Victoria Wagner, MS, CGC
Pamela Promecene, MD
Irena Milentijevic, PsyD
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.
Andria Besser, MS, CGC
Jennifer Czerwinski, MS, CGC
Sandra Darilek, MS, CGC
Lara A. Friel, MD, PhD
Syed Hashmi, MD, MPH, PhD
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.
Eduardo Vilar Sanchez, MD, PhD
Syed Hashmi, MD, PhD, MPH
Meagan Choates, MS, CGC
Sarah Noblin, MS, CGC
Maureen Mork, MS, CGC