Browsing by Subject "Genetic counseling"
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Item An evaluation of practices and policies used in genetics clinics across the United States to manage referrals for Ehlers-Danlos and hypermobility syndromes(Elsevier, 2025-01-07) Boucher, Lauren; Nestler, Berkley; Groepper, Daniel; Quillin, John; Deyle, David; Halverson, Colin M. E.; Medicine, School of MedicinePurpose: Hypermobile Ehlers-Danlos syndrome (hEDS) and joint hypermobility syndrome (JHS), among other conditions, comprise a collection of heritable disorders of connective tissue. There are recognized challenges in diagnosing JHS/hEDS. Despite a lack of identifiable molecular etiology for these conditions, referrals to medical geneticists for evaluation are commonplace, and they continue to rise. Because of an absence of nationally recognized referral guidelines for JHS/hEDS, health care institutions are left to develop their own policies. The purpose of our study was to characterize these ad hoc policies systematically and at a nationwide level. Methods: We conducted a mixed-methods study of 71 board-eligible or board-certified genetic counselors, including 15 qualitative interviews. Results: Cross-case analysis revealed multiple motivations for creating these policies, methods to more effectively manage referrals for hypermobility and concern for EDS, and participants' evaluations of the successes and shortcomings of these policies at their institutions. We found diverse and unstandardized policies that were meant to address numerous perceived challenges. This lack of standardization is a concern because it may result in inconsistent access to care for patients with JHS/hEDS and create barriers to diagnosis and treatment. Conclusion: Our findings demonstrate that policies vary widely, and genetic counselors are concerned about the potential impact of this variability on the quality of care for patients with JHS/hEDS.Item An investigation of preceptors' perceptions of behavioral elements of "professionalism" among genetic counseling students(Wiley, 2023) Delk, Paula; Bowling, Isabella; Schroeder, Courtney; Wilson, Theodore E.; Wesson, Melissa; Wetherill, Leah; Medical and Molecular Genetics, School of MedicineProfessionalism in health care is a loosely defined but increasingly studied concept. In genetic counseling, "professional development" expectations for entry-level genetic counselors are described in the "Practice-Based Competencies for Genetic Counselors," but the teaching and evaluation of "professionalism" among genetic counseling students is relatively unexplored. This study investigated program leaders' and clinical supervisors' perceptions of professionalism demonstrated by genetic counseling graduate students to learn about their associated strengths and lapses. Members of program leadership and clinical supervisors at Accreditation Council for Genetic Counseling (ACGC) accredited genetic counseling graduate programs in the United States and Canada were surveyed regarding their observations of genetic counseling students for the years 2017-2019 regarding four domains of professional behavior: integrity, accountability/conscientiousness, teamwork, and patient care, with the Merriam-Webster definition of each behavior provided for each domain. Participants also provided open-text descriptions. Descriptive results showed that the 263 participants found all facets of these professional behaviors to be essential. Patient care had the highest importance and was the domain with the most strengths observed among genetic counseling students. Lapses in professional behavior were identified for self-awareness, time management, and thoroughness. Free responses noted that suggestions or strategies for education about professional behavior from ACGC may improve the professional behavior of genetic counseling students and in turn, genetic counselors. Participants voiced the importance of consideration of diverse professional and cultural backgrounds in setting the expectations for professional behavior among genetic counseling students and genetic counselors so that "professionalism" in genetic counseling is not defined through a White lens. Further investigation into challenges that genetic counseling students face regarding professional behavior during their graduate training and strategies for education about these behaviors will aid in the growth and improvement of the training of genetic counselors. Given the sensitive nature of this topic, portions of this discussion may be triggering for some readers.Item Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics(Springer, 2021) Margolin, Amy; Helm, Benjamin M.; Treat, Kayla; Prucka, Sandra K.; Halverson, Colin M.E.; Medical and Molecular Genetics, School of MedicineImprovements in technology used for genetic testing have yielded an increased numbers of variants that are identified, each with a potential to return uninformative results. While some genetics providers may expect patients to be responsible for staying abreast of updates to their genetic testing results, it is unknown whether patients are even aware of the possibility of variant reclassification. Little research has assessed the comprehension and attitudes of parents of pediatric patients regarding reclassification of variants of uncertain significance (VUS). Semi-structured telephone interviews were conducted with parents (n = 15) whose children received a VUS from genetic testing in either the pediatric neurogenetics or developmental pediatrics clinics at Riley Hospital for Children in Indianapolis, Indiana. Most participants expressed understanding of the uncertainty surrounding their child's VUS test result. However, nearly half of participants shared that they had no prior knowledge of its potential reclassification. When asked whose responsibility it is to keep informed about changes to their child's VUS status, some participants stated that it belonged solely to healthcare providers - a distinctive finding of our study - whereas others felt that it was a joint responsibility between providers and the parents. We additionally found that some patients desire a support group for individuals with VUS. These results provide insight into the importance of pretest genetic counseling and the need for increased social and informational support for parents of children who receive inconclusive genetic testing results. We conclude that relying solely on the patient or guardian to manage uncertain results may be insufficient.Item Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling(Springer, 2016-12) Freeze, Samantha L.; Landis, Benjamin J.; Ware, Stephanie M.; Helm, Benjamin M.; Department of Pediatrics, IU School of MedicineBicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects.Item Breast Cancer Germline Genetic Counseling and Testing for Populations of African Heritage Globally: A Scoping Review on Research, Practice, and Bioethical Considerations(American Society of Clinical Oncology, 2023) Iwai, Yoshiko; Toumbo, Kadiata; Zuze, Takondwa; Morgan, Jenny S.; Simwinga, Lusayo; Wright, Sarah T.; Fedoriw, Yuri; Oladeru, Oluwadamilola T.; Balogun, Onyinye D.; Roberson, Mya L.; Olopade, Olufunmilayo I.; Tomoka, Tamiwe; Elmore, Shekinah N. C.; Community and Global Health, Richard M. Fairbanks School of Public HealthPurpose: Despite the disproportionately high risk of breast cancer among women of African heritage, little is known about the facilitators and barriers to implementing germline genetic testing and counseling (GT/C). Methods: This scoping review followed guidelines recommended by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews. Published manuscripts from database inception through 2021 were sourced from PubMed, Cumulative Index to Nursing and Allied Health Literature via EBSCO, Embase, Cochrane Library, and Scopus. Search terms were used to retrieve articles addressing (1) African heritage, (2) breast cancer, and (3) GT or GC. The screening involved abstract and title review and full-text review. Data were extracted for all articles meeting the inclusion criteria. Results: A total of 154 studies were included. Most studies that took place were conducted in the United States (71.4%), and most first authors (76.9%) were from the United States. GT was conducted in 73 (49.7%) studies. BRCA1/BRCA2 were the most commonly studied genes for germline mutations. GC was conducted in 49 studies (33.3%), and perspectives on GC were evaluated in 43 (29.3%). The use of racial/ethnic categories varied broadly, although African American was most common (40.1%). Racism was mentioned in three studies (2.0%). Conclusion: There is a growing body of literature on GT/C for breast cancer in women of African heritage. Future studies on GT/C of African populations should consider increased clarity around racial/ethnic categorizations, continued community engagement, and intentional processes for informed consent.Item Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project(Elsevier, 2021) Prior, Thomas W.; Bayrak-Toydemir, Pinar; Lynnes, Ty C.; Mao, Rong; Metcalf, James D.; Muralidharan, Kasinathan; Iwata-Otsubo, Aiko; Pham, Ha T.; Pratt, Victoria M.; Qureshi, Shumaila; Requesens, Deborah; Shen, Junqing; Vetrini, Francesco; Kalman, Lisa; Medicine, School of MedicineSpinal muscular atrophy (SMA) is an autosomal recessive disorder predominately caused by bi-allelic loss of the SMN1 gene. Increased copies of SMN2, a low functioning nearly identical paralog, are associated with a less severe phenotype. SMA was recently recommended for inclusion in newborn screening. Clinical laboratories must accurately measure SMN1 and SMN2 copy number to identify SMA patients and carriers, and to identify individuals likely to benefit from therapeutic interventions. Having publicly available and appropriately characterized reference materials with various combinations of SMN1 and SMN2 copy number variants is critical to assure accurate SMA clinical testing. To address this need, the CDC-based Genetic Testing Reference Materials Coordination Program, in collaboration with members of the genetic testing community and the Coriell Institute for Medical Research, has characterized 15 SMA reference materials derived from publicly available cell lines. DNA samples were distributed to four volunteer testing laboratories for genotyping using three different methods. The characterized samples had zero to four copies of SMN1 and zero to five copies SMN2. The samples also contained clinically important allele combinations (eg, zero copies SMN1, three copies SMN2), and several had markers indicative of an SMA carrier. These and other reference materials characterized by the Genetic Testing Reference Materials Coordination Program are available from the Coriell Institute and are proposed to support the quality of clinical laboratory testing.Item Clinical genetic counselor experience in the adoption of telehealth in the United States and Canada during the COVID-19 pandemic(Wiley, 2021) Ma, Daria; Ahimaz, Priyanka R.; Mirocha, James M.; Cook, Lola; Giordano, Jessica L.; Mohan, Pooja; Cohen, Stephanie A.; Medical and Molecular Genetics, School of MedicineThe COVID‐19 pandemic has significantly impacted the service delivery model (SDM) of clinical genetic counseling across the United States and Canada. A cross‐sectional survey was distributed to 4,956 genetic counselors (GCs) from the American Board of Genetic Counselors and Canadian Association of Genetic Counselors mailing lists in August 2020 to assess the change in utilization of telehealth for clinical genetic counseling during the COVID‐19 pandemic compared with prior to the pandemic. Data from 411 eligible clinical genetic counselors on GC attitudes and their experiences prior to and during the pandemic were collected and analyzed to explore the change in SDM, change in appointment characteristics, change in billing practices, GC perceived benefits and limitations of telehealth, and prediction of future trends in SDM in the post‐pandemic era. The study showed the overall utilization of audiovisual and telephone encounters increased by 43.4% and 26.2%, respectively. The majority of respondents who provided audiovisual and telephone encounters reported increased patient volume compared with prior to the pandemic, with an average increase of 79.4% and 42.8%, respectively. There was an increase of 69.4% of GCs rendering genetic services from home offices. The percentage of participants who billed for telehealth services increased from 45.7% before the pandemic to 80.3% during the pandemic. The top GC perceived benefits of telehealth included safety for high‐risk COVID patients (95.2%) and saved commute time for patients (94.7%). The top GC perceived limitations of telehealth included difficulty to conduct physician evaluation/coordinating with healthcare providers (HCP) (73.7%) and difficulty addressing non‐English speaking patients (68.5%). Overall, 89.6% of GCs were satisfied with telehealth; however, 55.3% reported uncertainty whether the newly adopted SDM would continue after the pandemic subsides. Results from this study demonstrate the rapid adoption of telehealth for clinical genetic counseling services as a result of the COVID‐19 pandemic, an increase in billing for these services, and support the feasibility of telehealth for genetic counseling as a longer term solution to reach patients who are geographically distant.Item Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic(Springer, 2022) Allison, Camille O.; Prucka, Sandra K.; Fitzgerald‑Butt, Sara M.; Helm, Benjamin M.; Lah, Melissa; Wetherill, Leah; Baud, Rebecca E.; Medical and Molecular Genetics, School of MedicineThe COVID-19 pandemic required genetic counseling services, like most outpatient healthcare, to rapidly adopt a telemedicine model. Understanding the trends in patients' preferences for telemedicine relative to in-person service delivery both before and after the advent of the COVID-19 pandemic may aid in navigating how best to integrate telemedicine in a post-COVID-19 era. Our study explored how respondents' willingness to use, and preference for, telemedicine differed from before to after the onset of the COVID-19 pandemic. Respondents included patients, or their parent/guardian, seen in a general medical genetics clinic in 2018, prior to the COVID-19 pandemic, and in 2021, during the COVID-19 pandemic. Respondents were surveyed regarding their willingness to use telemedicine, preference for telemedicine relative to in-person care, and the influence of various factors. Among 69 pre-COVID-19 and 40 current-COVID-19 respondents, there was no shift in willingness to use, or preference for, telemedicine across these time periods. About half of respondents (50.6%) preferred telemedicine visits for the future. Of the 49.4% who preferred in-person visits, 79.1% were still willing to have visits via telemedicine. Predictors of these preferences included comfort with technology and prioritization of convenience of location. This study suggests that a hybrid care model, utilizing telemedicine and in-person service delivery, may be most appropriate to meet the needs of the diverse patients served. Concern for COVID-19 was not found to predict willingness or preference, suggesting that our findings may be generalizable in post-pandemic contexts.Item Contemporary paradigm for the evaluation and treatment of hereditary gastric cancer(AME Publishing Company, 2019-02-25) Skill, Nicholas; Maluccio, Mary; Surgery, School of MedicineGastric cancer is the third leading cause of cancer mortality worldwide. Survival is linked to stage at diagnosis and tolerance to surgery and adjuvant therapy. The emergence of sophisticated methods to identify patients at high risk for the development of gastric cancer has given us an opportunity to eliminate a lethal disease in an identifiable patient population. Guidelines and recommendations have been established and prophylactic total gastrectomy is considered the most effective treatment. However, this requires substantial physical and emotional investment. It is imperative that patients and families are supported by genetic counseling, ongoing surveillance, and survivorship studies.Item Development of Patient Resource for Lecanemab APOE Genetic Testing(Wiley, 2025-01-09) Klee, Victoria; Dratch, Laynie; Fong, Jamie C.; Freeman, Abigail A.; Rumbaugh, Malia C.; Medical and Molecular Genetics, School of MedicineCurrent joint practice guidelines (PG) on genetic counseling and testing for Alzheimer’s disease (AD), published in 2011 by the National Society of Genetic Counselors (NSGC) and American College of Medical Genetics), recommend against clinical APOE genetic testing. These recommendations were largely followed, as seen in a survey of AD Research Centers in 2019 where only 7% of centers reported disclosure of APOE to research participants. However, because the risk of amyloid related imaging abnormalities (ARIA) associated with anti‐amyloid therapy is increased for those with one or two copies of APOE e4, the FDA now endorses APOE testing for those considering this treatment. The current PG states that APOE testing should only occur within the context of genetic counseling. Because AD is a common disease, it is not feasible for genetic counselors to see every patient with MCI or early‐stage AD considering anti‐amyloid therapy. APOE testing is complex, with implications not only for the patient, but for their family members. This has created a need for patient‐facing educational materials and revised clinical guidelines, including when to refer for genetic counseling. The NSGC Dementia Workgroup has received approval to formally update the current PG. Meanwhile, we recognize the urgent need for patient‐facing materials. We therefore developed a factsheet on APOE testing for lecanemab to be used by any provider prescribing the therapy. It has been reviewed by stakeholder and professional groups to optimize utility. Additional multimedia resources are in development. Although there is a spotlight on APOE given the advances in anti‐amyloid therapeutics, the genetic landscape of AD is much more complicated and evolving. The future of genetic testing for AD includes broader dementia panel testing, exome and genome sequencing, proteomic testing for APOE and polygenic risk scores. Furthermore, APOE testing will likely expand to asymptomatic individuals for risk stratification and research participation. These new directions will increase the need for patient education and additional updates to the PG, as well as appropriate triage to maximize benefits from limited genetic counseling resources.