Discussions of personal identity in genetic counseling supervision.

Fieldwork supervision is integral to genetic counseling students' training and has the potential to impact how included students feel in the genetic counseling field. For example, in related counseling fields, when supervisees and supervisors discuss their personal similarities or differences in ethnicity, supervisees report a stronger supervisory working alliance (SWA) (Journal of Multicultural Counseling and Development, 2001, 29, 102-113). However, the application of these studies on identity discussions to the genetic counseling field is currently unknown.

Genetic counseling clinic model expansion: Impact on access for general genetics clinic.

Cincinnati Children's Hospital Medical Center (CCHMC) implemented a Genetic Counseling Clinic (GCC), where the appointment for a general genetics indication is conducted solely by a genetic counselor (GC). We conducted a retrospective chart review of 211 patient encounters scheduled in the GCC between January 1, 2022 and June 30, 2022 and collected patient demographics, wait time, appointment characteristics, referral indication, and clinical recommendations. To study impact on patient access, we compared patient demographics and appointment characteristics with 912 patient encounters scheduled in the General Genetics Clinic with a geneticist during the same time period.

Prevalence and Predictors of Hereditary Hemorrhagic Telangiectasia and Capillary-Malformation Arteriovenous Malformation Syndrome Among Children with Neurovascular Malformations.

Objective: To investigate the prevalence and predictors of hereditary hemorrhagic telangiectasia (HHT) and capillary-malformation arteriovenous malformation (CM-AVM) syndrome among children with no prior personal or family history of these diseases who presented with an arteriovenous shunt lesion.

Study Design: A retrospective chart review was completed on patients aged 0 through 21 years with arteriovenous shunt lesions evaluated at our Cerebrovascular Center. Diagnosis of definite or suspected HHT or CM-AVM was based on clinical features and genetic testing.

Creation and initial validation of a genetic counseling supervisory self-efficacy scale.

Fieldwork supervision is the "signature pedagogy" for training genetic counseling students, ensuring that students have the experience necessary to become minimally competent genetic counselors. According to the National Society of Genetic Counselors 2022 Professional Status Survey, roughly 40% of genetic counselors serve as supervisors for genetic counseling graduate students. Despite fieldwork supervision being essential for training, there are currently no validated supervision skill assessment tools for genetic counseling fieldwork supervisors to use for professional development.

Comparison of genetic testing documentation between genetic counselors and non-genetic counselors.

Implementation of genetic testing in healthcare increases, but access to, and number of, genetics providers remain scarce. This study analyzed the impact of genetic counselor (GC) involvement on frequency of documentation of pre- and post-test counseling of genetic testing between GCs and genetics providers (GPs), and GCs and non-genetics providers (NGPs). A retrospective chart review of 467 charts from patients who had genetic testing ordered between July 2016 and June 2018 at a primarily pediatric institution was conducted.

How we approach genetics in the diagnosis and management of vascular anomalies.

Vascular anomalies are a heterogeneous group of disorders that are currently classified based on their clinical and histological characteristics. Over the past decade, there have been significant advances in molecular genetics that have led to identification of genetic alterations associated with vascular tumors, vascular malformations, and syndromes. Here, we describe known genetic alterations in vascular anomalies, discuss when and how to test, and examine how identification of causative genetic mutations provides for better management of these disorders through improved understanding of their pathogenesis and increasing use of targeted therapeutic agents in order to achieve better outcomes for our patients.

Hereditary hemorrhagic telangiectasia (HHT): a practical guide to management.

Hereditary hemorrhagic telangiectasia (HHT), the second most common inherited bleeding disorder, is associated with the development of malformed blood vessels. Abnormal blood vessels may be small and cutaneous or mucosal (telangiectasia), with frequent complications of bleeding, or large and visceral (arteriovenous malformations [AVMs]), with additional risks that can lead to significant morbidity and even mortality. HHT can present in many different ways and can be difficult to recognize, particularly in younger patients in the absence of a known family history of disease or epistaxis, its most common manifestation.

Impact of vascular anomalies on the PTEN phenotype in children and young adults.

Germline PTEN (phosphatase and tensin homolog) mutations lead to inappropriate cell survival and growth, and a predisposition to multiple cancers. Some patients also have vascular anomalies (VAs), and it is unclear whether these patients have different phenotypes or oncologic risks. We conducted a two-institution retrospective cohort study to better understand the phenotypes of children and young adults with PTEN mutations, and to compare individuals with VA to those without.

Further validation of the Genetic Counseling Self-Efficacy Scale (GCSES): Its relationship with personality characteristics.

Demonstrating validity of a tool for genetic counseling self-efficacy could help determine if this is a useful tool for training outcomes or other purposes in the field. The purpose of the current study was to describe the relationship between genetic counseling self-efficacy, measured by scores on the Genetic Counseling Self-Efficacy Scale (GCSES), personality characteristics, clinical characteristics, and performance on the American Board of Genetic Counselors (ABGC) board certification examination. Genetic counselors, recruited via email through the National Society of Genetic Counselors (NSGC) Student Research Survey Program, completed an online questionnaire that included the GCSES, work locus of control (WLOC) scale, trait subscale of the State-Trait Anxiety Inventory (STAI), and questions related to board examination performance.

The relationship between genetic counseling student self-efficacy and clinical training.

Clinical experience is an important part of the training required in genetic counseling graduate programs, but little evidence exists for the number of clinical cases a student may need in order to confidently perform skills. The purpose of this study was to further describe the relationship between genetic counseling student self-efficacy and the number of core cases students log during their training. In this study, second year genetic counseling students nearing the end of their training completed a questionnaire that included the Genetic Counseling Self-efficacy Scale (GCSES) and questions related to the students' clinical experiences.

Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results.

Whole exome sequencing (WES) is expected to impact patient management, but data surrounding the types of downstream effects and how frequently these effects are observed depending on the type of WES results received is limited. This study investigated changes to medical management and genetic counseling (GC) options following WES for individuals with positive and negative results. Electronic medical records of patients who had positive (n = 37) or negative (n = 41) WES results from Cincinnati Children's Hospital were retrospectively reviewed.

The Relationship Between the Supervisory Working Alliance and Student Self-Efficacy in Genetic Counseling Training.

The purpose of this study was to determine if a genetic counseling student's perception of the supervisory working alliance (SWA) is related to their self-efficacy on select clinical practice-based competencies (PBCs), evaluating the second tenet of the Reciprocal Engagement Model of Supervision (REM-S) from a student perspective. Second year genetic counseling students (N = 168) completed a survey containing demographic and clinical rotation experience questions, the Supervisory Working Alliance Inventory-Trainee Form (SWAI-T), and the Genetic Counseling Self-Efficacy Scale (GCSES). Overall, the SWAI-T was significantly associated with all factors of the GCSES.

Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population.

Objective: To evaluate the accuracy of the clinical Curaçao criteria in the diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and adolescents.

Study Design: This was a retrospective, multicenter chart review of 673 patients evaluated between 2002 and 2016; 290 were eligible for the study. Genetic testing for a pathogenic mutation was considered the gold standard against which the clinical Curaçao criteria were compared.

Development and Validation of the Genetic Counseling Self-Efficacy Scale (GCSES).

This study describes the development of a self-efficacy scale that is specific to genetic counseling and based both on Bandura's self-efficacy theory (2006) and the Accreditation Council for Genetic Counseling practice-based competencies (2013). The phase 1 validation compared genetic counseling students (n = 20) and genetic counselors (n = 18). Nine items were removed from the scale at this point for lack of discrimination or redundancy.

The Relationship between the Supervision Role and Compassion Fatigue and Burnout in Genetic Counseling.

Many genetic counselors provide supervision to students during their career. Previous studies have shown genetic counselors, in general, are at increased risk for developing compassion fatigue. The purpose of this study was to determine if there was a difference in compassion fatigue and burnout levels in genetic counselors who currently supervise compared to genetic counselors who do not.

Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

We report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome.

Measuring the Effectiveness of a Genetic Counseling Supervision Training Conference.

Genetic counselors who receive formal training report increased confidence and competence in their supervisory roles. The effectiveness of specific formal supervision training has not been assessed previously. A day-long GC supervision conference was designed based on published supervision competencies and was attended by 37 genetic counselors.

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Background: There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden associated with genetic tests performed prior to WES.

Objective: We demonstrate the performance characteristics of WES in a pediatric setting by describing our patient cohort, calculating the diagnostic yield, and detailing the patients for whom clinical management was altered.

The impact of supervision training on genetic counselor supervisory identity development.

Supervision is critical to the training of genetic counselors. Limited research exists on the influence of supervision training and experience on the development of genetic counseling supervisors. The purpose of this study was to investigate the impact of supervision training in addition to supervisory and clinical experience on supervisory identity development, and the perceived confidence and competence supervisors have in their own supervisory skills.

Barriers impacting the utilization of supervision techniques in genetic counseling.

Clinical supervision is an essential element in training genetic counselors. Although live supervision has been identified as the most common supervision technique utilized in genetic counseling, there is limited information on factors influencing its use as well as the use of other techniques. The purpose of this study was to identify barriers supervisors face when implementing supervision techniques.

Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy.

Objective: Homozygous recessive germline mutations of the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene, encoding 15-hydroxyprostaglandin dehydrogenase, result in persistent elevation of circulating PGE(2) levels, causing the syndrome of primary hypertrophic osteoarthropathy (PHO). Homozygous HPGD mutations have so far been reported in 10 families, all but one displaying parental consanguinity. Only two of these families were of European origin.