Host perspectives on international fieldwork placements for U.S.-based genetic counseling students.

Genetic counseling students from the United States are often interested in international summer fieldwork placements, but little is known about the hosts' perspectives when considering such requests. We sent out surveys to 132 international genetics providers (genetics clinics and genetics programs), to identify advantages, barriers and expectations for U.S.-based genetic counseling students seeking a fieldwork placement. Twenty-seven (20.4% response rate) participants from 14 different countries shared their experiences and views. Providers placed higher emphasis on teaching and benefits to students (95.2%) rather than intrinsic benefits to their programs (90.4%). Lack of American Board of Genetic Counseling's (ABGC) reciprocal recognition (30%) and cost of training (25%), were rated as the strongest barriers to hosting U.S.-based students. Surprisingly, 'Language Barrier' (20%), although mentioned in open-ended comments, was not ranked highly as a barrier. When asked about expectations of students, active participation in student-led counseling sessions under supervision was encouraged by a majority of participants (55.6%). Where most genetic counseling literature is U.S.-centric, this study reports on insights gathered from international genetics providers. Our study encourages U.S.-based programs to consider these findings when designing exchange programs and international fieldwork placements.

Clinical and laboratory genetic counseling assistants: Comparing background experiences, responsibilities, satisfaction, and career goals.

Understanding the responsibilities, qualifications, future plans, and contributions of genetic counseling assistants (GCAs) across all work settings could aid in establishing a scope of practice, advocating for creation of GCA positions, and informing future education and training for GCAs and genetic counselors. We compared laboratory and clinical GCA responsibilities, sources of job satisfaction, background experience, and career goals. Sixty-five laboratory and 73 clinical GCAs participated in this study by completing an online survey. Most participants had a Bachelor of Science/Arts and aspired to become genetic counselors (GCs). Clinical GCAs had more interaction with patients, whereas laboratory GCAs had more interaction with ordering providers and little to no patient contact. On a scale from 0 (not at all satisfied) to 10 (extremely satisfied), clinical GCAs had statistically significant higher satisfaction ratings (M = 8.56, SD = 1.42) than laboratory GCAs (M = 7.35, SD = 1.82, U = 3346, p = 0.001). While most participants were GCAs for 13-18 months, laboratory GCAs stayed in their positions (19-24 months, n = 20, 30.8%) for significantly longer than clinical GCAs (7-12 months, n = 21, 28.8%, X2 (5) = 12.799, p = 0.025). GCAs noted increases in their knowledge and new skill development, though we also identified responsibilities for which they did not feel qualified. The results of this study can potentially help define a GCA scope of practice with data regarding background experiences and responsibilities. In addition, GCA employers may use the results to retain GCAs by addressing satisfaction issues, providing appropriate training, and adjusting roles. GC training program directors can use the results to manage expectations of applicants with GCA experience and inform training and curriculum needs based on the composition of a GC class.

Factors associated with pediatric genetic counselors' practices related to bullying screening.

Bullying is reported in around 20% of children according to the US Department of Education and has been reported in the histories of individuals with genetic disorders. To our knowledge, there has never been a study surveying whether genetic counselors screen their pediatric patients for bullying. This is despite guidelines that pediatric healthcare providers should screen for bullying. The purpose of this study was to assess North American genetic counselors who see pediatric patients and enquire about their practices, attitudes, self-confidence, knowledge, and potential training needs in relation to bullying screening. In an anonymous online survey, 139 genetic counselors from the United States and Canada completed a modified version of the previously validated Healthcare Providers Practices, Attitudes, Self-Confidence, and Knowledge (HCP-PACK) instrument. Among our participant population, 85% reported they did not screen for bullying. This is despite no statistically significant difference in the amount of reported time spent on either initial or follow-up appointments between those who did or did not screen. Those who screened for bullying among their pediatric patients were more likely to view bullying as a healthcare problem (as measured on the attitude subscale) (t[135] = -2.07, p = 0.04) and had greater confidence in their ability to know how to assess for bullying (as measured on the self-confidence subscale) (t[135] = -2.90, p = 0.004) compared with participants who did not screen for bullying. Responses from genetic counselors who screened their patients for bullying demonstrated how screening for bullying can be aligned with the American Board of Genetic Counseling practice-based competencies. Even though the majority of participants did not view screening for bullying as a genetic counselor's role, 82.5% agreed that bullying was a healthcare problem and 63.6% thought genetic counselors should have additional educational opportunities to learn about bullying. Evidence-based guidance is needed to help genetic counselors interested in including screening for bullying in their practice.

Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans.

Continuous advances in genetic testing methodologies and an increased understanding of the genetic mechanisms of diseases have fueled genetic testing utilization across health care specialties. To our knowledge, national trends in the ordering of genetic testing have not been studied broadly across clinical indications, testing methodologies, and ordering provider specialties. We performed a retrospective analysis of 4,499 complete prior authorization requests for molecular genetic testing submitted to four regional health plans' commercial lines of business between May 1, 2019 and May 31, 2019. Ordering providers were characterized by their certification(s) and specialty of practice. Among 4,499 genetic testing requests, 92% were ordered by non-genetics providers. Obstetrician/gynecology (OBGYN) (63%), oncology (15%), and genetics (8%) providers ordered genetic testing most frequently. Reproductive, hereditary cancer, and tumor testing were the most frequently ordered genetic tests. Seventy-nine percent of all prior authorization requests were approved. When analyzing complex genetic testing requests, we found that testing ordered by genetics providers was more likely to be approved based on health plan policy than testing ordered by non-genetics providers. Our results suggest that health care providers across multiple medical specialties may benefit from involvement of genetics specialists in decision-making regarding molecular tests.

Telehealth for genetic counseling: A systematic evidence review.

Telehealth options, such as telephone counseling or videoconferencing, for service delivery in genetic counseling are becoming more widely accepted. However, until now, there has not been a systematic review of the literature focused specifically on genetic counseling outcomes for telehealth. We performed a systematic evidence review to compare telehealth genetic counseling (THGC), including videoconferencing and telephone counseling, across specialties to in-person genetic counseling (IPGC) for a range of outcomes specific to patient and provider experiences and access to care. Several biomedical databases were queried up to January 11, 2021, to identify original research evaluating THGC. Through this search, 42 articles met the inclusion criteria including 13 randomized controlled trials and 29 non-randomized observational studies encompassing 13,901 patients. Most included studies focused only on cancer genetic counseling; however, adult, pediatric, and prenatal specialties were also represented. The majority of studies evaluated patient and/or access to care outcomes. Though most studies reported high patient satisfaction with THGC, as well as comparable rates of trust and rapport, confidence in privacy, health behavior changes, and psychosocial outcomes, few represented diverse populations. Data of provider experiences were limited and varied with more disadvantages noted compared with patient experiences, particularly in studies involving telephone genetic counseling. Studies consistently reported a decrease in the patients' costs and time required for travel when patients are seen via THGC compared to IPGC with a similar reduction in costs to the health system. Overall, results from our evidence synthesis suggest THGC is non-inferior or comparable to IPGC across many domains, even considering that many of the studies included in this review were conducted with telehealth systems, notably videoconferencing, that were less robust and reliable than what is available today. There are notable limitations within this body of literature, leading to potential uncertainty in the generalizability of our analysis. We outline several recommendations for future studies.

Eliciting culturally and medically informative family health histories from Marshallese patients living in the United States.

The United States (U.S.) resident Marshallese population is growing rapidly. Subsequent to this growth, Marshallese patients experience language and cultural barriers when attempting to access medical care in the U.S. This study: (a) documents how the Marshallese refer to biological and adopted family members; (b) identifies barriers encountered by Marshallese when seeking medical care; and (c) describes effective communication strategies for healthcare providers to use when treating Marshallese patients. Six key informant interviews were conducted in English with bicultural (U.S. and native Marshallese) informants, the majority of whom were women who worked in a healthcare setting. Participants were recruited through the Center for Pacific Islander Health in Arkansas and through personal contacts within the Marshallese community. Based on the study findings, examples of how providers can make genetic services more accessible and meaningful for Marshallese patients are also provided. This study is particularly relevant to genetic counselors as the number of Marshallese patients and families needing their services is growing.

KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.

OBJECTIVE: Several small case series identified KCTD7 mutations in patients with a rare autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and neuronal ceroid lipofuscinosis (CLN14). Despite the name KCTD (potassium channel tetramerization domain), KCTD protein family members lack predicted channel domains. We sought to translate insight gained from yeast studies to uncover disease mechanisms associated with deficiencies in KCTD7 of unknown function. METHODS: Novel KCTD7 variants in new and published patients were assessed for disease causality using genetic analyses, cell-based functional assays of patient fibroblasts and knockout yeast, and electron microscopy of patient samples. RESULTS: Patients with KCTD7 mutations can exhibit movement disorders or developmental regression before seizure onset, and are distinguished from similar disorders by an earlier age of onset. Although most published KCTD7 patient variants were excluded from a genome sequence database of normal human variations, most newly identified patient variants are present in this database, potentially challenging disease causality. However, genetic analysis and impaired biochemical interactions with cullin 3 support a causal role for patient KCTD7 variants, suggesting deleterious alleles of KCTD7 and other rare disease variants may be underestimated. Both patient-derived fibroblasts and yeast lacking Whi2 with sequence similarity to KCTD7 have impaired autophagy consistent with brain pathology. INTERPRETATION: Biallelic KCTD7 mutations define a neurodegenerative disorder with lipofuscin and lipid droplet accumulation but without defining features of neuronal ceroid lipofuscinosis or lysosomal storage disorders. KCTD7 deficiency appears to cause an underlying autophagy-lysosome defect conserved in yeast, thereby assigning a biological role for KCTD7. Ann Neurol 2018;84:774-788.

Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.

Extracardiac arterial stenoses are not uncommon in Williams syndrome (WS); however, data on the utility of advanced cardiovascular imaging (CVI) to assess these stenoses are lacking. We retrospectively reviewed the frequency, indication, and diagnostic outcomes of CVI modalities performed in patients with WS evaluated at a single institution between 2001 and 2014. Data were collected and analyzed from 34 patients (56% female) who underwent CVI during the study period. The median age was 10 years (range 1.8-33 years). Excluding echocardiograms, 78 CVI studies "advanced" were performed in the 34 patients (mean 2.3 studies/patient). The most common advanced CVI was renal ultrasound with Doppler (29/34, 85%), followed by computed tomographic angiography (13/34, 38%) and magnetic resonance angiography in (9/34, 26%). Abnormalities were detected in 62% of patients (21/34). For the 20 patients in whom advanced CVI were performed for defined clinical indications, the rate of abnormalities were 73, 70, 57, and 100% when performed for anatomic delineation (15 patients), hypertension (10 patients), bruits (7 patients), and/or decreased peripheral pulses (2 patients), respectively. Advanced CVI in patients with WS reveals abnormalities in the majority of cases, and physical exam findings frequently indicate abnormalities on advanced CVI.

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

PIGT-CDG, an autosomal recessive syndromic intellectual disability disorder of glycosylphosphatidylinositol (GPI) anchors, was recently described in two independent kindreds [Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (OMIM, #615398)]. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, a subunit of the heteropentameric transamidase complex that facilitates the transfer of GPI to proteins. GPI facilitates attachment (anchoring) of proteins to cell membranes. We describe, at ages 7 and 6 years, two children of non-consanguineous parents; they had hypotonia, severe global developmental delay, and intractable seizures along with endocrine, ophthalmologic, skeletal, hearing, and cardiac anomalies. Exome sequencing revealed that both siblings had compound heterozygous variants in PIGT (NM_015937.5), i.e., c.918dupC, a novel duplication leading to a frameshift, and c.1342C > T encoding a previously described missense variant. Flow cytometry studies showed decreased surface expression of GPI-anchored proteins on granulocytes, consistent with findings in previous cases. These siblings further delineate the clinical spectrum of PIGT-CDG, reemphasize the neuro-ophthalmologic presentation, clarify the endocrine features, and add hypermobility, low CSF albumin quotient, and hearing loss to the phenotypic spectrum. Our results emphasize that GPI anchor-related congenital disorders of glycosylation (CDGs) should be considered in subjects with early onset severe seizure disorders and dysmorphic facial features, even in the presence of a normal carbohydrate-deficient transferrin pattern and N-glycan profiling. Currently available screening for CDGs will not reliably detect this family of disorders, and our case reaffirms that the use of flow cytometry and genetic testing is essential for diagnosis in this group of disorders.