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Background: People with cystic fibrosis (pwCF) have barriers to physical activity including exercise intolerance and fatigue. The advent of small molecule cystic fibrosis transmembrane conductance regulator (CFTR) modulators have shown great clinical improvements in pwCF; however, the effect of CFTR modulators on exercise perception and participation is unknown. The purpose of this study was to investigate whether the administration of CFTR modulators changed the perception and participation in sport and exercise in pwCF., Methods: A survey-based, retrospective cohort study was conducted including individuals aged 18 and above., Results: Eighty-three participants were recruited with a mean age of 30.0 ± 10.5 years. The majority (82 %) of participants were taking CFTR modulators. Participants in the modulator group rated enjoyment of exercise and importance of exercise higher than the non-modulator group and were more likely to exercise as a means to socialize. Participants in the modulator group reported lack of time as the most frequent barrier to sport and exercise whereas fatigue was most reported in the non-modulator group. Twenty-eight percent of the modulator group participated in team/structured sports, whereas no participant engaged in team and structured sports in the non-modulator group., Conclusions: Adults with CF who used CFTR modulators rated exercise more favorably and engaged in more team sport activities compared to pwCF who did not use CFTR modulators. The most frequent barrier to exercise in pwCF who used modulators might no longer be CF-related. More research is needed to confirm whether CFTR modulator administration resulted in increased overall physical activity., Competing Interests: Declaration of competing interest Authors EB, AK, LL and WRH declare that they have no conflicts of interest. Author AB was supported in part by a grant from the National Society of Genetic Counselors–Cystic Fibrosis and CFTR Spectrum Special Interest Group., (Copyright © 2024. Published by Elsevier Ltd.)

Many current and upcoming healthcare providers do not feel comfortable ordering or discussing genetic tests and using genetic information in medicine. Nationally, a little over a quarter of medical students indicate that they do not feel prepared to use genetic information in clinical rotations, despite attempts at many schools to remodel the genetics curriculum. This study was conducted at Emory University School of Medicine to identify gaps within the medical curriculum that may contribute to student reports that they feel underprepared to apply genetic knowledge in clinical practice. The analysis included a comprehensive curriculum inventory of genetic content that was then compared to the responses from focus groups of randomly selected second- and fourth-year medical students without a prior genetics degree or background. This joint analysis of precisely what was taught and how it was perceived by students was informative in the development of targeted interventions in our curriculum, and it highlighted the important role of genetic counselors in the education of medical students. Our curriculum has a structure similar to that at many other schools, in which core genetics concepts are concentrated in a brief segment in the first year. We believe our results will be useful for other medical schools to address the perception by medical students that they are underprepared to use genetic information and other basic sciences clinically., (© 2023 National Society of Genetic Counselors.)

Genetic counseling (GC) services are increasingly delivered by phone or video, resulting in more telehealth student rotations. The purpose of this study was to describe genetic counselors' utilization of telehealth for student supervision and to compare how their comfort, preferences, and perception of the difficulty of selected student supervision competencies vary between phone, video, and in-person student supervision. In 2021, patient-facing genetic counselors in North America with ≥1-year GC experience who supervised ≥3 GC students in the last 3 years received an invitation via the American Board of Genetic Counseling or the Association of GC Program Directors listservs to complete a 26-item online questionnaire. There were 132 responses eligible for analysis. Demographics were fairly consistent with the National Society of Genetic Counselors Professional Status Survey. The majority of participants used more than one service delivery model to provide GC services (93%) and supervise students (89%). Six supervisory competencies related to the student-supervisor communication (Eubanks HIggins et al., 2013) were perceived to be most difficult to accomplish by phone and easiest in-person (p < 0.0001). Participants were most comfortable in-person and least comfortable by telephone for both patient care and student supervision (p < 0.001). The majority of participants predicted continued use of telehealth for patient care but preferred in-person service delivery for both patient care (66%) and student supervision (81%). Overall, these findings indicate service delivery model changes in the field have an impact on GC education and suggest that the student-supervisor relationship may be different via telehealth. Furthermore, the stronger preference for in-person patient care and student supervision, despite predicted continued telehealth utilization, points to a need for multifaceted telehealth education initiatives., (© 2023 National Society of Genetic Counselors.)

Purpose of Review: Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) spectrum disorders have a strong genetic component. Genetic counselors are a limited resource, and therefore, other providers must be prepared to integrate genetic testing into their practice., Recent Findings: Recent ALS/FTD studies have demonstrated that lack of family history does not preclude a genetic etiology. The benefits of a genetic diagnosis have expanded to include the potential to treat; thus, genetic testing is increasingly recommended to be offered to all persons with ALS/FTD., Summary: Offering genetic testing to persons with ALS/FTD spectrum disorders should be part of routine clinical neurologic care. All genetic testing should include discussion about the medical and psychosocial implications of testing for the patient and family members. Neurologists should be prepared to facilitate this process and recognize when referral to a genetic counselor is indicated., Competing Interests: L. Dratch has consulted for Passage Bio, Biogen, and Sano Genetics. All other authors report no disclosures relevant to the manuscript. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.FIVE NEW THINGSNeurologists should incorporate discussions of genetic testing into the care of patients with ALS/FTD spectrum disorders.Genetic testing should be offered to all patients with ALS/FTD spectrum disorders because of management and psychosocial implications, clinical trials eligibility, emerging gene-based treatments, and determination of recurrence risks for family members.When offering genetic testing, the clinician should discuss the impact of testing for the patient and their relatives, timing of test ordering and results disclosure, review of different testing options and their limitations, and overview of possible test results.Careful consideration must be given to the genetic testing being ordered and interpretation of results. Specific attention should be paid to which genes are included in the analysis and what sequencing technology is used.In diagnostic genetic testing, referral to a genetic counselor should be prioritized for those requiring (1) additional conversation regarding decision-making about testing, (2) assistance with interpretation of genetic test results (e.g., uncertain findings), (3) guidance for further genetic evaluation if initial testing is not diagnostic, and (4) additional counseling to address emotional implications or strategies to communicate with family members. Referral to a genetic counselor should be made for all asymptomatic individuals considering predictive genetic testing., (© 2023 American Academy of Neurology.)

Genetic testing is one of the most high-yield diagnostic tests in the evaluation of pediatric sensorineural (SNHL) hearing loss, leading to a genetic diagnosis in 40-65% of patients. Previous research has focused on the utility of genetic testing in pediatric SNHL and otolaryngologists' general understanding of genetics. This qualitative study examines otolaryngologists' perceptions about facilitators and barriers when ordering genetic testing in the workup of pediatric hearing loss. Potential solutions for overcoming barriers are also explored. Eleven (N = 11) semi-structured interviews were conducted with otolaryngologists in the USA. Most participants were currently practicing in a southern, academic, urban setting and had completed a pediatric otolaryngology fellowship. Insurance was one of the main barriers to testing, and increased genetics provider accessibility was the most frequently cited solution to increase utilization of genetic services. Difficulty acquiring insurance coverage and unfamiliarity with the genetic testing process were the most common reasons otolaryngologists referred patients to genetics clinics for genetic testing, as opposed to ordering testing themselves. This study suggests that otolaryngologists recognize the importance and utility of genetic testing, but a lack of genetics-specific skills, knowledge, and resources makes it difficult for them to facilitate testing. Multidisciplinary hearing loss clinics that include genetics providers may increase the overall accessibility of genetic services., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Mothers of children with haemophilia (CWH) experience guilt related to this genetic condition. Several factors contributing to maternal guilt have been identified, but the scope and extent of guilt have not previously been quantified., Aim: This study provides insight into the experience of mothers of CWH and how they perceive and manage guilt. It then identifies the most common and helpful coping mechanisms., Methods: Between May and October 2021, we distributed an anonymous electronic survey to mothers of CWH. The Parent Experience of Child Illness measured maternal guilt, the PROMIS Parent Proxy for Life Satisfaction measured perception of their child's life satisfaction and additional questions explored specific guilt factors and coping strategies., Results: Eighty-seven mothers responded to the survey. Forty percent of mothers experienced increased guilt. The most common reasons for guilt included putting their child through pain during infusions and passing on the affected X chromosome. Perceived life satisfaction, increased age and genetic counselling were associated with less guilt. The most common coping strategies involved utilizing social support, self-education and connecting with other mothers in the community., Conclusion: Some mothers experienced increased feelings of guilt, illustrating the need for providers to tactfully provide anticipatory guidance and counselling. Tangible manifestations of haemophilia were more likely to trigger feelings of guilt than familial factors. Community immersion was beneficial, as other mothers in the community served as a source of social and educational support. Most mothers did not report guilt, illustrating the adaptability and resilience of the haemophilia community., (© 2023 John Wiley & Sons Ltd.)

The aim of carrier screening is to identify prospective parents at risk of having a pregnancy affected with an autosomal recessive or X-linked disorder. Though minimal guideline-based screening is available, expanded carrier screening (ECS) is quickly becoming a feasible option for the general population due to its growing availability and affordability. However, the impact of ECS on clients and providers remains relatively unexplored. We performed a systematic evidence review to identify publications describing client-, provider-, and test-related outcomes. We searched several biomedical databases for articles published between January 1, 2003 and May 31, 2021. Studies were eligible for inclusion if they described genetic counseling and/or genetic testing for carrier screening (minimal guideline-based or ECS) in a prenatal or preconception setting in the United States. Title and abstract screening were performed using the Raayan web application or customized Google Forms. Full-text review and data extraction of included articles were performed using custom Google Forms. Two researchers performed a multistep selection process independently for validation purposes. Of 5413 unique articles screened, 36 studies were included with several studies contributing to multiple outcomes. Twenty described outcomes relating to patients/clients, 10 described provider-based outcomes, and 16 described test-based outcomes. Findings suggest that client and provider perceptions of ECS and minimal guideline-based carrier screening are multifaceted. Though clients have expressed desire for ECS, clinical uptake and impact on reproductive decision-making varies. Additionally, though genetic counselors seem to be comfortable with ECS, most other reproductive care providers seem to prefer minimal guideline or ancestry-based screening due to perceived barriers, such as time needed for ECS results disclosure and follow-up, as well as the desire to have panels set by professional societies/recommendations. There are limitations within the gathered literature, leading to potential uncertainty in the generalizability of our review. We outline several recommendations for future studies, including the need to examine variant interpretation and use of next-generation sequencing., (© 2022 National Society of Genetic Counselors.)

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy with usually typical cognition. The first disease-modifying therapy for SMA, nusinersen, was approved by the United States Food and Drug Administration (FDA) in 2016 and leads to improved outcomes, especially when administered presymptomatically. Population-wide carrier screening and newborn screening (NBS) are now recommended by several professional organizations to promote reproductive autonomy, early diagnosis, and treatment. Prenatal genetic counselors (GCs) are important providers of the SMA screening and diagnosis process, but the possible impact of nusinersen on their practice has not been explored. A survey of 182 prenatal GCs in the United States (US) assessed baseline knowledge of nusinersen and likelihood of discussing this option with prospective parents. The majority of GCs (94.5%) were aware of this drug, and almost all (87.3%) felt that this information would affect pregnancy management decisions. However, less than half of GCs (49.2%) felt confident discussing nusinersen, 45.1% were unaware if this treatment was available in their practice setting, and one in five (19.3%) did not know where to find information about SMA treatments. Participants were more confident and knowledgeable about NBS for SMA, and several indicated that NBS would reduce their emphasis on carrier screening and diagnostic testing, not recognizing that an early prenatal diagnosis can enable preparations for complex, time-sensitive treatment. Only 5.0% of participants felt that a prenatal GC should discuss nusinersen with prospective parents. However, encouragingly, nearly all GCs who felt confident discussing this treatment option (86.4%) reported using this information weekly in their real-world practice. These data highlight an opportunity to provide up-to-date education about SMA treatments, as well as the significant impacts of early diagnosis. Additionally, interdisciplinary communication and care may be appropriate to clarify healthcare resources available and support a variety of patient needs. Increasing awareness and confidence about available options can help prenatal GCs empower patient autonomy and shared decision-making in the new era of disease-modifying treatment for SMA., (© 2022 National Society of Genetic Counselors.)

We have identified a mutation in the zebrafish gene claudinj generated by retroviral integration. Mutant embryos display otoliths severely reduced in size, no response to tapping stimulus, and an inability to balance properly suggesting vestibular and hearing dysfunction. Antisense in situ hybridization to the cldnj gene showed expression first in the otic placode and later asymmetric expression in the otic vesicle. Morpholino inhibition of claudinj expression showed similar defects in otolith formation. Phylogenetic analysis of claudin sequences from multiple species demonstrates that claudinj was part of a gene expansion that began in the common ancestor of fish and humans, but additional fish specific gene duplications must have also occurred.