Journal of Genetic Counseling最新文献

Genetic testing is increasingly utilized in the diagnosis and management of pediatric epilepsy, yet its personal impact on families remains underexplored. This study evaluated the personal utility of genetic testing based on caregiver-reported experiences. Caregivers of 127 patients who underwent multi-gene panel testing between 2013 and 2020 completed an online questionnaire assessing satisfaction, decisional regret, family planning, coping, emotional effects, and open-text feedback. Most participants reported high satisfaction with care (85%), no decisional regret (65%), and strong agreement that testing was the right decision (97%). Caregivers of children with a genetic diagnosis reported better coping and higher certainty compared to those without a diagnosis. Content analysis of participant feedback emphasized the need for more empathetic communication, clearer explanations of test result implications, more consistent follow-up, and improved access to support resources. These findings highlight the personal utility of genetic testing in pediatric epilepsy and underscore the importance of supporting families' diverse experiences throughout the diagnostic process.

Genetic counseling plays an important role in supporting individuals and families in understanding and adapting to the clinical and/or psychological implications of genetic contribution to a condition. With the rapid expansion of genomic testing and the integration of genetic services across specialties, there is a growing demand for genetic counseling; this means that evidence supporting its effectiveness is essential. Demonstrating the efficacy of genetic counseling remains challenging due to methodological variability across studies, including diverse study designs, small sample sizes, various delivery models, and multiple measures of success. A meta-analysis is a statistical technique that combines results from multiple studies to provide more precise estimates of effect sizes and uncover patterns that may not be evident through individual studies. This article explores the role of meta-analyses in genetic counseling, highlighting their utility to synthesize evidence from complex interventions, heterogeneous research designs, and disparate outcomes. The article provides introductory methodological guidance for researchers, drawing on established best practices such as PRISMA and the Cochrane Handbook, and provides an overview of each step in conducting a meta-analysis tailored to genetic counseling. The article includes a review of existing meta-analyses in genetic counseling, highlights key findings, and provides an overview of methodological particularities. It advocates for the development of core outcome sets (COS) to enhance standardization, as well as greater methodological rigor and transparency in future research. Training in meta-analytic methods, improved reporting practices, and a genetic counseling specific framework for meta-analyses and systematic reviews is also discussed. This article supports an increased use of meta-analyses as a tool for advancing genetic counseling research by generating more synthesized results from individual studies that can help guide clinical practice, training, and policy development.

Lesbian, gay, bisexual, transgender, and queer/questioning (LGBTQ+) healthcare professionals frequently navigate complex dynamics related to their professional identities, including disclosure, advocacy, and experiences of minority stress. This qualitative study explored how LGBTQ+ genetic counselors manage their professional identities, including decisions about disclosure, advocacy and representation, and encounters with discrimination, within workplace and broader sociopolitical contexts. Twelve LGBTQ+ genetic counselors practicing in the United States participated in semi-structured interviews about their workplace experiences and identity management processes. Using a constructivist framework and reflexive thematic analysis, we conceptualized three overarching themes: (1) Navigating disclosure—Environmental signals and professional outness; (2) The burden and opportunity of being “The LGBTQ+ Expert”; (3) Enduring microaggressions and workplace disillusionment. Participants described ongoing assessments of risk and benefit in disclosure decisions, balancing authenticity with professionalism, and navigating institutional and sociopolitical pressures. They reported that advocacy and visibility often brought both pride and additional labor, and that microaggressions and performative inclusivity contributed to chronic disillusionment. These findings underscored the importance of understanding disclosure dynamics and implementing strategies to promote inclusion, belonging, and equity for LGBTQ+ professionals in genetic counseling.

Prenatal detection of mosaicism in chorionic villus sampling (CVS) poses significant challenges for genetic counseling due to difficulties in predicting fetal involvement and clinical outcomes. Even when mosaicism is confined to the placenta (CPM), there remains an elevated risk of adverse outcomes, including preterm birth and low birth weight. These uncertainties regarding diagnosis and prognosis complicate clinical decision-making and may have a profound psychological impact on expectant parents. Thus, this qualitative study aimed to explore how parents experience the diagnosis and navigate pregnancy following a prenatal diagnosis of CPM. The study was conducted within Denmark's national healthcare system from January 2023 to November 2024. During this period, 14 semistructured interviews were carried out with 24 participants (10 joint interviews with both parents, four interviews with the mother only) who had received a prenatal CPM diagnosis and continued pregnancy. Interviews took place approximately 6 months after birth and were analyzed using thematic analysis. Uncertainty was central to parents' experiences of CPM, varying in intensity across individuals and over time. Three overarching themes were developed to explore this uncertainty: (1) Sources of uncertainty, included the complexity of mosaicism, probabilistic risk, and ambiguous information; (2) Impact of uncertainty, reflected fears about fetal health and emotional strain on parents; and (3) Managing uncertainty, involved both problem-focused strategies (e.g., information-seeking) and emotion-focused strategies (e.g., distancing, seeking support, and maintaining hope). Additionally, clear, empathetic communication from healthcare professionals supported parental coping, while ambiguous or inconsistent messaging intensified uncertainty. The birth of a healthy baby was a significant relief, though uncertainty and worry continued to linger for some. These findings highlighted the central role of uncertainty in parental experiences of CPM and can inform genetic counseling approaches to address this uncertainty and support adaptive coping throughout pregnancy.

Increased detection of variants of uncertain significance (VUS) from clinical genomic testing has brought about more frequent variant reclassifications which have the potential to impact patient care and well-being. However, the lack of best practice guidelines on communicating reclassified results to patients and limited genetic counselor (GC) bandwidth has led to inconsistent disclosure practices and potential inequities in patient care. This cross-sectional study aimed to capture patient preferences for communication of VUS reclassifications. We surveyed 224 adult patients and parents/primary caregivers of pediatric patients with a VUS result from a general genetics clinic. The online survey included questions on preferred disclosure methods for VUS results downgraded to (likely) benign (dVUS) versus upgraded to (likely) pathogenic (uVUS), and perceived benefits of these methods. For dVUS, the largest group of participants preferred written disclosure (52.7%) with email being the most favored modality (71.4%). However, those with a non-English primary language and lower education preferred verbal disclosure (p = 0.015 and p = 0.005 respectively). For uVUS, the largest proportion of participants (51.3%) preferred a sequential combination of written followed by verbal disclosure, with phone call (72.3%) and email (70.5%) being the preferred verbal and written modalities, respectively. Participants favored a verbal disclosure component for uVUS more than for dVUS (p = 0.002). Perceived benefits of a written disclosure included providing documentation (71.4%) and clarity of information (70.5%) while the primary benefit of verbal disclosure was the ability to ask questions (82.7%). Overall, most patients found written disclosure sufficient for dVUS and preferred a sequential combination of written followed by verbal disclosure for uVUS, suggesting a need to process information before speaking with a clinician. This study offers patient-driven insights on optimizing communication methods for VUS reclassification disclosures, aiming to minimize GC burden and patient care disparities.

Indications for germline genetic testing (GT) for hereditary cancer predispositions have increased; however, a critical shortage of genetic counselors (GCs) necessitates the implementation of alternative delivery models. Here, we present the design and implementation of a coordinator-based alternative GT delivery model, called Fast-Track, embedded in a comprehensive cancer genetics program with oversight by GCs. The Fast-Track Program includes visits with clinical genetics coordinators (GCCs) who are trained by GCs in cancer genetic pre-test education and testing. Referrals received to the Smilow Cancer Genetics and Prevention Program (SCGP) are reviewed and triaged by GCs; patients that meet National Comprehensive Cancer Network (NCCN) guidelines for GT are then assigned to the Fast-Track Program. Patients are shown an educational video, which was created by the SCGP and have GT coordinated by the GCC. All cases are reviewed by a GC after the initial visit, regardless of whether GT is completed, for appropriate medical management recommendations. All patients with pathogenic/likely pathogenic variants (PGVs) identified or with complicated results are scheduled with a GC for result disclosure, while remaining patients have disclosure by GCCs. The Fast-Track Program was implemented in June 2023, and this report includes data from 6/12/2023 to 3/29/2024. During this 9-month period, 415 patients were seen in the Fast-Track Program and 12.3% of patients tested had PGVs identified. Mean days from the referral date to the appointment date were significantly shorter for the FT program compared with the standard GC pipeline (21.92 and 90.14 days, respectively) (p < 0.001). A coordinator-based genetics delivery model has been successful in expediting GT visits and is expanding at our institution. Oversight by GCs is essential to ensure standard-of-care delivery for cancer GT in the precision medicine era. Future work evaluating additional quality-of-care outcomes, such as patient satisfaction, will be essential to fully contextualize this model's impact.

While whole exome sequencing (WES) in pregnancy for fetal structural anomalies (FSA) has become increasingly feasible in Australia, parents' experiences of undergoing WES for FSA are poorly understood. This study explored the experiences of participants undergoing prenatal WES for FSA in Australia. Forty expectant parents from 28 parent–fetus trios were interviewed prior to receiving WES results, and interviews were analyzed using inductive content analysis. Participants consistently expressed a desire for as much information as possible about their unborn child (n = 17), describing this as a “quest for knowledge.” The waiting period for results was identified as an especially difficult and emotionally taxing aspect of WES during pregnancy (n = 12). Overall, participants reported mostly positive experiences with healthcare professionals, noting the importance of compassionate and supportive care (n = 21). Many couples also considered termination of pregnancy as a possible outcome if a diagnosis was confirmed through WES (n = 13). These findings suggest that a nuanced understanding of participants' experiences can help guide clinical practice. Improvements may be achieved by expediting testing processes, ensuring supportive and compassionate healthcare interactions, and facilitating sensitive discussions regarding termination of pregnancy if families feel ready to engage with this potential option. The future of genomic sequencing in pregnancy will rely on providing supported access to clinical testing and ensuring laboratories deliver fast, accurate results during this critical period for prospective parents.

Genetic counseling supervision (GCS), a structured process in which a professional supports a supervisee through reflection, case discussion, and skills development, plays a crucial role in ensuring the quality and effectiveness of genetic counseling services worldwide. Despite its advantages, the implementation and consistency of GCS practices vary significantly across different regions, leading to disparities in the quality of genetic counseling services globally. The research was based on interviews with key professionals recognized as representatives of genetic counseling from diverse regions, including America, Europe, Asia, Africa, and Oceania. Data were analyzed using reflexive thematic analysis, identifying three overarching themes: (1) Historical and Structural Foundations of Access to GCS, including professional origins and institutional pathways, recognition of the profession, and policy, governance, and regulatory frameworks; (2) Meanings, Functions, and Perceived Value of GCS, encompassing its protective function against burnout, diversity of definitions and scope, and perceived contributions to practice quality; and (3) Forces Shaping the Implementation of GCS, covering genomics and increasing biomedical complexity, constraining pressures such as resources and workload, and enabling factors, such as networks, education, and digital solutions. These results indicate a promising shift toward broader recognition and integration of GCS, offering valuable insights for policymakers, genetic counselors and other healthcare professionals, and contributing to discussions on informed decision-making and international collaboration.

The Reciprocal Engagement Model of Supervision (REM-S) draws a parallel between the relationships genetic counselors establish with their patients and those they establish with their supervisees, in both cases highlighting the need for a strong working alliance and clear communication. However, even when supervisors strive to create a positive environment, the hierarchical and professional gatekeeping nature of the relationship may be anxiety-provoking for students. Black, Indigenous, and People of Color (BIPOC) students may be particularly impacted by this power differential due to their marginalized identity. The purpose of this article is to investigate the experiences of BIPOC genetic counseling students during their supervised clinical rotations and to propose interventions for supervisors to implement that enhance psychological safety and student learning. We conducted semi-structured interviews with 25 participants who were part of a longitudinal constructivist study investigating the training experiences of BIPOC genetic counseling students. Using reflexive thematic analysis, we identified relational and structural factors that impacted the participants' experiences. Relational factors included whether the supervisor was perceived as supportive and as modeling a growth or judgment mindset. Structural factors related to the rotation included whether it was well-organized and allowed the student independence during counseling sessions. Structural factors related to feedback included the style, content, and timing of feedback. Due to the supervisory power dynamic, relationships between genetic counselors and their students are different than those with their patients, and we recommend integrating literature regarding psychological safety with the REM-S to create a learning environment that encourages the interpersonal risk-taking needed to learn clinical skills. In addition, we propose a system for co-creating relevant, personalized SMART goals that integrate the PBCs and rotational activities to enhance student learning. This framework for SMART supervision can be implemented in a wide range of contexts to create a more equitable supervisory experience.

The alternative service delivery model of group genetic counseling has been found to have similar patient outcomes, shorter patient wait time, and a more time-efficient patient–practitioner interaction compared to the traditional one-on-one model. Despite these documented benefits, there is limited research regarding the experience of group genetic counseling from the clinician's perspective. This mixed-methods study explored where and how the group genetic counseling service delivery model is being used, the experiences of clinicians, and insight into implementation. This study utilized quantitative data obtained from secondary data analysis of the 2024 Professional Status Survey (PSS) of the National Society of Genetic Counselors (NSGC). Using a framework of interpretive description, qualitative data were collected from semistructured interviews of seven genetic counselors based on their experience providing group genetic counseling. Re-analysis of data from the PSS revealed group methods are utilized in a range of specialties, across all NSGC practice regions, and in a variety of environments from hospitals to commercial laboratories. From participant interviews, four core themes were identified: (1) Decision factors in implementation of group genetic counseling; (2) Perceived benefits of group genetic counseling; (3) Perceived limitations of group genetic counseling; and (4) Recommendations for the application of group genetic counseling. Clinician attitudes were generally favorable, citing enhanced efficiency, improved access to care, and a positive patient experience. Perspectives on telehealth group genetic counseling are described for the first time. Notable administrative barriers, such as increased follow-up and difficulty triaging and scheduling, were discussed, as well as suggestions to surmount these barriers. Findings highlight the importance of thoughtful implementation of this alternative service delivery model, considering the context and workflow, from scheduling to documentation, to be successful.