Journal of Genetic Counseling最新文献

Carriers for hemophilia are at risk for bleeding despite normal or mildly reduced factor 8 or factor 9 activity levels. Genetic testing is necessary to determine carrier status in those at risk and early identification of carriers can inform their bleeding risk. The aims of this single-center retrospective study were to determine the uptake of genetic testing in children at risk to be hemophilia carriers and identify barriers to completion of testing. We identified 64 unique at-risk children assigned female sex at birth under 18 years old, with at least one caregiver participating in a visit between June 2019 and July 2023 with a genetic counselor with expertise in hemophilia. Of all those at risk, 27% (17/64) had undergone genetic testing prior to having genetic counseling at our center, at a median age of 5 years. Of those who had not yet had genetic testing (47/64): insurance prior authorization was initiated for 49% (23/47), testing was completed for 28% (13/47) at a median age of 11 years, and factor activity levels were known or drawn after the visit for 36% (17/47). The primary reason (14/24, 58%) for not initiating insurance prior authorization was not having a known family variant. Because carrier testing for X-linked disorders standardly involves targeted family variant testing rather than full gene testing, increasing the accessibility of carrier testing depends on increasing the accessibility and uptake of genetic testing in affected family members, usually individuals assigned male sex at birth, with a diagnosis of hemophilia. The impact of the decision to pursue genetic testing on current or future family members at risk to be carriers could be included in counseling discussions with individuals with hemophilia and their families.

Supervision is a professional activity that provides practitioners with opportunities to reflect on, integrate and learn from work experiences, build resilience, and develop and review their professional identity through reflective conversations with a supervisor and/or peers. Supervision involves a contractual agreement between a supervisor and supervisee (practitioner), that recognizes the accountability of the supervision process to professional and organizational standards and protocols. Incorporating supervision into practice for genetic counselors at all career stages provides a way to develop and strengthen competence and practice and support genetic counselor well-being and client safety. Evidence also suggests that active engagement with effective professional supervision reduces the likelihood of burnout in healthcare workers. Genetic counselors in some parts of the world, including Australia, New Zealand, and the United Kingdom, participate in career-long supervision as a requirement of certification and registration. As the genetic counseling profession expands and diversifies, individuals and professional societies are encouraged to embed the practice of supervision beyond graduate training, establishing a professional culture that values career-long facilitated reflection and learning. We propose the establishment of a global genetic counseling supervision community of practice for genetic counselors interested in developing supervision practices and sharing resources.

Since the first genetic counseling program (GCP) was established in 1969, there has been a proliferation of growth and demand for genetic counselors. Advances in technology, affordable access to genetic testing, public genomic health initiatives, and diversifying clinical and non-clinical roles comprise a dynamic environment that GCPs must respond to. While there is extensive literature regarding how other health professions adapt their curricula to changing environments, this has yet to be documented and explored for genetic counseling. This study aimed to understand how GCPs evolve their didactic curricula to keep up with the rapidly changing professional landscape. An online survey was used to recruit program leadership of fully accredited GCPs for semi-structured interviews. These interviews explored four critical factors of didactic curricular change, including drivers, implementation, barriers, and mechanisms for evaluation after a change has been made. Interview transcripts were analyzed using reflexive thematic analysis based on iterative discussions with prioritization of excerpts from the codes that had been most commonly applied across multiple transcripts. Multiple factors were identified that program leadership must appropriately weigh when making curricular change decisions. The factors that were considered major influences by all participants included national accreditation standards, program stakeholders, sponsoring institutions and local genetic counseling communities, and the genetic counseling profession as a whole. Our data also demonstrated the extensive role program leadership plays in the adaptation of didactic curricula. With GCP leadership constantly identifying, implementing, and evaluating complex didactic curricular change, there is a need for further exploration of this topic and development of genetic counseling specific resources and tools.

Surveillance of individuals at high-risk of pancreatic cancer using CAPS criteria and other expert consensus guidelines may result in earlier pancreatic cancer detection in some cases; therefore, clinicians are responsible for appropriately identifying and referring these individuals to appropriate high-risk pancreas cancer screening programs. This study aimed at assessing the perspective, knowledge, and clinical practices of cancer genetic counselors surveyed nationwide towards identification of individuals at high-risk of pancreatic cancer and utilization of high-risk pancreatic cancer screening programs. One hundred and eighty-nine genetic counselors who listed “Cancer” as their specialty on the NSGC website responded to the survey, which consisted of multiple practice-based, knowledge-based, and clinical vignette-based questions. Almost 70% of the genetic counselors surveyed accurately identified when an individual would be considered for high-risk pancreatic cancer screening, when using 2019 CAPS consensus guidelines as a benchmark. Access to high-risk pancreatic cancer screening programs and increased provider comfort in counseling individuals at high-risk of pancreatic cancer were found to be statistically associated in accurate identification of high-risk individuals in three of the clinical vignettes. Additionally, 60% of genetic counselors reported the majority of high-risk individuals accept a referral for pancreatic cancer screening, which shows a high uptake of patients accepting referrals from genetic counselors. Genetic counselors have high accuracy in determining who is eligible for high-risk pancreas screening; thus, they are the ideal providers for initiating referrals to high-risk pancreatic cancer screening programs. Genetic counseling programs and high-risk pancreatic cancer screening programs should establish a close working relationship to optimize the identification and subsequent referrals of high-risk individuals eligible for pancreas cancer screening.

Familial frontotemporal dementia (fFTD) is an autosomal dominant heritable form of FTD, onsetting in mid-life, characterized by behavioral and personality changes. Children of an affected parent are at 50% risk of inheriting the relevant fFTD gene variant and developing FTD. Genetic testing means a growing group of people are aware of or considering learning their risk status. This knowledge, combined with witnessing parents' symptoms, has implications for reproduction. This study explores attitudes and approaches to reproductive decision-making among those at risk for fFTD. Thirteen qualitative interviews were conducted with at-risk individuals, including parents and non-parents, and analyzed using Thematic Analysis to explore experiences of at-risk relatives of people with symptomatic FTD, attitudes toward reproductive decision-making, and, among parents, influences of genetic risk status on parenting. The themes identified were: (1) Fear of repetition of own experience with symptomatic relatives; (2) Approaches to mitigating repetition; (3) Responses to genetic risk in reproductive decision-making; (4) Accounting for timing in reproductive decision-making; (5) Challenges of disclosing genetic risk to children; (6) Other mitigating factors in reproductive decision-making. Findings highlight the key role of previous experiences with symptomatic relatives in shaping attitudes toward genetic risk status and approaches to managing it in reproductive decision-making. Findings highlight a need for responsive genetic counseling focused on exploring options alongside providing information and signposting to practical legal and financial support. Future research should specifically compare experiences in fFTD with experiences in other heritable neurodegenerative disorders and explore reproductive decision-making for couples where one partner is at risk of fFTD.

Using educational frameworks for learner assessment in genetic counseling (GC) training may help students and supervisors articulate developmentally appropriate clinical skills-based objectives and tasks that align with various stages of training as students work toward achieving entry-level competency. This professional issues case study describes how two GC programs adapted and implemented the RIME (Reporter-Interpreter-Manager-Educator) learner assessment framework, originally designed for medical education, to support and assess students' acquisition of practice-based competencies (PBCs) during clinical fieldwork placements. Each RIME level describes a different set of expectations regarding the skills students should be able to demonstrate based on the level of training they have achieved up to that point in time. In early training, students work mainly on gathering and reporting clinical information (Reporter level). In early to mid-training, students have learned what information to collect from clients and begin to apply the information to generate differential diagnoses (Interpreter level). When students reach the Manager level (typically by mid- to late-training), they can independently develop and implement case management plans tailored to individual cases. The Educator level, which may not be fully attained until after graduation, involves critically evaluating evidence and educating others about new evidence. The following paper describes our experiences incorporating the RIME framework into two GC graduate programs and explains the development of corresponding RIME-based assessment forms that align with the Accreditation Council of Genetic Counseling's 2023 PBCs. Overall, we find that using the RIME framework fosters a growth mindset by enabling students and supervisors to create developmentally appropriate goals and expectations, thereby facilitating assessment and guidance of trainee progress. Despite these perceived benefits, we acknowledge the need for research to evaluate the efficacy of the RIME framework or other learner assessment models in supporting student progression in achieving the GC PBCs.

One key element of evaluating the quality of a genetic counseling session is the measurement of its efficiency, yet limited research exists on how the genetic counseling process relates to time and which elements contribute to improved quality of care. A scoping review was undertaken to document studies that have reported genetic counseling patient care time and provide a landscape of the average patient care time, which factors impact patient care time, and how patient care time relates to experiences and outcomes. Twenty-five studies met criteria and were included. Patient care time was reported variably among the studies included. On average, genetic counseling patient care time was a mean of 60 min (53 min median) for observational studies and control groups in experimental studies and 44 min (41 min median) for intervention groups in experimental studies. Interventions impacting patient care time included pre-genetic counseling education and group genetic counseling sessions. The impact of patient care time on patient experiences and outcomes was rarely evaluated, and therefore, efficiency could not often be assessed in the studies. Studies that reported on patient care time and outcomes were able to draw conclusions such as shorter time did not negatively impact patients and some groups of patients may benefit from longer sessions. Most studies did not analyze the relationship between patient care time and patient experiences or outcomes. Future research should aim to identify factors influencing patient care time, assess the content of genetic counseling sessions, and evaluate patient care time in relation to patient experiences and outcomes. Understanding these aspects could lead to improved efficiency and patient-centered, equitable care in genetic counseling practices.