Journal of Genetic Counseling最新文献

Educational use of clinical simulation is a way for students to immerse themselves within a realistic yet safe and structured environment as they practice clinical skills. It is widely used in healthcare training and evaluation, and there are best practices for design, implementation, debriefing, and assessment. An increasing number of genetic counseling graduate programs use simulation in various ways, ranging from role-plays to working with professional simulated/standardized patient (SP) actors. At this time, there is very little consistency across programs, research on the approaches, and standards by which simulation is incorporated into training. Simulation is an understudied but promising approach for genetic counselor (GC) education and assessment. After graduation, GCs demonstrate their competence as entry-level providers through American Board of Genetic Counseling (ABGC) multiple-choice examination (MCE), along with their participatory clinical encounters from graduate training. Data from genetic counseling and other professions highlight the limitations and biases of MCEs, suggesting they not only fail to accurately capture competency, but also that they disadvantage underrepresented individuals from entering the field. In addition, MCEs are limited as a tool for assessing nuanced counseling and communication skills, as compared to more quantitative scientific knowledge. We propose that innovative, evidence-based approaches such as simulation have the potential to not only enhance learning, but also to allow GCs to better demonstrate competency during training and in relation to the board examination. Collaborative approaches, research, and funding are needed to further explore the viability of routinely incorporating simulation into GC training and assessment.

The COVID-19 Pandemic placed many challenges on the healthcare system. As healthcare providers were stretched thin and clinics were closed to any non-essential personnel, including learners, educational programs across the country scrambled to meet the needs of their students. In response to restrictions placed on traditional in-person clinical training, the University of Michigan Genetic Counseling Program (UMGCP) designed a Clinical Bootcamp (Bootcamp); a two-weeklong, blended educational activity using a framework of case-based learning (CBL) (McLean, 2016). Journal of Medical Education and Curricular Development, 3, JMECD.S20377). Herein is a description of the theory behind the design as well as specific details of the activities and evaluations to aid implementation and ideas for future applications. Activities developed for the Clinical Bootcamp retain relevance when clinical sites and experienced clinical supervisors are limited resources. We believe the Bootcamp can serve as a tool to expedite the transition of clinical skills to a new setting, allowing students to engage more fully upon entering a new clinical space, leading to optimal use of supervisors' time and experience, and allowing students to maximize the benefit of their time in clinic.

Transgender and gender diverse (TGD) individuals are a significant yet underrepresented population within genetic counseling research and broader LGBTQI+ health studies. This underrepresentation perpetuates a cycle of exclusion from the production of medical knowledge, impacting the quality and equity of care received by TGD individuals. This issue is particularly poignant in cancer genetic counseling, where TGD individuals with elevated cancer risk receive risk assessment, counseling, and referral to support based on risk figures and standards of care developed for cisgender individuals. The experiences of TGD individuals navigating inherited cancer syndromes remain largely undocumented in medical literature, posing challenges to the provision of inclusive care by genetics providers. To bridge this knowledge gap, we conducted a cross-sectional qualitative study. Nineteen semi-structured interviews were held with gender diverse adults having hereditary cancer syndromes, family histories of such syndromes, or personal histories of chest cancer. Our study employed thematic analysis using combined inductive and deductive methods to illuminate how hereditary cancer care intersects with participants' gender identities, gender expression, and gender-affirming care experiences. Participants reflected on care experiences that felt affirming or triggered gender dysphoria. Participants also discussed the interplay between risk-reducing mastectomy and top surgery, exploring co-emergent dynamics between cancer risk management and gender expression. Significantly, participants identified actionable strategies for healthcare providers to enhance support for gender diverse patients, including the mindful use of gendered language, collaborative decision-making, and conveying allyship. These findings offer valuable insights into tailoring genetic counseling to meet the unique needs of TGD individuals, advancing the path toward inclusive and appropriate care for LGBTQI+ individuals with hereditary cancer syndromes.

Counseling techniques are an important component of genetic counseling training and are focused on the person-centered counseling philosophy. While this has a long tradition within the profession and underpins the empowerment goal, it should not limit consideration of the potential benefits of education on other psychotherapeutic approaches such as the cognitive philosophy. The goal of empowerment in genetic counseling requires patients to receive information in a way that is accessible to them and to make sense of it in relation to their own health, lifestyle, and family information. This assimilation of new information is a complex cognitive process, and yet it is one that genetic counselors do not routinely actively facilitate. Rather the counseling component of genetic counseling has traditionally focused on emotionally supporting the patient which is driven by the person-centered philosophy that is covered in genetic counseling training. This paper argues for the potential for adopting more cognitive approaches informed by cognitive–behavioral therapy (CBT) and acceptance and commitment therapy (ACT), as these short interventions can have wide impact, including engaging patients who do not want to discuss feelings, helping people to make sense of information (not just gain knowledge), and helping people to change the relationship they have with their thoughts. This paper advocates for an introduction to CBT and ACT to be incorporated into prequalification training and for more advanced training to be available to postqualification genetic counselors.

There are limited studies regarding the attainment of the Accreditation Council for Genetic Counseling Practice-Based Competencies by genetic counseling students who complete clinical rotations in an in-person setting versus in a remote setting that incudes telephone and/or video patient encounters. This study explored the perceptions of 17 patient-facing genetic counselors who had served as supervisors for genetic counseling students regarding student attainment of practice-based competencies in in-person compared to remote rotations. Participants were recruited through an American Board of Genetic Counseling eblast and were required to have at least 2 years of clinical experience and experience providing genetic counseling supervision for at least one in-person rotation and one remote rotation. Four focus groups were created comprising genetic counselors from various practice disciplines. Discussion focused on potential differences and similarities in supervisor perceptions of student attainment of each clinical practice-based competency, and whether there were any concerns about students being able to attain each competency in remote rotations. Overall, participants discussed that genetic counseling students' attainment of clinical competencies through remote rotations was comparable to in-person rotations; however, 15 themes were identified illustrating differences reported by participants in how they observed these skills being performed by students in in-person versus remote clinical settings. The findings of this study highlight important considerations when developing a remote rotation, as well as ways in which certain clinical skills may be further enhanced through a combination of both in-person and remote clinical experiences. A noted limitation of remote rotations is that students have less of an opportunity to interact with other providers, and so may require other opportunities for interprofessionalism and to understand their role as part of a larger organization. Further study is required to elucidate differences between telephone and video clinics, as well as potential differences pertaining to various specialty areas of practice.

Opportunities for genetic counselors to work in a variety of practice settings have greatly expanded, particularly in the laboratory. This study aimed to assess attitudes of genetic counselors working both within and outside of the laboratory setting regarding (1) the re-wording and/or expansion of key measures of genetic counselors' competency, including practice-based competencies (PBCs) and board examination, to include laboratory roles, (2) preparation and transferability of competencies developed in master's in genetic counseling (MGC) programs to different roles, (3) need of additional training for genetic counselors to practice in laboratory settings, and (4) preferred methods to obtain that training. An e-blast was sent to ABGC diplomats (N = 5458) with a link to a 29-item survey with 12 demographic questions to compare respondents to 2021 NSGC Professional Status Survey (PSS) respondents. Statistical comparisons were made between respondents working in the laboratory versus other settings. Among 399 responses received, there was an oversampling of respondents working in the laboratory (52% vs. 20% in PSS) and in non-direct patient care positions (47% vs. 25% in PSS). Most respondents agreed the PBCs were transferable to their work yet favored making the PBCs less direct patient care-focused, expanding PBCs to align with laboratory roles, adding laboratory-focused questions to the ABGC exam, and adding laboratory-focused training in MGC programs. Most agreed requiring post-MGC training would limit genetic counselors' ability to change jobs. Genetic counselors working in the laboratory reported being significantly less prepared by their MGC program for some roles (p < 0.001) or how the PBCs applied to non-direct patient care positions (p < 0.001). Only 53% of all respondents agreed that NSGC supports their professional needs and others in their practice area, and genetic counselors working in the laboratory were significantly less likely to agree (p = 0.002). These sentiments should be further explored.

Providing welcoming, inclusive, and culturally competent care is essential for genetic counselors (GCs) to serve the needs of all patients, including transgender and nonbinary (TGNB) individuals. Inclusive language creates welcoming healthcare spaces and improves health outcomes for TGNB individuals. Training on gender-affirming healthcare can increase knowledge, comfort, and self-efficacy working with TGNB patients. Using a mixed-method survey, this study assessed 65 GCs' gender-inclusive communication practices and elucidated reasons for discomfort using language to determine how language builds trust and fosters patient-provider relationships, ascertain differences between specialties, and identify potential gaps in education and professional development. This study found that approximately one-third of GCs are comfortable using gender-inclusive language and just over half regularly use it with patients. Most GCs do not share their pronouns or ask patients theirs, which was not correlated with comfort levels or frequency of using gender-inclusive language. There were no significant differences based on specialty. Thematic analysis of open responses revealed GCs used gendered language to promote shared language and for clarity, some mentioning sex assigned at birth was relevant for risk assessment. Most felt the impact of gendered language depended on the patient's perspective. Twenty-five percent noted gendered language was familiar for most patients and 40% recognized negative impacts on TGNB individuals. Most GCs desired more gender-inclusivity training even though >95% had some type previously. Those who had gender-inclusivity training in their genetic counseling program were more comfortable using gender-inclusive language and were more likely to share their pronouns with patients. This study adds to the growing body of literature demonstrating GCs' desire for more gender-inclusivity education and highlights the potential importance of having this education integrated into genetic counseling training programs. GCs should continue to incorporate gender-inclusive language into their practice in concordance with the tenants of the Reciprocal Engagement Model.

Non-paternity (NP) is a challenging dilemma faced by genetics providers and there is little consensus on whether this finding should be disclosed. Discussions in the literature are highly theoretical, with limited research regarding how disclosure decisions are enacted in practice. We explored genetic counselors' (GCs) clinical experiences with NP to understand if, how, and why this finding is communicated. Our semi-structured interviews with genetic counselors in the United States and Canada were analyzed using reflexive thematic analysis to analyze data inductively, describe themes, and present a meaningful interpretation of the data. Eighteen participants who responded to list-serv messages were interviewed. Our framework describes five salient themes: (1) GC-lab relationship: the GCs awareness of laboratory processes such as quality control metrics that can uncover NP findings and the way in which a finding of NP was disclosed by the laboratory had an impact on disclosure decisions. This triggered a decision-making trajectory that involved (2) consultation, (3) ethical reasoning, and (4) practical constraints. GCs frequently consulted other professionals during decision-making. These conversations impacted disclosure decisions with some consultations carrying greater weight than others. GCs weighed moral concepts of patient autonomy, medical relevance, and preventing harm to rationalize decisions. Access to patients and documentation requirements often dictated how disclosure occurred. Finally, once a decision had been made and enacted, GCs used the experience to reconsider their approach to (5) consenting in future cases, with some GCs altering their pre-test counseling to always include a discussion of NP. Although NP scenarios are frequently unique in context, our findings demonstrate several common decision-making factors GCs harness to navigate the identification of NP through clinical genetic testing.

Despite diversity initiatives, the genetic counseling profession continues to exhibit limited racial and ethnic diversity, with relatively stagnant representation of Black, Indigenous, and People of Color (BIPOC) individuals. Prior research has found that BIPOC high school and college students are less likely to be aware of genetic counseling and learn about it later than their white peers. Financial barriers and familial discouragement based on a preference for medical school may disproportionately impact BIPOC applicants. Here, we report the first set of results from a longitudinal constructivist grounded theory study exploring the training experiences of BIPOC genetic counseling students. Through reflexive thematic analysis of semi-structured interviews conducted with 26 first-year BIPOC genetic counseling students, we identified five themes pertaining to participants' paths to enrolling in a genetic counseling program: (1) Deciding to pursue genetic counseling, (2) Family's reaction to genetic counseling, (3) Deciding where to submit applications, (4) Barriers during admissions, and (5) Ranking programs. Participants discovered genetic counseling later in their academic journey, often necessitating gap years to complete admissions requirements. Limited guidance from advisors was commonly cited as a barrier by first-generation college students. Family support seems to be a key factor in participants' successful pursuit of genetic counseling, but participants described challenges explaining the career, particularly to parents who did not speak English. In addition, some participants encountered resistance about changing prior plans to go to medical school. Finally, while participants prioritized cost and location in their initial decision about where to submit applications, their ranking of programs was heavily influenced by experiences during interviews, where they favored conversational interviews and evaluated if they would "fit in" at the program. These findings underscore the need for proactive measures, such as early exposure initiatives, mentorship programs, and resources to facilitate family support, to promote diversity in genetic counseling.

Health professional educators routinely utilize simulation to prepare students for practice. However, there is little evidence to show whether simulation enhances learning for genetic counseling students. This study aimed to (i) develop simulation learning outcomes and standardized clients for genetic counselor student education and (ii) evaluate students' experiences of learning from face-to-face and virtual simulation in the first week of training in an Australasian master of genetic counseling program. Using the principles of co-design, eight experienced genetic counselors from across Australasia attended an online discussion and one-to-one meetings to develop simulation learning outcomes and build detailed authentic standardized clients. Six learning outcomes were identified: establishing an effective counseling relationship, eliciting information, assessing need, delivering difficult news and helping clients cope with complex emotions, effective communication and facilitating adaptation. Standardized clients were mapped to the learning outcomes and other requirements of the program. Between 2019 and 2022, 106 first year students participated in face-to-face or virtual simulation workshops with two standardized clients on Day 5 of their training. Following the experience, 103 students completed an anonymous survey using a modified version of a validated satisfaction with simulation scale (n = 49 face-to-face in 2019 and 2020 and n = 54 virtual in 2021 and 2022). Responses were analyzed using descriptive statistics and content analysis. Mean satisfaction overall was 95.9% (SD 3.5), 96.2 (SD 4.0) face-to-face, and 95.8 (SD 3.7) virtual. Overall, responses indicated that simulation-based learning and working with standardized clients was a valuable learning experience (100%), developed communication skills and created a sense of reality (99%). For a minority of participants (n = 4), the simulation was too challenging. Key learning related to consolidation of counseling skills, reflective practice, and preparation for clinical placement. In conclusion, exposing novice student genetic counselors to authentic clinical scenarios using standardized clients in face-to-face or virtual classrooms enhanced clinical learning.