Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC).

BACKGROUND: Testing for germline pathogenic variants (GPVs) in cancer predisposition genes is increasingly offered as part of routine care for patients with cancer. This is often urgent in oncology clinics due to potential implications on treatment and surgical decisions. This also allows identification of family members who should be offered predictive genetic testing. In the UK, it is common practice for healthcare professionals to provide a patient information leaflet (PIL) at point of care for diagnostic genetic testing in patients with cancer, after results disclosure when a GPV is identified, and for predictive testing of at-risk relatives. Services usually create their own PIL, resulting in duplication of effort and wide variability regarding format, content, signposting and patient input in co-design and evaluation. METHODS: Representatives from UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar programme and Association of Genetic Nurse Counsellors (AGNC) held a 2-day meeting with the aim of making recommendations for clinical practice regarding co-design of PIL for germline cancer susceptibility genetic testing. Lynch syndrome and haematological malignancies were chosen as exemplar conditions. RESULTS: Meeting participants included patient representatives including as co-chair, multidisciplinary clinicians and other experts from across the UK. High-level consensus for UK recommendations for clinical practice was reached on several aspects of PIL using digital polling, including that PIL should be offered, accessible, co-designed and evaluated with patients. CONCLUSIONS: Recommendations from the meeting are likely to be applicable for PIL co-design for a wide range of germline genetic testing scenarios.

Scaling Genetic Counseling in the Genomics Era.

The development of massively parallel sequencing-based genomic sequencing tests has increased genetic test availability and access. The field and practice of genetic counseling have adapted in response to this paradigm-shifting technology and the subsequent transition to practicing genomic medicine. While the key elements defining genetic counseling remain relevant, genetic counseling service delivery models and practice settings have evolved. Genetic counselors are addressing the challenges of direct-to-consumer and consumer-driven genetic testing, and genetic counseling training programs are responding to the ongoing increased demand for genetic counseling services across a broadening range of contexts. The need to diversify both the patient and participant groups with access to genetic information, as well as the field of genetic counseling, is at the forefront of research and training program initiatives. Genetic counselors are key stakeholders in the genomics era, and their contributions are essential to effectively and equitably deliver precision medicine.

Survey of genetic counselors identifies a knowledge gap discerning properly regulated cell and gene therapy trials.

BACKGROUND AND AIMS: As cell and gene therapy (CGT) has grown in availability and scope, more unapproved regenerative medicine is being marketed to the public. It is essential that health care providers have sufficient knowledge and comfort to determine whether treatments are properly regulated and address these topics with patients. Due to the applicability of CGT to genetic disease, genetic counselors could be key in providing education and answering patients' questions about these topics. However, previous studies have focused only on physicians' knowledge and comfort with CGT and unapproved regenerative medicine. The purpose of this study was to assess genetic counselors' self-reported knowledge and comfort discussing these topics with patients and to explore what factors predict increased knowledge and comfort. METHODS: The authors designed an online survey distributed to genetic counselors who were part of the National Society of Genetic Counselors Student Research Program e-mail list. The survey addressed genetic counselors' demographics, practice experience with CGT, education about CGT, knowledge and comfort. RESULTS: The survey was completed by 144 genetic counselors. The best predictor of increased knowledge and comfort was experience discussing CGT in practice. In addition, those who worked at an institution at which CGT trials were offered had greater knowledge and comfort. However, most genetic counselors reported their knowledge was not sufficient to address questions from patients, and most had little-to-no knowledge or comfort determining whether a trial was properly regulated. There was no correlation between education and either knowledge or comfort; however, most participants desired more education about these topics. CONCLUSIONS: This study suggests that genetic counselors who (i) have experience with CGT in practice or (ii) work at institutions at which CGT trials are offered may have better knowledge regarding CGT. These results may help identify individuals and/or institutions in whom increasing knowledge regarding CGT could be beneficial. This is crucial as CGT becomes mainstream, leading to more widely marketed unapproved regenerative medicine. Several gaps in knowledge and comfort were identified, including participants' ability to determine whether a treatment is properly regulated. Further research is needed to better characterize the educational needs of genetic counselors surrounding these topics to address these gaps.

Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.

The increased utilization of clinical genomic sequencing in the past decade has ushered in the era of genomic medicine, requiring genetics providers to acquire new skills and adapt their practices. The change in workplace responsibilities of clinical/medical geneticists (CMGs) and genetic counselors (GCs) in North America, due to the evolution of genetic testing, has not been studied. We surveyed CMGs (n = 80) and GCs (n = 127) with experience in general/pediatric genetics to describe their current practice of clinical tasks and the change in regularity of performing these tasks over the past 5-10 years. Currently, complementarity of responsibilities between CMGs and GCs clearly exists but providers who have been in the field for longer have noted role changes. Trends indicate that fewer experienced CMGs perform physical exams and select genetic tests than before and fewer experienced GCs complete requisitions and write result letters. The frequency of CMGs and GCs who investigate genetic test results, however, has increased. This study provides insight into the changing landscape of clinical genetics practice. Our findings suggest that the roles and responsibilities of CMGs and GCs have shifted in the past decade.

Genetic counselors' utilization of ChatGPT in professional practice: A cross-sectional study.

PURPOSE: The precision medicine era has seen increased utilization of artificial intelligence (AI) in the field of genetics. We sought to explore the ways that genetic counselors (GCs) currently use the publicly accessible AI tool Chat Generative Pre-trained Transformer (ChatGPT) in their work. METHODS: GCs in North America were surveyed about how ChatGPT is used in different aspects of their work. Descriptive statistics were reported through frequencies and means. RESULTS: Of 118 GCs who completed the survey, 33.8% (40) reported using ChatGPT in their work; 47.5% (19) use it in clinical practice, 35% (14) use it in education, and 32.5% (13) use it in research. Most GCs (62.7%; 74) felt that it saves time on administrative tasks but the majority (82.2%; 97) felt that a paramount challenge was the risk of obtaining incorrect information. The majority of GCs not using ChatGPT (58.9%; 46) felt it was not necessary for their work. CONCLUSION: A considerable number of GCs in the field are using ChatGPT in different ways, but it is primarily helpful with tasks that involve writing. It has potential to streamline workflow issues encountered in clinical genetics, but practitioners need to be informed and uniformly trained about its limitations.

Legal age limits in accessing donor information: experiences of donor-conceived people, parents, sperm donors and counsellors.

RESEARCH QUESTION: What are the lived experiences of donor-conceived people, parents, sperm donors and counsellors related to legal age limits on accessing donor information in the Netherlands? DESIGN: A phenomenological study was carried out that included 20 donor-conceived individuals, 15 parents, 6 sperm donors and 5 counsellors. Data were collected through online qualitative in-depth interviews and focus groups. The data were analysed using Dahlberg's Reflective Lifeworld Approach. RESULTS: The results show how: (i) age limits create challenges related to dependency, autonomy and loyalty to parents; (ii) donor information can be important for identity development, which looks different at different ages; (iii) inaccessible information can lead to unfair loss and may be perceived as negative; (iv) relational stability provides a good foundation for dealing with the (in)accessibility of donor information; (v) procedural barriers and age limits increase the inaccessibility of donor information; and (vi) comprehensive counselling is desired for donor-conceived individuals, parents and donors. CONCLUSIONS: This study shows that legal age limits on accessing donor information can lead to several negative consequences. The age limits focus on one individual, which is not appropriate for questions about ancestry that always pertain to a relational network. Counselling should be tailored to the child's needs, and the child's family should be involved. Furthermore, the donor should receive independent counselling.

PrEP and Behavioral Health Treatment Referral Among HIV Test Counselors in Miami-Dade County: A Rapid Qualitative Study Using the Consolidated Framework for Implementation Research.

HIV test counselors are well positioned to refer individuals to pre-exposure prophylaxis (PrEP) and behavioral health treatments. HIV test counselors in Miami-Dade County (N = 20), a priority jurisdiction for Ending the HIV Epidemic, completed interviews to assess determinants of PrEP and behavioral health treatment referrals. To identify determinants, we used a rapid deductive qualitative analysis approach and the Consolidated Framework for Implementation Research (CFIR). Identified determinants sometimes served as facilitators (e.g., relative priority, leadership importance) and sometimes as barriers (e.g., lack of access to knowledge and information, available resources for referrals) to making referrals. We also observed differences in determinants between PrEP and behavioral health referrals. For example, complexity (perceived difficulty of the referral) was a barrier to behavioral health more often than PrEP referral. Our findings suggest that determinants across many CFIR domains affect referral implementation, and the corresponding need for multiple implementation strategies to improve implementation of PrEP and behavioral health referrals in the context of HIV testing.

A Preliminary Exploratory Factor Analysis of the BDSM Counselor Competency Scale.

BDSM practitioners represent a large sexual minority group often overlooked, misunderstood, and unnecessarily pathologized by mental health clinicians. Although developing cultural competence for diverse and marginalized populations is widely understood to be a core component of delivering efficacious therapeutic services that can counteract these stigmatizing mental healthcare experiences, no measures currently exist that assess clinicians' self-reported competence to work with BDSM practitioners. Previous measurement work has been done to establish self-report competency scales for clinicians working with other sexual and gender minority groups, but no such scales exist for working with BDSM practitioners. In the current study, we adapted a version of the Sexual Orientation Counselor Competency Scale (SOCCS) to measure clinicians' self-reported competence to work with BDSM practitioners and did a preliminary exploratory factor analysis of the new scale (n = 124). After an initial 24-item administration, principal axis factoring of our final 17-item solution revealed two latent factors (attitudes and skills/knowledge) consistent with the 2013 SOCCS and the theoretical constructs of cultural competency. The BDSM Counselor Competency Scale (BDSM-CCS) can help clinicians, practices, agencies, and training programs track self-reported cultural competence with the BDSM population. Future research directions for scale development and clinical and training applications are discussed.

Experiences of breastfeeding peer counseling among women with low incomes in the US: a qualitative evaluation.

BACKGROUND: Person-centered breastfeeding counseling is a key but often overlooked aspect of high-quality services. We explored women's experiences of the Breastfeeding Heritage and Pride™ program, an evidence-based breastfeeding peer counseling program serving women with low incomes in the United States. METHODS: This study was conducted through an equitable community-clinical-academic partnership and guided by the World Health Organization (WHO) quality of care framework for maternal and newborn health, which highlights three domains of positive experiences of care: effective communication; respect and dignity; and emotional support. In-depth interviews were conducted with a purposive sample of women participating in the Breastfeeding Heritage and Pride™ program. Women were asked to describe their experiences with the program including examples of when good quality counseling was or was not provided. Each interview was conducted in English or Spanish, audio-recorded, and transcribed verbatim. Data were analyzed using reflexive thematic analysis. Once themes were generated, they were organized according to the three care experience domains in the WHO quality of care framework. RESULTS: Twenty-eight in-depth interviews were conducted with a racially/ethnically and socio-economically diverse sample of women. Three themes described effective communication practices of peer counselors: tailoring communication to meet women's individual needs; offering comprehensive and honest information about infant feeding; and being timely, proactive, and responsive in all communications across the maternity care continuum. Two themes captured why women felt respected. First, peer counselors were respectful in their interactions with women; they were courteous, patient, and non-judgmental and respected women's infant feeding decisions. Second, peer counselors showed genuine interest in the well-being of women and their families, beyond breastfeeding. The key theme related to emotional support explored ways in which peer counselors offered encouragement to women, namely by affirming women's efforts to breastfeed and by providing reassurance that alleviated their worries about breastfeeding. These positive experiences of counseling were appreciated by women. CONCLUSIONS: Women described having and valuing positive experiences in their interactions with peer counselors. Efforts to expand access to high-quality, person-centered breastfeeding counseling should, as part of quality assurance, include women's feedback on their experiences of these services.

Coffee and conversation: A genuine dialogue on authentic professional learning between genetic counselor educators.

Lifelong learning is a term frequently referred to in the training and continuing professional development of genetic counselors. It implies the ability to continuously engage in self-motivated reflection to identify knowledge gaps and develop a learning plan to address identified needs or interests. In contrast to this definition, the path to continuing professional development for most genetic counselors involves attendance at conferences; yet much data suggest that other forms of learning are more effective at leading to practice change and improved patient or quality outcomes. These conflicting ideas beg the question: what is professional learning? A dialogue between two genetic counselor educators, both with advanced training in health professional education, shares personal beliefs regarding lifelong learning in the genetic counseling profession. This discourse represents an authentic conversation that was audio-recorded and transcribed with minimal editing to improve clarity and readability. The views presented in this dialogue are highly personal, yet grounded in educational theory. References are provided to those that desire further reading on the topics discussed. Several authentic learning strategies are described, including communities of practice, peer supervision, and personal learning projects. The authors consider ways to increase knowledge acquisition from conference attendance and discuss how learning on the job becomes embedded in practice. As a result of this discourse, the authors hope to inspire genetic counselors to reflect over their continuing professional development and consider their job as a learning environment that presents rich, ongoing, and unique opportunities for growth. The authors invite and challenge readers to identify learning needs and set goals for themselves to address those needs. For those with interest in education, it is hoped that the conversation sparks new or invigorated interest that will lead to novel or more effective learning opportunities with improved outcomes for patients, students, and colleagues alike.

Poor recall of genetics curriculum by medical students highlights barriers to use in clinical practice.

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.

Development of a flipped learning course to deliver and scale molecular variant evaluation education: A quality improvement initiative.

Over the past several decades, molecular genetic testing volumes have grown and testing has expanded from single-gene assays to multigene panels, exome sequencing, and genome sequencing. The number of molecular genetic variants that require manual interpretation has grown simultaneously, resulting in an increased demand for education on molecular variant evaluation (MVE). To meet this growing need, a team of genetic counselors and educational experts undertook a quality improvement (QI) initiative with the objectives of assessing, standardizing, and scaling access to MVE education, without increasing instructor time to deliver the education. Using the Six Sigma define-measure-analyze-improve-control (DMAIC) framework, a flipped learning course with a series of standardized online modules was developed to deliver MVE education in an enduring and accessible format for a diverse group of learners. Outcome measures included the number of online modules developed, the number of individual learners and unique learner groups accessing MVE education, and direct instruction time required to deliver MVE education. Countermeasures to ensure maintenance of educational quality included post-course learner satisfaction scores and performance on competency assessments. Both the total number of learners and the number of unique learner groups accessing MVE education increased, while instructor time required to deliver content per learner decreased. Learner satisfaction scores remained constant and performance on competency assessments improved. The QI initiative successfully scaled MVE education to a diverse group of learners without decreasing learner outcomes or satisfaction. The flipped learning format provides a scalable and flexible educational model for instructors and learners in a rapidly changing environment that often includes remote work and education.

Integrating nutrition and genetic counseling: A case study approach to interprofessional learning.

Interprofessional collaboration is an increasingly important skillset for practicing healthcare professionals including genetic counselors and registered dietitian nutritionists. A multi-part interactive case study activity was created to develop interprofessional skills for graduate students within genetic counseling and medical nutrition training programs at an academic medical center. Feedback from learners who participated in this activity highlights its effect on their post-graduation clinical practice. Additionally, since the implementation of this activity, collaboration between students and faculty members of each program has occurred in other scholarly pursuits, fostering longstanding interprofessional relationships. Similar approaches to interprofessional education could be considered with other healthcare professions or at other institutions as another tool to strengthen practice upon graduation.

Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervision.

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.

Processing the process: Reflections on genetic counselor-led student supervision groups and practical tips for future facilitators.

Genetic counseling graduate students face growth and challenges across a variety of axes both personally and professionally throughout their training. The formation of leader-led supervision groups for second-year genetic counseling students has created a safe space for students to give and receive feedback, process their positionality in complex clinical scenarios and the medical system at large, dissect psychosocial counseling theory, and share personal and professional experiences with the overall aim of supporting their growth. This work requires faculty facilitators who are invested in student growth and operate from a framework of empathy, humanism, curiosity, and vulnerability. The authors share their reflections on stepping into the facilitator role with no prior experience other than their work in clinical genetic counseling in varied practice settings. Common themes across four cohorts of students are presented along with reflections on facilitator growth, consideration of student developmental stages, and the parallel process between providing clinical services to clients and educating students. The authors hope to highlight the value of processing cases, inspire other genetic counselors to engage in this work, and normalize the experiences of those already running genetic counseling student process groups.

What next for "counseling" in genetic counseling training: A co-production workshop exploring how CBT and ACT approaches can contribute to the genetic counseling toolkit.

Counseling techniques are an important part of genetic counseling, and teaching of the humanistic person-centered philosophy has been central to genetic counselor (GC) training. However, other psychotherapeutic approaches, especially cognitive approaches, may also be beneficial for the GC to have in their toolkit. This paper reports on a co-production workshop with newly qualified GCs where the potential for adopting more cognitive approaches informed by cognitive behavioral therapy (CBT) and acceptance and commitment therapy (ACT) was explored. Attendees were taught about the approaches and the rationale for their use in genetic counseling and had a chance to discuss their reactions and ideas for application. The attendees saw great potential for the approaches within their practice, feeling that these short interventions can have a 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. They were able to identify when they already use some cognitive approaches in their practice, and to see how they could build on this to provide better patient care. The paper advocates for an introduction to CBT and ACT to be incorporated into pre-qualification training, and for more advanced training to be available to post-qualification GCs.

A cross-professional competency framework for communicating genomic results.

To ensure genomic medicine is delivered safely and effectively, it is crucial that healthcare professionals are able to understand and communicate genomic results. This Education Innovation describes a nationally agreed, cross-professional competency framework outlining the knowledge, skills and behaviors required to communicate genomic results. Using principles of the nominal group technique, consensus meetings with clinical, scientific and educational experts identified six stages in the return of results process, drafted and iterated competencies. Competencies were then mapped across three levels to acknowledge different degrees of experiences and scopes of practice. The framework was open for consultation with healthcare professionals and patient communities before being published. The finalized framework includes six core competency statements required to communicate genomic results. This framework is designed to be a guide for best practice and a developmental tool to support individuals and organizations. It can be used by healthcare professionals, such as genetic counselors, to identify individual learning needs or to structure the development of training for other healthcare professionals who are increasingly involved in requesting and returning results for genomic tests.

Creation and beta testing of a "choose your own adventure" digital simulation to reinforce motivational interviewing skills in genetic counseling.

Standardized patients and/or role-playing are commonly used for practicing genetic counseling (GC) skills. Use of digital simulation, incorporating gamification elements, would require fewer resources to sustain than standardized patients. This manuscript reports steps taken and the lessons learned from creating a digital "Choose your own adventure" simulation in which students select preferred dialog for a genetic counselor who is seeing an adult patient to discuss genetic testing for the known pathogenic variant that caused familial adenomatous polyposis (FAP) in their father. The case has three endings, one of which is attained by selecting options that are mostly consistent with motivational interviewing counseling techniques. We conducted a preliminary evaluation of our beta version among nine GC students and one educator using a survey to assess acceptability and appropriateness as well as to elicit open-ended feedback. All participants agreed or strongly agreed with statements indicating the case was acceptable, appropriate, and fun. Users particularly appreciated the immediate feedback given throughout the case simulation. Many users wanted more options to select from and listed various other recommendations, including several which would require substantial resources to implement.

Promoting the integration of genetic counseling education and research across the spectrum of learners at a large academic institution.

Genetic counselors are valuable members of research teams and are increasingly taking leadership roles in major research trials. While the field of genetic counseling has explored a doctoral degree several times, the terminal degree is still a master's level. Genetic counseling training programs provide research training, but many genetic counselors desire additional opportunities to develop expertise. To address the gaps in the availability of research training before and after obtaining genetic counseling degrees, we applied for and received a grant centered around three aims: (1) develop an undergraduate minor in genomics and human health with a research component, (2) promote a rigorous genetic counseling research program for training to practice genetic counselors, and (3) initiate a combined PhD program in Molecular, Cellular, Developmental Biology, and Genetics (MCDB&G) with a track in genetic counseling. We describe each of these components and early progress toward these aims. As each individual aim is bearing fruit, the next challenges are implementing more crossover between people in each aim and distilling the lessons learned to see if this program could be replicated at other sites.

Exploring the training needs of inherited cardiac conditions (ICC) nurses: Elucidating role boundaries and competencies for practice in the genomics era.

Nurses represent the largest professional group within the National Health Service (NHS) and are therefore central to the successful integration of mainstreaming genomics into routine healthcare. Inherited cardiac conditions (ICC) nurse roles have been developed in recent years to streamline the care for patients and families affected by an ICC. Like many nurse specialists, ICC nurses' prior exposure to genomics and the wider implications surrounding inherited conditions is limited. The aim of the study was to explore the education needs and support required for ICC nurses to fulfill their role within the genomic medicine era. A convenience sampling approach was adopted to invite ICC nurses working within various NHS Trusts across the United Kingdom to take part. Semi-structured interviews were conducted with ICC nurses (n = 8), which were recorded, transcribed, coded, and analyzed using an inductive thematic analysis approach. Analysis of interview data highlighted four core themes, which were transferrable core competencies; managing genomic information; mixed-modality learning; defining multidisciplinary team boundaries. The study highlights areas for further training and demonstrates the importance of defining competencies and role boundaries within ICC services. The ICC nurses identified the limits of their practice and the complementary role of genetic counselors, indicating the need for both professions within the ICC service and proposing implications for practice.