Journal of Genetic Counseling最新文献

Process studies explore the content and dynamics established during genetic counseling (GC), allowing a greater understanding of what happens. No literature review has specifically examined how family communication of genetic information has been addressed in GC process studies. To fill this gap, a scoping review was conducted. Scopus, Web of Science, PubMed, and PsycInfo were searched, resulting in 21 articles for analysis. Most studies were retrospective (n = 19) and qualitative (n = 15) and involved hereditary cancer syndromes (n = 13). Studies analyzed how family communication of genetic information is addressed in GC by either focusing on patients' experiences and perspectives, or genetic healthcare professionals' (GHP) roles and scope of practice. All studies reported that GHP address family communication with patients, but their practices were heterogeneous and influenced by contextual factors. Practices to address family communication included providing guidance to inform the family (n = 19), materials to support communication (n = 16), psychosocial assessment (n = 11), and additional support (n = 18). Our findings suggest that the approach to family communication in GC draws on both teaching and counseling models, although with greater emphasis on the former. This is consistent with integrated models of GC. Future prospective process studies using observational data could enhance our understanding of patient-professional interactions and their influence on patient decision-making regarding family communication of genetic information.

Cancer genetic services identify individuals that may have a hereditary component to cancer, as it is estimated that up to 10% of cancers are due to a cancer-predisposition gene variant. When an oncology patient has reached the end of life (EOL), genetic counseling and testing may benefit the patient and their family by clarifying hereditary cancer risks. Previous studies have demonstrated that patients at the EOL are underserved in receiving genetics services, and few studies have explored the readiness of genetics providers to work with these patients. This study builds on previous work aiming to better understand the experiences, preparedness, and comfort levels of genetic counselors when working with oncology patients at the EOL. A survey was created in REDCap® and distributed to the National Society of Genetic Counselors listserv. A total of 148 responses, which represents ~10% of clinical cancer genetic counselors, were included for data analysis and were summarized using descriptive statistics. Almost all respondents (92.6%) reported experience with oncology patients at the EOL, with 91.9% being comfortable with and 89.2% feeling prepared to provide genetic counseling to this population. Despite high comfort and preparedness, 77% of respondents desired additional educational training opportunities about providing genetic counseling to oncology patients at the EOL, supporting the need for ongoing education opportunities. The high comfort levels and preparedness reported in this study suggest that genetic counselors are ready and willing to counsel patients facing a terminal diagnosis of cancer and should be further integrated into multidisciplinary teams. Genetic counselors reporting experience with patients at the EOL suggest that patients may be receiving genetics services more frequently than previously reported. As access to genetic services expands, integrating conversations about EOL scenarios into continuing education efforts may better equip genetic counselors to meet the unique needs of this patient population.

Many emerging service delivery models triage genetic counselor time with patients to postgenetic testing, including population genomic screening followed by genetic counseling (GC). To prime patients and help genetic counselors tailor such visits, a previsit (PV) chatbot was created to assess patient understanding, emotional response to, and family communication about genetic results. This study explored patients' perceptions of the PV chatbot and how they would use it. User testing was conducted via videoconference with patients who had completed GC. A codebook thematic analysis informed by Proctor's Conceptual Model of Implementation Research in a postpositivist paradigm was conducted. In total, 16 participants completed user testing, of whom 12 were women and 4 were men with a mean age of 55.4 (range 32–69). Participants had a variety of genetic results out of 78 genes among cancer (PMS2 n = 2; PALB2 n = 4; BRCA2 n = 1) and cardiovascular (LDLR n = 1; MYBPC3 n = 1; DSP n = 1; TTN n = 5; MYH7 n = 1) conditions. Participants reported high acceptability (M = 4.53/5, SD = 0.45) and feasibility (M = 4.43/5, SD = 1.04) of the chatbot. Participants reported liking the chatbot because of its ease of use and anticipated benefit to GC. Participants viewed the chatbot as complementary to GC and shared that the chatbot would have helped prepare them for GC in ways they may not have considered, including inviting a family member to join the appointment. Participants desired more personalization within the chatbot, including responsiveness to their personal/family history, optional supplementary education, and more emotionally supportive language. Some participants described challenges with certain aspects of the chatbot, including the repetitiveness and phrasing of validated scaled measures. Overall, participants perceived the PV chatbot to be of value in educating and preparing them for GC and reflected on how the PV chatbot may have enhanced GC. Many of the perceived benefits of this chatbot are applicable across GC settings.

Parenting a child with a rare undiagnosed genetic condition can impact psychological well-being, including anxiety and health-related quality-of-life. We conducted a multi-site quantitative survey with parents to understand which parent and child characteristics are predictive of poorer psychological outcomes. 1366 surveys were sent out across seven NHS Trusts in England; 383 were returned and included in analysis (27% response rate). We used the GAD-7 to measure parents' generalized anxiety and the PedsQL Family Impact Module (FIM) to measure self-reported physical, emotional, social, and cognitive functioning (the health-related quality-of-life [HRQOL] summary score), communication, worry, daily activities, and family relationships (the family functioning [FF] summary score). Participant characteristics included: the 6-item Brief Resilience Scale to measure parental resilience, a bespoke single question to assess parents' tolerance for uncertainty, the EQ-5D-Y-3L to measure child health-related quality-of-life, two bespoke questions to assess the perceived seriousness/consequences of the child's condition, and standard characteristics questions (e.g., age, ethnicity, education, income). Overall, parental anxiety was low (mean = 5.31; SD = 5.82, range 0–21), although 21.9% had moderate (11.4%) or severe (10.5%) anxiety. A multivariable analysis indicated that higher anxiety scores were significantly associated with younger parental age (p = 0.010), lower education attainment (0.004), lower resilience (p = 0.049), and lower tolerance for uncertainty (p = 0.021). FIM total scores ranged from 0 to 100 (mean = 53.68, SD 20.45). Parents scored lowest on the subscale daily activities (43.68), worry (47.29), communication (51.31), and physical functioning (52.45). Family functioning summary scores were significantly lower for parents of children with developmental disorders compared to other conditions (p = 0.016). Multivariable analysis identified that lower scores (reflecting poorer outcomes) were significantly associated with lower parental resilience and lower tolerance for uncertainty (p < 0.001, respectively). Our findings highlight the significant psychological burden parenting a child with a rare undiagnosed condition can have on some parents and the importance of developing tailored support strategies.

Increased utilization of artificial intelligence (AI) and machine learning (ML) in genomic medicine and genetic counseling necessitates a well-trained workforce. However, research on the attitudes toward and uptake of AI/ML education among genetic counseling graduate programs (GCGPs) is limited. This mixed-methods study investigated the attitudes, preparedness, and future plans of GCGP leadership toward the integration of AI/ML into curricula and its effect on core competency proficiency. In Phase 1, a nationwide survey gathered quantitative responses from 15 GCGP leaders holding diverse academic positions in genetic counseling program curriculum development. There were mixed perceptions about AI/ML integration into curricula, despite frequent encounters with these technologies in academic settings. Respondents viewed AI/ML as least impactful on interpersonal, psychosocial, and counseling skills within the Accreditation Council for Genetic Counseling (ACGC) competencies, highlighting the value of human expertise in these areas. Phase 2 explored the goals, logistics, and barriers of incorporating AI/ML into GCGP curricula over the next 5 years. A second nationwide survey collected demographic information from 18 respondents, of which 5 were interviewed. Reflexive thematic analysis identified nine key themes: Resources and Training for AI/ML Integration, Motivations for AI/ML Integration, Confidence in Leadership Foresight, Formats and Applications of AI/ML Education in GCGPs, Stages of AI/ML Integration, Barriers to AI/ML Integration, Trade-offs to new Curricula, Interpreting Competency Requirements, and Relevant Content and Contexts for Learning. Interviewees highlighted the need for support in the form of resources, training, and guidelines for AI/ML applications in genetic counseling. This study uncovers opportunities for enhancing integration of AI/ML in genetic counseling education, emphasizing the importance of collaboration among organizations, professional societies, and topic experts. Developing a competency framework specific to AI/ML in genetic counseling could promote tool development and dissemination, ultimately increasing the impact of GCGPs in this evolving field.

Despite significant growth of the genetic counseling field, there is still a lack of racial and ethnic diversity among the genetic counseling workforce. Increasing diversity in the genetic counseling profession can only happen if underrepresented groups are informed about careers in genetic counseling. This cross-sectional pre- and post-survey-based study implemented an interactive educational program utilizing an escape room to educate diverse students about the field of genetic counseling. The study assessed factors that influence career choice and pre- and post-surveys to determine how interest in and knowledge of the genetic counseling field changed after learning about the profession. Of the 90 participants, 85.56% identified as Asian, Black, Hispanic, Middle Eastern, or multiple races. Participants indicated that the most important factor when selecting a career is personal satisfaction and the least important is research opportunities. Men valued prestige significantly more than women (p = 0.0091), women valued helping others significantly more than men (p = 0.015), and participants in the BIPOC (Black, Indigenous, and People of Color) group valued flexible location significantly more than White participants (p = 0.019). Undergraduates were more certain about their career path than high schoolers (p < 0.001). After the educational program, familiarity with, interest in, consideration of applying to, and knowledge of the genetic counseling profession increased significantly overall (p < 0.0001, p = 0.0001, p = 0.0004, and p < 0.0001, respectively). When analyzing changes in outcomes within each demographic group, nearly all groups showed a significant increase in each factor. However, knowledge among White participants (p = 0.065) and consideration of applying among male participants (p = 0.09) were exceptions and had no significant increase. This interactive educational program is one example of an effective method to increase knowledge and interest in the field, specifically among individuals of diverse racial and ethnic groups. Future efforts should continue to explore how and when individuals make career choices to better recruitment efforts of diverse individuals.

Genetic counselors (GCs) play key roles in discussing pregnancy management options with patients, including abortion care and coordination. Since the 2022 overturn of Roe v. Wade, total or near-total abortion bans and frequent ban switching have occurred in many US states. A mixed methods approach (27 question survey assessing prenatal GCs' abortion referral/coordination practices before and after the overturn and semi-structured qualitative interviews exploring counseling adaptations, emotional well-being, and job satisfaction) was used to assess the effects of the overturn on prenatal GC practice. Survey responses from 35 prenatal GCs who have practiced for over 1 year were analyzed in four state categories that considered type and number of gestational age restriction changes after the overturn: Stable Restrictive (SR; N = 5), Newly Restrictive (NR; N = 5), Unstable (US; N = 8), and Stable Permissive (SP; N = 17). Paired t-tests compared “before” to “after” responses, and one-way ANOVA and Tukey tests compared differences between state categories. Results showed a statistically significant increase in reported distance to the nearest abortion clinic (p = 0.002) and reported wait times for abortion appointments (p < 0.001). Additionally, we found a statistically significant increase in prenatal GCs reporting that they often or always refer patients out of state for abortion care (p = 0.009). The reflexive thematic analysis framework was used for qualitative analysis. Through deductive and inductive analysis of follow-up interviews with 12 prenatal GCs from each state category (SR N = 2; NR N = 2; US N = 3; and SP N = 5), the researchers produced three cross-cutting themes: GCs altered practice due to legal uncertainty and changing policies, GCs built resource networks and self-educated, GCs experienced increased burden from their role in abortion coordination and care. These findings emphasize prenatal GCs' challenges in supporting their patients in all pregnancy management options and highlight the adaptations they have made to contend with abortion restrictions after the Roe v. Wade overturn.

Genetic counseling arose as a field in the late 1960s in the United States, with the creation of the first master's level degree. Since then, the profession has expanded globally, with several training degrees being established and genetic counselors integrated into national healthcare systems. In Portugal, though the profession is yet to be recognized, a master's degree in genetic counseling was established in 2009 at ICBAS (University of Porto). Fifteen years later, and with the everlasting progress in the genetics field, to investigate how to continue improving and advancing genetic counseling education in Portugal, a qualitative, exploratory study was designed. Fourteen supervisors from the second-year annual placement of the MSc degree were invited to participate in semi-structured interviews about their expectations and perceptions regarding the master's. Reflexive thematic analysis was used for the qualitative data gathered. Ten supervisors took part in this study, with 17 years as the average experience in the genetics field. Four key themes were constructed from the data. First, supervisors identified specific challenges in genetic counseling education, including limited infrastructure at host institutions-which restricts the type and depth of supervision that can be provided-and the need to adapt internship plans to students' diverse educational backgrounds. They also emphasized the importance of strengthening collaboration between educators and supervisors to ensure better alignment between academic preparation and practical training. The second theme centered on the experience of being a supervisor in the genetic counseling master's program. Supervisors' responses revealed diverse supervision styles and limited knowledge of the program's academic components. They also highlighted the students' motivating presence and the strong sense of purpose they felt when training new professionals. The third key theme concerned the integration of genetic counselors within genetic services. Supervisors acknowledged the added value genetic counselors bring to clinical settings, despite ongoing changes in service provision and limited career opportunities. The final theme related to misconceptions about the profession's scope of practice and training. This study provides insightful strategies to continue the development and improvement of the genetic counseling training in Portugal, and enhances the urgency of integrating these professionals into the healthcare system, with the ultimate purpose of promoting a more effective and comprehensive delivery of genetic counseling services in the country.

Lynch syndrome "carriers" carry a germline pathogenic variant conferring gene-, sex-, and organ-specific increased cancer risks. They are presented with difficult, interrelated choices over their lifetime. This study was part of a larger project to codesign a health intervention, Lynch Choices™ https://canchoose.org.uk to provide an information hub and decision support for carriers, their family members, and clinicians. This study aimed to answer the research question: What content, framing, and design elements of a decision aid for genetic cancer risk management are important to Lynch syndrome carriers? Adult carriers were invited to a think-aloud interview to hear their thoughts about a prototype version of Lynch Choices™ containing values-clarification exercises. The first half of interviews focused on the gynecological risk-reducing surgery and the second half on the aspirin decision aid. Twenty carriers (eight men) were interviewed, half of whom had a personal history of cancer. Iterative refinement of Lynch Choices™ content and design was completed between interviews using a transparent table of changes from the person-based approach. Following the interviews, reflexive thematic analysis was applied to the entire qualitative dataset. Three themes were constructed to guide further optimization and make recommendations for improved cancer risk communication in clinical practice. The three themes were: (1) Interpreting gene-specific cancer risks and "What does it mean to me?"; (2) Words matter: Careful phrasing is important to feel understood; (3) Decision aids: They can help but might trigger emotions. Think-aloud interviews provided in-depth insight into the psychosocial context of carriers. This informed optimization of the decision aid to support engagement and promote shared decision making with healthcare professionals. The learning from this study had broader implications beyond decision aid development, to understanding preferences, needs, and experiences regarding genetic cancer risk communication and decision support.

The 2022 Dobbs v. Jackson Women's Health Organization ruling, which returned abortion regulation to individual states, has created a fragmented and rapidly changing legal landscape in the United States. These legislative changes have profound implications for healthcare professionals, including genetic counselors (GCs), whose roles encompass providing comprehensive, client-centered reproductive counseling and facilitating access to abortion care. This study conducted a legislative scan of post-Dobbs abortion laws from 2023 to 2024 to assess how specific provisions intersect with the established genetic counseling practice competencies. Using a framework rooted in the genetic counseling scope of practice, state-level abortion laws were categorized into four domains: gestational age limits, fetal condition-specific laws, public funding or insurance coverage, and abortion care coordination. Legislative provisions were classified as restrictive, protective, or intermediate. A Restrictiveness Score (RS) and Protectiveness Score (PS) were calculated to quantify the impact of these laws on GCs' ability to deliver care. Of the 192 legislative provisions identified, 111 (58%) were classified as restrictive; overall, gestational age laws (n = 65, 34%) and insurance coverage/public funding provisions (n = 65, 34%) were the most prevalent. States with high RS values often overlapped with geographic areas of limited access to genetic counseling services. Furthermore, 18 states included “reason bans” targeting fetal conditions, including sex, anomalies, and genetic conditions, directly challenging GCs' ability to provide comprehensive counseling. This study underscores the need for ongoing monitoring of abortion legislation and proactive policy advocacy to protect reproductive health services and genetic counseling practice. By providing a detailed framework for legislative scans, this work offers a replicable model to track evolving legal landscapes and their implications for healthcare delivery.