Journal of Genetic Counseling最新文献

Mainstream genetic testing (MGT) refers to genetic testing conducted at the time of a cancer diagnosis without undergoing comprehensive genetic counseling. MGT has been the standard of care for patients with breast or ovarian cancer in Norway for several years. The aim of this study is to explore how newly diagnosed patients with breast or ovarian cancer and healthcare professionals' (HCPs), experience the use of the Rosa chatbot in mainstream genetic testing (MGT) and explore potential barriers to the implementation of chatbots in MGT. We conducted a qualitative study using semi-structured interview guides with selected patients and HCPs. The interviews were done either: in-person, over the digital platform Teams, or over the telephone, depending on the participants' wishes. We chose the Stepwise-Deductive Inductive approach for analyzing the transcripts. Both patients and HCPs viewed the Rosa chatbot positively, describing it as user-friendly, useful, accessible, safe, professional, and trustworthy. They reported that the volume and complexity of information during MGT could be overwhelming and viewed the chatbot as a trustworthy resource for patients to revisit at their own pace, supporting informed decision-making after a positive genetic test result. However, concerns were raised about potential misunderstandings, the impersonal nature of digital communication, and the risk of reduced patient–provider interaction, which together were perceived as an emotional barrier to integrating chatbots into genetic counseling practice.

Psychiatric disorders such as anxiety, bipolar disorder, depression, substance use disorder, and schizophrenia are highly heritable, yet access to genetic counseling for psychiatric disorders remains limited. Despite evidence supporting its benefits, systemic barriers in Australia limit access to this service. To address this gap, a genetic counselor was embedded within the Monash Mental Health Program -marking the first initiative of its kind in Australia. This initiative represents a novel, collaborative model that improves access to genetic services and fosters interdisciplinary partnerships between genetic counselors and mental health professionals. By embedding the service within a public health context, it also addresses critical equity issues in access to genomic healthcare. This paper outlines the structure, implementation, and function of the service, demonstrating its adaptability across a range of clinical areas. Initially focused on women of reproductive age with psychiatric histories, the service rapidly expanded to include dual disability, inpatient adult psychiatry, and child and adolescent mental health. It proved particularly valuable in high-risk perinatal cases, where psychiatric conditions intersected with fetal anomalies. Genetic counseling facilitated timely interventions, guided genetic testing where appropriate, and supported complex case management. By identifying key enablers and challenges, this paper offers practical insights for developing similar interdisciplinary services. It contributes unique evidence from the Australian context and provides a foundation for future research, policy, and service planning in psychiatric genetic counseling. This innovative, scalable model demonstrates how genetic counseling can be effectively integrated into mental health care, improving outcomes for individuals with psychiatric disorders and their families.

Genetic testing for hereditary cancer syndromes can provide lifesaving information allowing for individualized cancer screening, prevention, and treatment. A broader understanding of how psychosocial factors impact motivation to undergo genetic testing is needed to improve uptake among individuals who would benefit from testing. Adults (≥18 years) who met criteria for genetic testing based on a self-reported family cancer history and had not previously completed testing were invited to complete a survey (n = 799) assessing psychosocial factors including barriers to genetic testing, healthcare distrust, perceived self-efficacy, clinician autonomy support, and genetic testing knowledge. Associations between these psychosocial factors and testing motivation were examined first by correlation followed by multivariable linear regression. Self-efficacy had a significant positive correlation with genetic testing motivation, while barriers and healthcare distrust were negatively correlated with motivation. In an adjusted multivariable regression model, higher self-efficacy was associated with higher motivation while higher barriers and healthcare distrust were negatively associated with genetic testing motivation. Individuals of older age (51+), non-White race, and lower perceived socioeconomic status reported higher mean motivation scores. The negative association between distrust and barriers with genetic testing intention may be a potential target for tailored interventions for genetic testing.

Genetic testing for cancer predisposition and other actionable findings aims to improve health outcomes by informing patients and practitioners about genetic disease risks and guiding decisions on risk-reducing actions. This study explored patient-initiated lifestyle changes following genetic testing in a study population who predominantly screened positive on a hereditary risk assessment cancer tool prior to genetic testing, with a large proportion of individuals from marginalized groups with historically limited access to genetic services. A survey was administered to 761 study participants 6 months after result disclosure to capture initiation of lifestyle changes (diet, exercise, smoking cessation). Initiation of changes was assessed for association with patient-specific factors. Five hundred and fifty-six individuals completed surveys; 75% met criteria for belonging to a marginalized group. Among respondents, 20.5% reported at least one lifestyle change; primarily in diet (17.1%) and exercise (13.7%). Making a lifestyle change was associated with having a personal cancer history and higher perceived personal utility but not genetic finding, being a member of a marginalized group, or gender. Most participants with a personal cancer history did not receive a positive finding in a cancer risk gene, potentially motivating them to make lifestyle changes compared with participants without a personal cancer history.

Population-wide genomic screening for medically actionable conditions has the potential to expand opportunities for early intervention and personalized healthcare to a broader group of people than traditional indication-based testing. Current clinical practices and operations present many barriers to the implementation of genetic screening in primary care settings. This study aimed to assess the reach, implementation, and effectiveness of a Precision Health Pilot Initiative (PHPI) at a large urban healthcare system in Southeast Michigan. Patients aged 18 or older at six preselected primary care sites were invited through the electronic medical record (EMR). Participants were screened at no cost for medically actionable conditions using the Invitae Genetic Health Screen gene panel (147–167 genes) associated with hereditary cancer, cardiovascular disease, metabolic disorders, and other medically actionable conditions. The PHPI genetic counselors (GCs) uploaded the results into the EMR, informed the primary care providers (PCPs) of positive results, and disclosed results to all participants via telephone. Among the 13,814 individuals who were electronically invited to participate in the PHPI, 42.9% opened the MyChart invitation within 48 h and 6.1% consented to participate. Individuals who completed genetic screening were predominantly female (60.8%), White (77.7%), with an average age of 54.7 (±14.7 SD). Implementation improvements, including a shift from paper-based to electronic consent, significantly reduced the time from invitation to consent (from 47.9 to 14.5 days; p < 0.0001). Among 858 individuals who completed testing, 50.1% had clinically significant findings, with 18.6% of individuals having pathogenic/likely pathogenic (P/LP) variants indicating personal health risk, and 42.2% identified as carriers. The majority of findings indicating personal risk were in genes associated with thrombophilias and hereditary cancer syndromes. The PHPI demonstrated the potential of population-wide genomic screening to identify medically actionable conditions and advance preventive healthcare. However, challenges remain regarding equity, accessibility, and resource allocation. Further research and collaboration are needed to refine screening protocols and ensure equitable implementation.

Ashkenazi Jewish women are at significantly increased risk for hereditary breast and ovarian cancer (HBOC) due to the high prevalence of BRCA founder variants. Community-based organizations (CBOs) offer culturally tailored support through programs like peer support and genetic education, but limited research has explored how these services are offered and utilized in this population. Therefore, we conducted a secondary analysis of post-program survey data from N = 1054 women served by a national cancer support organization. Among high-risk Ashkenazi Jewish women (N = 429), we examined patterns of genetic education and peer support program offering and utilization, patient navigation (PN) quality, care satisfaction, and health-related quality of life (QoL). Among high-risk Ashkenazi Jewish women, 78% were offered peer support and 33% utilized it; 59% were offered genetic education and 17% utilized it. Notably, women with poorer QoL were significantly more likely to be offered (χ² = 8.06, p = 0.045) and utilize (t = −2.40, p = 0.009) peer support. Utilization of genetic education was more common among women with higher cancer risk (χ² = 5.94, p = 0.049). Both programs were viewed favorably among those who participated, with users reporting increased support and decision-making confidence. Women who were offered peer support reported significantly higher PN quality (t = 3.7, p < 0.001) and greater satisfaction with CBO care (t = 3.09, p = 0.001) than those not offered the service. Similarly, women offered genetic education reported significantly higher PN quality (t = 3.99, p < 0.001) and CBO care satisfaction (t = 5.38, p < 0.001) compared to those not offered the service. However, dual utilization of both programs was uncommon: among women offered both (N = 217) services, only 27% used both, suggesting potential barriers to concurrent engagement. CBO-led peer support and genetic education may improve care satisfaction and psychosocial outcomes for Ashkenazi Jewish women navigating HBOC. Future efforts should explore integrated models that reduce barriers to dual participation and enhance continuity of care across services.

This research aimed to describe professional identity (PI) and professional identity formation (PIF) of early-career genetic counselors (GCs) attending a professional conference. PI is a sense of self within a professional community and includes interpersonal and intrapersonal characteristics that reflect shared values of the field. PI can be learned through modeling in settings like conferences where professionals assemble and are engaged in continuing education (CE). Using a particularistic case study methodology and a social learning theory frame, this study explored how PI is modeled and the experiences that contribute to feelings of belonging in the profession. Participants were newly certified GCs who attended the 2022 National Society of Genetic Counselors Annual Conference. Sixteen participants completed a reflective writing prompt and two semi-structured interviews. Inductive open coding and refinement of codes resulted in four primary collective themes. (1) Awareness of PI and PIF: All participants described elements of the collective identity of GCs, though most were unaware of the term “professional identity.” (2) Modeling of PI and PIF: Elements of identity were modeled in CE sessions and social settings. Participants noted concordance and discordance with other GCs, including perceived discrepancies between early-career and experienced GCs on the value of diversity and inclusivity. (3) Conference experience: In-person and virtual conference formats differed in community-building, inclusion, accessibility, and socialization. (4) Factors/experiences influencing belonging: Sense of community, CE session content, affirmation from others, and personal identity or characteristics like appearance impacted feelings of belonging. Findings indicate early-career GCs have emerging awareness of PI, suggesting opportunities to integrate strategies that promote PIF and strengthen PI, including equitable social opportunities for in-person and virtual attendees. Early-career GCs described how others influence feelings of belonging, highlighting a role for all GCs in supporting PIF.

The availability of assisted reproductive technologies has enabled the lesbian, gay, bisexual, transgender, queer, and other marginalized sexual orientations and gender identities (LGBTQ+) community to pursue reproductive healthcare services for family planning, including genetic testing and counseling. However, this group often encounters obstacles to equitable reproductive care related to discrimination, and genetic counselors (GCs) often feel underprepared to support LGBTQ+ clients. Limited literature exists on the interactions between reproductive GCs and LGBTQ+ clients, indicating a need for better understanding of how GCs can provide effective care to LGBTQ+ individuals seeking reproductive services. Using a semi-structured interview guide, we conducted in-depth interviews with 17 GCs practicing in preconception and/or prenatal genetics to examine their experiences and practices of LGBTQ+ inclusivity. Interviews were transcribed, coded, and thematically analyzed to identify broader patterns. Four thematic categories were produced in the reflexive thematic coding process: (1) obstacles for LGBTQ+ clients in navigating reproductive genetics; (2) challenges and opportunities experienced by GCs regarding LGBTQ+ inclusivity; (3) counseling strategies used by GCs to provide LGBTQ-inclusive care, as well as challenges and motivations in incorporating such strategies; and (4) the importance of LGBTQ+ topics in graduate training and continuing education in shaping GC practices of LGBTQ+ inclusivity. The results illustrate that although GCs recognize the impact of anti-LGBTQ+ discrimination on their clients and counseling, they and other providers often experience difficulties or reluctance with implementing LGBTQ-inclusive practices. Additionally, while participants described using various LGBTQ-inclusive counseling strategies, inconsistency and insufficient training in such practices suggest there is a need for meaningful continuing education on LGBTQ+ topics. These findings underscore the value of broad applications of LGBTQ-inclusive counseling in reproductive genetics, as well as the importance of continuing education to promote LGBTQ+ inclusivity and strengthen inclusive counseling skills.

Individuals with increased familial or genetic risk of pancreatic cancer (PC) may be recommended to undergo regular PC surveillance. Genetic counselors are often involved in discussions about PC surveillance for high-risk individuals (HRIs); however, barriers to HRIs' participation in PC surveillance are not well characterized. This study aimed to identify reasons that HRIs cease, defer, or do not commence recommended PC surveillance through telephone interviews. Participants either had prior annual PC surveillance with no surveillance completion in ≥2 years, had a ≥2-year period without surveillance completion, or had not completed an initial surveillance imaging study 3 months after it was ordered. Fifty telephone interviews were analyzed using directed content analysis. Twenty interviewees had familial PC (34.5%) and 38 (65.5%) had a pathogenic variant associated with increased PC risk, with BRCA2 being the most common (N = 15, 25.9%). Interviewees were 74.1% women and 93.1% White with a median age of 63.0 years. Logistical barriers (N = 11, 34.4%), different healthcare professional recommendations (N = 9, 28.1%), other health issues (N = 8, 25.0%), and difficulty recalling surveillance recommendations (N = 8, 25.0%) were the top reasons for ceasing or deferring PC surveillance. Difficulty recalling surveillance recommendations (N = 5, 27.8%), cost (N = 4, 22.2%), and invasiveness of procedures (N = 4, 22.2%) were the top reasons for not commencing PC surveillance. Other reasons included the COVID-19 pandemic, moving from the service delivery area, cost, concerns about imaging studies, nonmedical life events, and fear. Several barriers identified in this study were consistent with barriers faced in screening for other more common cancers. These results demonstrate the need for targeted strategies to reduce PC surveillance barriers for HRIs. Furthermore, given that HRIs face multiple barriers to PC surveillance, it is important that cancer genetics professionals familiarize themselves with these barriers to reduce their impact and to facilitate recommended PC surveillance among HRIs.

Research on motivators and barriers to genetic testing among patients with cancer has yet to evaluate the impact of targeted treatments. This study examined the perspectives of patients and healthcare providers (HCPs) on patient decision-making around genetic testing, specifically gBRCA (germline BReast CAncer gene) testing, in early-stage breast cancer (eBC). Semi-structured telephone interviews were performed in the United States with female patients diagnosed with eBC (n = 7 tested and 5 untested) in 2017 or later, and HCPs treating eBC patients, including medical oncologists (n = 12) and genetic counselors (GCs) (n = 8). Patients and HCPs were recruited via panel databases between January and February 2023. Patients, oncologists, and genetic counselors were asked about influences on BRCA testing and the selection of adjuvant genetically targeted treatment for patients with BRCA. Data were analyzed using deductive and inductive approaches using content analysis. Patients and HCPs saw having complete information about their breast cancer and treatment options as driving patients' choice to undergo genetic testing. Patients and oncologists also recognized the influence of physician recommendations to test and the importance of patients being able to share testing results with family. Reluctance to test was linked to perceived lack of benefit for the patient's family, fear of losing insurance coverage, and increasing patient worries. HCPs indicated that testing is further impeded by patients' distrust of the medical community and the limited availability of genetic counselors. Patients were interested in treatments with high efficacy that would lower the chance of cancer recurrence, including targeted therapies. In choosing both testing and treatment, patients value information that can empower them to achieve their goals of normalcy and remission. Oncologists and GCs can respect patients' values and goals by engaging them in the decisions for testing and treatment.