Journal of Genetic Counseling最新文献

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Psychosocial predictors of hereditary cancer genetic testing motivation in untested individuals 未检测个体中遗传性癌症基因检测动机的社会心理预测因素。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-15 DOI: 10.1002/jgc4.70122
Sarah Austin, Emerson Delacroix, John D. Rice, Erika Koeppe, Elena M. Stoffel, Jennifer J. Griggs, Kenneth Resnicow
{"title":"Psychosocial predictors of hereditary cancer genetic testing motivation in untested individuals","authors":"Sarah Austin,&nbsp;Emerson Delacroix,&nbsp;John D. Rice,&nbsp;Erika Koeppe,&nbsp;Elena M. Stoffel,&nbsp;Jennifer J. Griggs,&nbsp;Kenneth Resnicow","doi":"10.1002/jgc4.70122","DOIUrl":"10.1002/jgc4.70122","url":null,"abstract":"<p>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 (<i>n</i> = 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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12528973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patient-initiated lifestyle changes following receipt of genetic test results in a predominantly marginalized population 在主要处于边缘地位的人群中,接受基因检测结果后患者发起的生活方式改变。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-15 DOI: 10.1002/jgc4.70112
Marian J. Gilmore, Hannah E. Frawley, Elizabeth Shuster, Joanna E. Bulkley, Kristin R. Muessig, Benjamin S. Wilfond, Michael C. Leo, Jessica Ezzell Hunter
{"title":"Patient-initiated lifestyle changes following receipt of genetic test results in a predominantly marginalized population","authors":"Marian J. Gilmore,&nbsp;Hannah E. Frawley,&nbsp;Elizabeth Shuster,&nbsp;Joanna E. Bulkley,&nbsp;Kristin R. Muessig,&nbsp;Benjamin S. Wilfond,&nbsp;Michael C. Leo,&nbsp;Jessica Ezzell Hunter","doi":"10.1002/jgc4.70112","DOIUrl":"10.1002/jgc4.70112","url":null,"abstract":"<p>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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304381","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Implementing genetic screening into primary care for medically actionable conditions: Insights from a precision health pilot program 在初级保健中实施基因筛查,用于医学上可操作的条件:来自精确健康试点计划的见解。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-12 DOI: 10.1002/jgc4.70118
Maggie A. Bowler, Julie Zenger Hain, Lauren N. Jackson, Katelyn N. Roberts, Stephen A. Williams, Ramin Homayouni
{"title":"Implementing genetic screening into primary care for medically actionable conditions: Insights from a precision health pilot program","authors":"Maggie A. Bowler,&nbsp;Julie Zenger Hain,&nbsp;Lauren N. Jackson,&nbsp;Katelyn N. Roberts,&nbsp;Stephen A. Williams,&nbsp;Ramin Homayouni","doi":"10.1002/jgc4.70118","DOIUrl":"10.1002/jgc4.70118","url":null,"abstract":"<p>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; <i>p</i> &lt; 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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic education and peer support among Ashkenazi Jewish women in the United States at risk for and surviving with breast cancer 美国德系犹太妇女乳腺癌风险和存活风险的遗传教育和同伴支持。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-12 DOI: 10.1002/jgc4.70121
Talia Zamir, Muriel R. Statman, Marcelo M. Sleiman Jr., Duye Liu, Adina Fleischmann, Elana Silber, Kenneth P. Tercyak
{"title":"Genetic education and peer support among Ashkenazi Jewish women in the United States at risk for and surviving with breast cancer","authors":"Talia Zamir,&nbsp;Muriel R. Statman,&nbsp;Marcelo M. Sleiman Jr.,&nbsp;Duye Liu,&nbsp;Adina Fleischmann,&nbsp;Elana Silber,&nbsp;Kenneth P. Tercyak","doi":"10.1002/jgc4.70121","DOIUrl":"10.1002/jgc4.70121","url":null,"abstract":"<p>Ashkenazi Jewish women are at significantly increased risk for hereditary breast and ovarian cancer (HBOC) due to the high prevalence of <i>BRCA</i> 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 <i>N</i> = 1054 women served by a national cancer support organization. Among high-risk Ashkenazi Jewish women (<i>N</i> = 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 (χ<sup>2</sup> = 8.06, <i>p</i> = 0.045) and utilize (<i>t</i> = −2.40, <i>p</i> = 0.009) peer support. Utilization of genetic education was more common among women with higher cancer risk (χ<sup>2</sup> = 5.94, <i>p</i> = 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 (<i>t</i> = 3.7, <i>p</i> &lt; 0.001) and greater satisfaction with CBO care (<i>t</i> = 3.09, <i>p</i> = 0.001) than those not offered the service. Similarly, women offered genetic education reported significantly higher PN quality (<i>t</i> = 3.99, <i>p</i> &lt; 0.001) and CBO care satisfaction (<i>t</i> = 5.38, <i>p</i> &lt; 0.001) compared to those not offered the service. However, dual utilization of both programs was uncommon: among women offered both (<i>N</i> = 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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12516022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281932","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Early-career genetic counselors' professional identity formation through experiences with continuing education at a professional conference 早期职业遗传咨询师在专业会议上继续教育的职业认同形成。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-12 DOI: 10.1002/jgc4.70120
Rachel Mills, Susan J. Barcinas
{"title":"Early-career genetic counselors' professional identity formation through experiences with continuing education at a professional conference","authors":"Rachel Mills,&nbsp;Susan J. Barcinas","doi":"10.1002/jgc4.70120","DOIUrl":"10.1002/jgc4.70120","url":null,"abstract":"<p>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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12516107/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Inclusive genetic counseling for LGBTQ+ clients: A qualitative study of reproductive genetic counselors' experiences and perspectives LGBTQ+客户的包容性遗传咨询:生殖遗传咨询师的经验和观点的定性研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-09 DOI: 10.1002/jgc4.70111
Claudia Borodziuk, Julia Wynn, Nina Harkavy, Amanda L. Bergner, Michelle E. Florido
{"title":"Inclusive genetic counseling for LGBTQ+ clients: A qualitative study of reproductive genetic counselors' experiences and perspectives","authors":"Claudia Borodziuk,&nbsp;Julia Wynn,&nbsp;Nina Harkavy,&nbsp;Amanda L. Bergner,&nbsp;Michelle E. Florido","doi":"10.1002/jgc4.70111","DOIUrl":"10.1002/jgc4.70111","url":null,"abstract":"<p>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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of barriers to pancreatic cancer surveillance in high-risk individuals 高危人群胰腺癌监测障碍的评估。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-09 DOI: 10.1002/jgc4.70117
Grace G. Snyder, Daniel Clay, Sara Karley, Samantha Pipito, Rebecca Mueller, Angela Bradbury, Kara Maxwell, Katherine L. Nathanson, Mersedeh Rohanizadegan, Payal Shah, Susan M. Domchek, Jessica M. Long, Bryson W. Katona
{"title":"Assessment of barriers to pancreatic cancer surveillance in high-risk individuals","authors":"Grace G. Snyder,&nbsp;Daniel Clay,&nbsp;Sara Karley,&nbsp;Samantha Pipito,&nbsp;Rebecca Mueller,&nbsp;Angela Bradbury,&nbsp;Kara Maxwell,&nbsp;Katherine L. Nathanson,&nbsp;Mersedeh Rohanizadegan,&nbsp;Payal Shah,&nbsp;Susan M. Domchek,&nbsp;Jessica M. Long,&nbsp;Bryson W. Katona","doi":"10.1002/jgc4.70117","DOIUrl":"10.1002/jgc4.70117","url":null,"abstract":"<p>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 <i>BRCA2</i> being the most common (<i>N</i> = 15, 25.9%). Interviewees were 74.1% women and 93.1% White with a median age of 63.0 years. Logistical barriers (<i>N</i> = 11, 34.4%), different healthcare professional recommendations (<i>N</i> = 9, 28.1%), other health issues (<i>N</i> = 8, 25.0%), and difficulty recalling surveillance recommendations (<i>N</i> = 8, 25.0%) were the top reasons for ceasing or deferring PC surveillance. Difficulty recalling surveillance recommendations (<i>N</i> = 5, 27.8%), cost (<i>N</i> = 4, 22.2%), and invasiveness of procedures (<i>N</i> = 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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70117","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145260269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bringing Genetics to Mental Health: Integrating Genetic Counseling into a Mental Health Program at Monash Health, Australia. 将遗传学带入心理健康:将遗传咨询纳入澳大利亚莫纳什健康中心的心理健康项目。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-10-01 DOI: 10.1002/jgc4.70123
Joanne Isbister, Anita Gorrie, Lia Laios, Joshua Schultz, Megan Galbally
{"title":"Bringing Genetics to Mental Health: Integrating Genetic Counseling into a Mental Health Program at Monash Health, Australia.","authors":"Joanne Isbister, Anita Gorrie, Lia Laios, Joshua Schultz, Megan Galbally","doi":"10.1002/jgc4.70123","DOIUrl":"https://doi.org/10.1002/jgc4.70123","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":"e70123"},"PeriodicalIF":1.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145338174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Perceptions of patients and healthcare providers on BRCA testing in early-stage breast cancer: Qualitative research findings 患者和医疗保健提供者对早期乳腺癌BRCA检测的看法:定性研究结果
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-09-26 DOI: 10.1002/jgc4.70108
Jagadeswara Rao Earla, Emily Mulvihill, Josh Lankin, Lauren Howell, Alexandra Kissling, Jaime Mejia, Xiaoqing Xu, Kathryn Mishkin
{"title":"Perceptions of patients and healthcare providers on BRCA testing in early-stage breast cancer: Qualitative research findings","authors":"Jagadeswara Rao Earla,&nbsp;Emily Mulvihill,&nbsp;Josh Lankin,&nbsp;Lauren Howell,&nbsp;Alexandra Kissling,&nbsp;Jaime Mejia,&nbsp;Xiaoqing Xu,&nbsp;Kathryn Mishkin","doi":"10.1002/jgc4.70108","DOIUrl":"https://doi.org/10.1002/jgc4.70108","url":null,"abstract":"<p>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 <i>gBRCA</i> (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 (<i>n</i> = 7 tested and 5 untested) in 2017 or later, and HCPs treating eBC patients, including medical oncologists (<i>n</i> = 12) and genetic counselors (GCs) (<i>n</i> = 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.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145146795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NSGC 2025 incoming presidential address 2025年即将上任的总统演讲
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-09-26 DOI: 10.1002/jgc4.70115
Sara Pirzadeh-Miller
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