Journal of Genetic Counseling最新文献

{"title":"Interpreter style in translating complex terminology and psychosocial aspects of genetic counseling sessions","authors":"Cecilia Bouska,&nbsp;Kaitlin Kerr,&nbsp;Cassie S. Mintz","doi":"10.1002/jgc4.70021","DOIUrl":"https://doi.org/10.1002/jgc4.70021","url":null,"abstract":"<p>Two styles of interpretation exist: word-for-word and sense-for-sense, and there is no consensus on which style is preferred or how this may affect communication in genetic counseling sessions between the healthcare provider and the interpreter. This exploratory study investigated different interpreter approaches and styles used when encountering genetic counseling sessions to further characterize communication nuances between genetic counselors and interpreters. A 34-question survey assessed interpreters' style of interpretation, understanding of genetic counseling, and approach to translation. Overall, there were 29 respondents from three different interpreter organizations. Thirteen respondents indicated that they typically interpret in a word-for-word approach, whereas 13 utilize sense-for-sense. Participants reported knowledge of five commonly used genetics terms (89%), although fewer noted that all these terms were easy to translate (65%). Respondents' reactions to statements about genetic counseling, measured on a 5-point Likert scale, indicated an overall high understanding of aspects of a genetic counselor's role; however, many indicated a belief that genetic counselors require testing (25%, <i>n</i> = 7). This research better outlines the interpreter perspective in genetic counseling sessions and points to a potential opportunity for improving the working relationship by implementing additional training experiences for genetic counseling sessions or conducting a brief presession discussion.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70021","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896973","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}

{"title":"Patient care practices for LGBTQ+ individuals in clinical genetics: A scoping review","authors":"Kimberly Zayhowski,&nbsp;Kayla Horowitz,&nbsp;Molly Bostrom,&nbsp;Kathleen F. Mittendorf,&nbsp;Megan Kocher,&nbsp;Jehannine (J9) Austin,&nbsp;Ian M. MacFarlane","doi":"10.1002/jgc4.70022","DOIUrl":"https://doi.org/10.1002/jgc4.70022","url":null,"abstract":"<p>Individuals who are LGBTQ+ (Lesbian, Gay, Bisexual, Transgender, Queer/Questioning, and/or have a sexual orientations and/or gender identity beyond cisheteronormative conceptions) face systemic barriers to healthcare, leading to significant health inequities. To address these challenges, genetic providers must better understand and inclusively address LGBTQ+ patient needs. This scoping review aims to map the current landscape of genetic care practices and their inclusivity toward LGBTQ+ individuals. We conducted a systematic search of databases, including Ovid MEDLINE, PsycINFO, and Web of Science, identifying 65 relevant articles focused on LGBTQ+ patient experiences and care practices within genetic healthcare services. Our thematic analysis of the articles highlights three major themes: exclusionary clinical environments and tools, provider biases and educational needs, and patient-reported barriers in accessing genetic services. Many articles underscored the importance of inclusive language and criticized the conflation of sex, sex chromosomes, and gender. A significant focus was on cancer care for transgender and gender-diverse individuals, revealing a need for more data on the effects of gender-affirming care on cancer risk assessment. Moreover, genetic counselors often report insufficient training in LGBTQ+ health needs, contributing to biases and knowledge gaps. Despite increased awareness among providers of the need for inclusive care, LGBTQ+ patients encounter substantial barriers, including medical distrust and limited family health history, which may deter them from disclosing their identities due to the risk of discrimination. This review calls for standardized data collection practices regarding sex-related variables, gender modality, and sexual orientation, alongside specialized training programs for providers. By emphasizing critical areas for research, policy changes, and education, we aim to promote equitable, patient-centered genetic services for LGBTQ+ communities.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70022","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896976","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}

{"title":"Understanding facilitators and barriers to genetic testing for black ovarian cancer patients: A qualitative study utilizing interview data with patients and providers","authors":"Chelsea Salyer,&nbsp;Erika Gazetta,&nbsp;Cassandra Voth,&nbsp;Lori Spoozak,&nbsp;Jason Glenn,&nbsp;Jennifer Klemp,&nbsp;Lauren Nye,&nbsp;Andrea Jewell,&nbsp;Megha Ramaswamy","doi":"10.1002/jgc4.70007","DOIUrl":"https://doi.org/10.1002/jgc4.70007","url":null,"abstract":"<p>Studies consistently demonstrate that Black ovarian cancer patients are less likely to receive guideline-recommended genetic testing. The current study explored barriers to genetic testing among Black women from the perspective of key stakeholders. We conducted semi-structured interviews with patients (<i>n</i> = 5), advanced practice providers (<i>n</i> = 4), genetic counselors (<i>n</i> = 5), and physicians (<i>n</i> = 6). A framework analysis was used to identify themes. All patients identified as Black and completed genetic testing. Among providers, 13% identified as Black and the majority (66%) focused on gynecologic cancer care. Four themes emerged, and the first was that participants felt all women are too overwhelmed by their cancer diagnosis to prioritize genetic testing. However, Black women experience additional stress from racism that adds an additional barrier to genetic services. Second, Black women are unable to access genetic testing due to socioeconomic disadvantages related to a long history of structural racism. Third, Black women may be unwilling to complete genetic testing due to mistrust of providers and the healthcare system. Finally, Black women are less likely to receive genetic services prior to their cancer diagnosis due to cultural barriers and provider misconceptions about Black women's hereditary risk. Our findings highlight barriers to genetic counseling and testing among Black women, which may include individual and structural racism as well as bias. To increase uptake of genetic testing, it is critical for providers to prioritize communication and patient education that is culturally responsive to the needs of Black women and offer social supports to help Black women navigate their cancer care.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70007","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896956","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}

{"title":"Gender-affirming chest surgery decisions in response to hypothetical BRCA1/2 genetic testing","authors":"Taylor I. Gray,&nbsp;Joshua D. Safer,&nbsp;Leah Zaretsky","doi":"10.1002/jgc4.70003","DOIUrl":"https://doi.org/10.1002/jgc4.70003","url":null,"abstract":"<p>To align their bodies with gender identity, transgender and gender-diverse individuals may elect to undergo gender-affirming chest masculinization or feminization, which is different from the standard mastectomy recommended to those with <i>BRCA1/2</i> pathogenic variants. This study aimed to determine if genetic testing revealing a pathogenic variant associated with a significantly higher lifetime risk of breast cancer would influence decisions regarding chest surgery type. The investigators hypothesized that <i>BRCA1/2</i> pathogenic variant carrier status would influence gender-diverse individuals to elect a more invasive surgery to address increased cancer risk. Of 26 transgender and gender-diverse individuals without a history of chest surgery, 23.1% stated they would likely elect a more invasive surgery type based on positive genetic testing results while, of 17 individuals with a previous history of chest reconstruction, 52.9% stated it was unlikely that genetic testing would have altered their surgical decision-making. These results suggest that health care providers should counsel transgender patients about the utility of genetic testing prior to gender-affirming chest reconstruction.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896971","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}

{"title":"Identifying potential genetic counseling program applicant competencies","authors":"Alexis Gallant,&nbsp;Erin Carmany,&nbsp;Angela Trepanier","doi":"10.1002/jgc4.70020","DOIUrl":"https://doi.org/10.1002/jgc4.70020","url":null,"abstract":"<p>Genetic counseling (GC) program admission is highly competitive. Developing applicant competencies, like the Association of American Medical Colleges (AAMC) has done, could help genetic counseling applicants better identify the knowledge, skills, and personal qualities programs seek. The purpose of this qualitative focus group study was to develop a set of draft GC program applicant competencies and then compare them with those established by the AAMC. We developed a semi-structured interview guide that included questions about GC application requirements, the reason for each requirement, and how important each was in evaluating an applicant. These were followed by questions that asked to what extent the medical school applicant competencies aligned with what GC programs were looking for in applicants, and overall thoughts about developing applicant competencies. Focus group participants, which could include program leadership and admissions committee members, were recruited through the Association of Genetic Counseling Program Directors' listserv. Four virtual focus groups were held between December 2020 and February 2021. Fifteen people participated, representing 13 of 50 programs. One investigator conducted the focus group session while the other two investigators took notes. Each focus group session was recorded and then transcribed verbatim. The transcripts and notes were reviewed by each investigator independently to generate themes (applicant competencies) using reflexive thematic analysis. Draft themes were reviewed, discussed, and refined, using two rounds of an iterative process. The draft set of competencies was then sent to focus group participants for review. Comments were submitted by six participants representing all four focus groups and were incorporated. Thirteen competencies, reflective of the baseline knowledge, skills, and personal qualities sought in genetic counseling applicants, were identified: Foundation in Basic Science and Genetics, Insight into the Profession, Academic Ability, Capacity for Self-Awareness, Interpersonal Skills, Communication Skills, Critical Thinking and Reasoning, Teamwork, Cultural Humility, Professional Attributes, Capacity to Value and Support Diverse Perspectives, Capacity for Growth, and Commitment to Helping Others. These competencies significantly overlap with medical school applicant competencies but also reflect unique aspects of the GC profession. Additional research to evaluate this set of competencies and the pros and cons of using them in GC admissions is needed. We believe that this work serves as a starting place to promote transparency in GC admissions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70020","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896975","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}

{"title":"Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants","authors":"Vivienne Souter,&nbsp;Lisa Johnson,&nbsp;Emily Becraft,&nbsp;Ashley Cantu-Weinstein,&nbsp;Hossein Tabriziani,&nbsp;Peter Benn,&nbsp;Clifford E. Kashtan","doi":"10.1002/jgc4.70045","DOIUrl":"https://doi.org/10.1002/jgc4.70045","url":null,"abstract":"<p>Reproductive carrier screening aims to identify individuals at an increased chance of having children affected by genetic conditions. However, testing can also reveal health implications for autosomal or X-chromosome heterozygotes. One such example is screening for Alport syndrome (<i>COL4A3-5</i>-related disease) which is one of the most common causes of inherited chronic kidney disease. Alport syndrome heterozygotes have an increased chance for chronic kidney disease. Monitoring and providing early treatment can slow kidney disease progression and delay the onset of kidney failure. We provide information on Alport syndrome and propose a simple management algorithm for individuals found on carrier screening to have a pathogenic or likely pathogenic variant in one or more of the Alport syndrome genes. We emphasize the importance of genetic counseling, partner screening, and cascade testing to identify at-risk family members, including existing children. Clinical management includes baseline evaluation for kidney disease, nephrology referral when needed, enhanced pregnancy surveillance for proteinuria and hypertension, and long-term follow-up. The proposed management plan serves as an example for other conditions where screening identifies heterozygotes with a variable chance for disease in the individual tested.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70045","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896972","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}

{"title":"Exploring genetic counselors' perspectives on family group appointments for genetic testing","authors":"Kelvin Chang,&nbsp;Courtney B. Cook,&nbsp;Zoe Lohn,&nbsp;Angela C. Bedard","doi":"10.1002/jgc4.70041","DOIUrl":"https://doi.org/10.1002/jgc4.70041","url":null,"abstract":"<p>Increasing demand for genetics services has highlighted a need for more efficient genetic counseling service delivery models. Family group appointments (FGAs) may be a time-efficient approach to facilitate cascade genetic testing. This study aimed to explore genetic counselors' (GCs) perspectives on genetic counseling in a family group setting to inform effective practices for this service delivery method. Semi-structured interviews were conducted with GCs practicing in North America who have conducted FGAs for cascade genetic testing. Participants completed a survey about demographic information and FGA experience. A subset of survey respondents was invited to complete an interview. Interview transcripts were coded using an interpretive description approach. 138 GCs completed the survey and 13 participated in interviews. Genetic counselors reported that the benefits of FGAs include family member support, group discussion, efficiency, effects on cascade testing uptake, and job satisfaction. Key considerations included various logistical factors, respecting individual preferences about genetic testing, maintaining privacy, and existing family dynamics. Participants discussed how FGAs condense information and open appointment slots for other patients in their clinic. Logistical considerations identified were related to scheduling and attendance, such as GCs holding licensure in every state that patients are located in during the appointment, aligning multiple patient schedules, and flexibility with different appointment modalities. Benefits identified in our study highlight potential reasons that GCs and patients may consider FGAs as a preferred service delivery model for certain appointments. The considerations described in our study can help guide GCs arranging, conducting, and following up with a FGA. Our results also detail the importance of relational autonomy in medical decision-making, which is emphasized in FGAs and should be considered by genetics service providers accordingly.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70041","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143893029","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}

{"title":"Patient understanding of fetal sex versus gender in the context of routine cell-free DNA screening","authors":"Mindy Kolodziejski,&nbsp;Natalie Stoner,&nbsp;Kathryn Leal,&nbsp;Samantha Montgomery,&nbsp;Ted Tabor,&nbsp;Alvaro Montealegre,&nbsp;Shannon Mulligan","doi":"10.1002/jgc4.70018","DOIUrl":"https://doi.org/10.1002/jgc4.70018","url":null,"abstract":"<p>Noninvasive prenatal testing (NIPT) is the current standard of care to screen for fetal aneuploidy using cell-free DNA. NIPT screens for sex chromosome aneuploidies and, in doing so, can predict fetal chromosomal sex. Despite sex and gender being distinct concepts, many patients refer to NIPT as the “gender test” and use NIPT to find out predicted fetal sex and assume gender. Our study aimed to evaluate and describe patient understanding of sex and gender in the context of receiving routine prenatal genetics education (PGE) on NIPT. A survey was developed in REDCap with the goal of assessing patient understanding of sex versus gender and factors that may influence their understanding. University of Texas Physicians patients in the Greater Houston area who received PGE were prospectively recruited from August to December 2023 (<i>N</i> = 375) to participate in this study. Statistical analysis found that, despite a majority (92.0%) of participants receiving PGE that was known to use “sex” exclusively in its written terminology, over half (51.0%) reported that their PGE used “gender.” Participants were more likely to report that their PGE used “gender” if they also reported using “gender” to reference their own pregnancy (<i>p</i> &lt; 0.001). While a majority (76.0%) of participants correctly answered less than 50% of questions aimed to assess understanding of gender, those who were younger (<i>p</i> = 0.001) and those with a higher level of education (<i>p</i> &lt; 0.001) answered more questions correctly. Younger and more educated participants were also more likely to report that they correctly use “sex” to reference their pregnancy as opposed to “gender” (<i>p</i> = 0.018 and <i>p</i> &lt; 0.001, respectively). Ultimately, this study identified that there is a gap in patient understanding of sex versus gender that could potentially be mediated by improved prenatal genetics education.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70018","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892734","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}

{"title":"Pediatric genetic counselor use and perception of various clinic models","authors":"Emily Franciskato,&nbsp;Elly Brokamp,&nbsp;Elizabeth Jasper,&nbsp;Christine Munroe,&nbsp;Jacquelyn Britton,&nbsp;Laura Duncan","doi":"10.1002/jgc4.70028","DOIUrl":"https://doi.org/10.1002/jgc4.70028","url":null,"abstract":"<p>Pediatric genetic counseling consistently has the longest referral to appointment time among all genetic counseling specialties. Pediatric genetic counselors (GCs) are utilizing non-traditional clinic models (NTM) in their practices. This study identified the clinic models utilized by GCs and describes GCs' perceptions regarding clinic model use and implementation. Pediatric GCs were recruited via the National Society of Genetic Counselors student research email. Descriptive statistics were used to describe respondent demographics, clinic model types utilized, average monthly patient volume, and genetic counselor perceptions of their clinic model, including barriers, helpful resources, and perceived improvements with NTM implementation. Of the 78 respondents, 80.8% of pediatric GCs were working in a NTM role at least some of the time. The average monthly patient volume was higher for GCs exclusively in NTM and combination clinic roles versus GCs solely in traditional model (TM) roles. The genetic counseling-only clinic was the NTM utilized most among NTM and combination GCs. A higher proportion of GCs working with NTMs agreed they were satisfied with their job, felt supported in the clinic, were at the top of their scope, and provided better patient care than TM GCs. Barriers exist to NTM implementation, and the process was not standardized across clinics. This study provides preliminary evidence showing NTM use can increase pediatric GC patient volume while increasing job satisfaction.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70028","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892811","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}

{"title":"A qualitative approach to life with neurofibromatosis type 1 based on Mishel's Uncertainty in Illness Theory: “My body is a ticking time bomb”","authors":"Roberta Teixeira de Moraes,&nbsp;Natália Parenti Bicudo,&nbsp;Carla Maria Ramos Germano,&nbsp;Lucimar Retto da Silva de Avó,&nbsp;Débora Gusmão Melo","doi":"10.1002/jgc4.70006","DOIUrl":"https://doi.org/10.1002/jgc4.70006","url":null,"abstract":"<p>Neurofibromatosis type 1 (NF1) is a genetic disease that follows an autosomal dominant inheritance pattern, characterized by significant phenotypic variability and unpredictable clinical progression. Affected individuals can present from mild cosmetic involvement with café-au-lait macules to benign and malignant neoplasms, among other comorbidities that can diminish well-being or pose a threat to it. The transmission risk is 50%, and it is impossible to predict the extent of manifestations in the offspring. This qualitative study explored emotional and psychological meanings attributed by individuals with NF1 to their experience, based on Mishel's Uncertainty in Illness Theory. Thirty-eight Brazilian adults with NF1 responded to a self-reported online questionnaire. In it, sociodemographic information was collected, an NF1 visibility assessment scale and the Brazilian version of the NF1 Impact on Quality of Life (INF1-QoL) questionnaire were administered. Finally, three open-ended questions were asked about the impact of the disease on individuals' lives: the first regarding the influence of NF1 on the participant's life in general, the second about NF1 in different life stages, and the third about their experience of health monitoring. Qualitative content analysis was used to investigate the corpus. Fifteen main categories were identified, which align with Mishel's theory and contribute to comprehending uncertainty in NF1, manifested primarily regarding the disease progression in the individual, reproductive planning, and distress about the future of already affected children. This deeper understanding of the NF1 experience and associated uncertainty can enhance the cultural competence of genetic counselors and contribute to more effective clinical approaches and interventions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892943","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}