Journal of Genetic Counseling最新文献

{"title":"Preventing fraudulent research participation: Methodological strategies and ethical impacts","authors":"Cassie Mayer,&nbsp;Rebecca Tryon,&nbsp;Sarah Ricks,&nbsp;Kara Lane,&nbsp;Emma Van Hook,&nbsp;Kimberly Zayhowski","doi":"10.1002/jgc4.70048","DOIUrl":"https://doi.org/10.1002/jgc4.70048","url":null,"abstract":"<p>This article addresses a growing issue in genetic counseling research: the participation of individuals who falsify demographic information or experiences to qualify for studies, often motivated by remuneration. This issue is particularly pressing in studies using social media recruitment, where detecting fraudulent participants has become increasingly difficult. The prevalence of inaccurate data raises serious questions about the integrity, reliability, and validity of research findings. We explore potential sources of participant fraud and inconsistency informed by prior, direct experience with fraudulent participants, discussing various strategies to strengthen participant screening, data validation, and interview protocols. We also examine the challenges screening methods pose for marginalized communities, who may already harbor distrust in research or face privacy concerns. We emphasize the need for transparent, responsible approaches to participant verification and advocate for developing standardized guidelines to protect both research quality and participant rights. By promoting trust, inclusivity, and fairness in research practices, we aim to preserve the dignity of participants and ensure that genetic counseling research remains rigorous. Ultimately, we call for collective action to reinforce the integrity of research and enhance its impact on clinical practice, ensuring that evidence-based insights guide patient-centered care.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70048","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143914274","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":"Benefits, limitations, and impacts of reproductive carrier screening and telehealth-based genetic counseling for individuals with an increased chance to have a child with a genetic condition","authors":"Melanie Walker Hardy,&nbsp;Katherine Bruder,&nbsp;Ami Rosen,&nbsp;Nadia Ali,&nbsp;Dawn Laney,&nbsp;Renee H. Moore,&nbsp;Estie Rose,&nbsp;Yuxian Sun,&nbsp;Karen Arnovitz Grinzaid","doi":"10.1002/jgc4.70002","DOIUrl":"https://doi.org/10.1002/jgc4.70002","url":null,"abstract":"<p>JScreen offers reproductive carrier screening and follow-up genetic counseling via telehealth to individuals and couples who wish to know whether they have an increased reproductive chance (IRC) of having a child with a genetic condition. Reproductive carrier screening (RCS) is clinically useful, but it may elicit powerful emotions and concerns about follow-up options for individuals and couples if they are found to have an IRC. The purpose of this cross-sectional study was to explore how JScreen patients found to have an IRC were impacted by the knowledge gained in the process of screening and disclosure of results through telehealth genetic counseling. One thousand seventy-five (1075) eligible individuals were sent a survey with questions about information utilization, anxiety about results, reproductive decision-making, and satisfaction with the telehealth genetic counseling services provided by JScreen. Two-hundred ninety (290) responses were collected and analyzed, representing one of the largest sample sizes on this topic. We found that participants used the information provided by their genetic counselor at the results disclosure session in various ways, including recommending carrier screening to others and seeking additional information and clinical support. Participants were highly satisfied with their telehealth genetic counseling experience and found the amount and quality of information provided to be helpful. We found that 54.1% of couples with an IRC considered an alternative reproductive plan (ARP) for future pregnancies. Participant perceptions of disease severity and likelihood of having an affected child were positively associated with considering and pursuing an ARP. This study demonstrates the many ways patients use the information provided by carrier screening and suggests that patients may benefit from additional educational resources and support. It also provides evidence of patients' high level of satisfaction with telehealth genetic counseling in RCS and the impact of RCS on reproductive decision-making.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143914275","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":"Reproductive decision-making for Barth syndrome carriers: Unexplored complexities","authors":"Julia Castro,&nbsp;Cynthia A. James,&nbsp;Jill Owczarzak,&nbsp;Rebecca McClellan,&nbsp;Leila Jamal","doi":"10.1002/jgc4.70035","DOIUrl":"https://doi.org/10.1002/jgc4.70035","url":null,"abstract":"<p>Reproductive decision-making is a complex process, especially for carriers of a pathogenic X-linked genetic variant. Studies of X-linked carriers have identified various personal values and concerns that influence reproductive decisions, but these studies provide limited insight into decisional conflict during the reproductive decision-making process. This study aims to explore how carriers of variants known to cause Barth syndrome, a rare X-linked disorder, navigate and experience decisional conflict during reproductive decision-making. Semi-structured interviews were conducted with 27 Barth syndrome carriers recruited through the Barth Syndrome Foundation. Data was analyzed using reflexive thematic analysis with special attention paid to narratives of high and low decisional conflict and the values around which decisional conflict occurred. Findings showed that decisional conflict was a result of internal conflicts between competing value systems. To address decisional conflict, carriers re-prioritized their values, reconsidered the extent to which they allowed certain values to influence reproductive decisions, and altered the content of their values. Value systems could also be reshaped over time by personal experiences, which then could modify levels of decisional conflict in reproductive decisions. Decisional conflict often induces feelings of stress and guilt and could be exacerbated by the opinions of others. Genetic counselors are well equipped to provide decisional and emotional support to X-linked carriers during reproductive decision-making, and their services may help reduce decisional conflict and the negative emotions that accompany it. Counselors whose practice involves creating long-term relationships with patients should help carriers to identify factors that are contributing to internal value conflict and to decide whether and how they want support in this. This support may be provided through long-term genetic counseling structures or partnerships between genetic counselors, support organizations, and mental health professionals.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70035","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143914276","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":"Genetic counseling program director competencies as proposed by the program leadership development subcommittee of the Genetic Counselor Educators Association","authors":"Monica L. Marvin,&nbsp;Dawn C. Allain,&nbsp;Erin P. Carmany,&nbsp;Claire Davis,&nbsp;Karin M. Dent,&nbsp;Pamela Flodman,&nbsp;Ian M. MacFarlane,&nbsp;Jenna Scott,&nbsp;Carol S. Walton","doi":"10.1002/jgc4.70044","DOIUrl":"https://doi.org/10.1002/jgc4.70044","url":null,"abstract":"<p>The growth and maintenance of a highly qualified genetic counselor workforce necessitates the cultivation of competent leaders of accredited genetic counseling graduate programs. This study aimed to identify essential competencies for Genetic Counseling Program Directors (GCPDs) using a modified Delphi approach. The study was facilitated by the Program Leadership Development Subcommittee of the Association of Genetic Counseling Program Directors (now the Genetic Counselor Educators Association) and included experienced program directors and associate directors from accredited programs in North America. The process began with a literature review identifying key leadership competencies in medical education, allied health, and other fields resulting in an initial list of 127 potential competencies across nine domains. Graduate program leaders participated in an initial survey, rating the importance of each competency. Subsequent rounds of ranking and feedback enabled prioritization, refinement, and consolidation of critical competencies. The process achieved consensus among the subcommittee on 34 foundational competencies, classified into four domains: Leadership, Relationships, Operations, and Education, with Leadership positioned at the core due to its integral role. A key addition that had not been identified in the literature review or survey responses was a competency related to applying the principles of equity, diversity, inclusion, and justice throughout the program, bringing the final number of competencies to 35. This framework of competencies provides a scaffolding for designing targeted professional development and educational opportunities, which will, in turn, help create a robust and effective GCPD leadership pipeline and inform the evaluation of GCPDs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70044","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143914369","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":"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}