Journal of Genetic Counseling最新文献

{"title":"Parents' perspectives of non-informative germline genetic testing in children with Juvenile Polyposis Syndrome","authors":"Kayla Rud,&nbsp;Kelcy Smith-Simmer,&nbsp;Jennifer Weiss,&nbsp;Kristina Garcia","doi":"10.1002/jgc4.70140","DOIUrl":"10.1002/jgc4.70140","url":null,"abstract":"<p>Juvenile Polyposis Syndrome (JPS) is a hereditary gastrointestinal polyposis condition characterized by the development of multiple juvenile-type hamartomatous polyps. Approximately half of individuals meeting clinical diagnostic criteria for JPS have an identifiable germline pathogenic variant in <i>SMAD4</i> or <i>BMPR1A</i>, while the remaining individuals have non-informative genetic results. For pediatric cases, the proportion of children with an identifiable causative variant is likely much lower, with one study noting only 22% of pediatric patients having informative genetic testing. This qualitative study utilized surveys and interviews to explore the impact of non-informative germline genetic results for JPS on parents' understanding of their child's diagnosis and prognosis, as well as recurrence risk and familial screening uptake. Coding reliability thematic analysis of transcripts was completed through open inductive coding. Common parental experiences emerging from interviews with eight parents of seven children with JPS included emotional turmoil throughout the diagnostic process, prognostic unpredictability, and limited familial screening uptake. While the majority of participants (<i>n</i> = 7/8, 87.5%) correctly recalled their child's genetic testing results, those that did not receive genetic counseling (<i>n</i> = 3/8, 37.5%) described feeling confused and uninformed in the pre- and post-test setting. A majority of participants (<i>n</i> = 6/8, 75%) questioned the permanence, natural history, and severity of their child's JPS, while those with more time to cope felt greater clarity and less concern. Such parental perceptions were noted to be heavily influenced by differences in polyp burden over time, genetic testing results, and initial acceptance of the clinical diagnosis. The desire for a genetic diagnosis to increase clarity in their child's long-term management recommendations was noted by some participants (<i>n</i> = 2/8, 25%). Our findings highlight the importance of timely and clear education surrounding prognosis, early incorporation of a genetic counselor in the diagnostic process, and providing follow-up appointments to address misconceptions and resolve uncertainty.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544118","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}

{"title":"Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families","authors":"Tamer Hodrob,&nbsp;Alaaeddin Abusalameh,&nbsp;Ibrahim Ismail,&nbsp;Bayan Awesat,&nbsp;Marah Deeb,&nbsp;Duha Maslamani,&nbsp;Rinad Shweiki,&nbsp;Dareen Njoom,&nbsp;Nadirah Damseh","doi":"10.1002/jgc4.70134","DOIUrl":"10.1002/jgc4.70134","url":null,"abstract":"<p>Preconception care (PCC), particularly genetic testing, is essential for improving reproductive health outcomes in high-risk families, including those with consanguineous marriages. Whole-exome sequencing (WES) has shown promise in identifying autosomal recessive disorders, yet its use in preconception screening (PCS) has not been extensively studied in regions with high consanguinity, such as Palestine. This retrospective cross-sectional study aimed to assess the diagnostic yield of WES in identifying autosomal recessive genetic disorders in consanguineous Palestinian couples, particularly those with previously undiagnosed conditions. Forty consanguineous couples were recruited from outpatient genetic clinics across Palestine between 2021 and 2024. Recruitment was conducted through referrals from primary care physicians due to a history of consanguinity, recurrent pregnancy losses or a relative with confirmed or suspected genetic disorder. The results revealed that 72.5% (29/40, 95% CI: 56.1%–85.4%) of couples carried pathogenic/likely pathogenic (P/LP) variants, with 86.2% (25/29, 95% CI: 68.3%–96.1%) being carriers of autosomal recessive conditions not previously identified within their families. Of those with positive results, 48.3% (14/29, 95% CI: 29.4%–67.5%) carried more than one P/LP variant. Incidental or secondary findings (ISFs) were observed in 7.5% (3/40, 95% CI: 1.6%–20.4%) of the couples. These findings emphasize the value of WES as a comprehensive genetic screening tool, particularly in populations with high consanguinity, and its potential to enhance preconception care and reduce the burden of genetic disorders.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145544240","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}

{"title":"Voices in practice: Exploring genetic counseling ethical, cultural, social, and religious dynamics in the UAE","authors":"Hind J. Almarri,&nbsp;Sameera Koodakkadavath,&nbsp;Azhar T. Rahma,&nbsp;Muna Al Saffar","doi":"10.1002/jgc4.70139","DOIUrl":"https://doi.org/10.1002/jgc4.70139","url":null,"abstract":"<p>Genetic counseling is expanding globally, yet remains underexplored in Middle Eastern contexts. In the United Arab Emirates (UAE), rapid biomedical advancements intersect with traditional sociocultural and religious norms, presenting unique contexts for clinical practice. This study explored the perspectives of genetic counselors and clinical geneticists to identify key sociocultural, ethical, and systemic factors influencing genetic counseling in the UAE. Guided by a constructivist–interpretivist paradigm, we conducted semi-structured interviews, generating a dataset from 11 professionals (seven genetic counselors, four clinical geneticists) practicing in the UAE between January and August 2024. Data were analyzed using Braun and Clarke's reflexive thematic analysis, reported in accordance with RTARG guidelines. The analysis was predominantly inductive, while the Consolidated Framework for Implementation Research (CFIR) was used deductively as a sensitizing framework for themes relating to institutional and systemic influences. Four major themes were constructed: (1) Social and cultural dynamics, including stigma, limited genetic literacy, and family-centered decision-making, influenced engagement and consent; (2) Religious perspectives: faith offered resilience but at times fostered fatalism that limited intervention; (3) Ethical considerations: autonomy, confidentiality, and informed consent were negotiated within collectivist family structures; and (4) Systemic factors, including limited interprofessional coordination, the need for UAE-specific training and time constraints. The Emirati Genome Program was described as a facilitator of awareness and management. Participants emphasized the need for culturally responsive, semi-directive counseling approaches, enhanced consent processes, and targeted community education. Our interpretive analysis underscores the need for culturally responsive, semi-directive counseling approaches that balance respect for autonomy with relational guidance. These insights provide a framework for strengthening practice, training, and policy in the UAE and may be applicable across Gulf and MENA healthcare systems with similar sociocultural dynamics.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70139","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145522269","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":"Outcome data for non-invasive prenatal testing suggestive of an atypical sex chromosome abnormality of fetal/placental origin","authors":"Matthew Rich,&nbsp;Salman Ali Jan,&nbsp;Courtney Fraser,&nbsp;Jane Waldron,&nbsp;Mary-Alice Abbott","doi":"10.1002/jgc4.70138","DOIUrl":"10.1002/jgc4.70138","url":null,"abstract":"<p>This study was designed to identify outcome data for non-invasive prenatal testing (NIPT) results suggestive of an atypical sex chromosome abnormality of fetal/placental origin. A single-center descriptive case series was performed between January 1, 2022 and August 1, 2024, which identified 16 cases, 11 of which completed diagnostic testing. Of those 11 cases, only 2 were found to have detectable chromosomal abnormalities of the fetus (monosomy X and mosaic monosomy X). The majority of the 9 cases without detectable fetal chromosome abnormalities cannot be assessed for the presence of confined placental mosaicism due to the lack of CVS testing; however one confirmed case was identified. While this case series is limited in size, it highlights examples that can be used by clinicians in counseling patients about possible outcomes for these atypical NIPT results. These cases also showcase the importance of pre and post-test counseling, due to the complexity of results. Larger studies are needed to elucidate the mechanisms underlying these findings and to further guide patient counseling.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145497468","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}

{"title":"Healthcare professionals' perspectives on supporting individuals with NF1 during pregnancy and decision-making processes","authors":"Gamze Kaplan,&nbsp;Debbie M. Smith,&nbsp;Ming Wai Wan,&nbsp;Emma Burkitt-Wright,&nbsp;Shruti Garg","doi":"10.1002/jgc4.70137","DOIUrl":"10.1002/jgc4.70137","url":null,"abstract":"<p>Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition characterized by highly variable presentation, making reproductive decision-making and pregnancy care particularly complex. While previous research has focused largely on clinical outcomes, little is known about how healthcare professionals (HCPs) provide care and communicate with patients during this process. This qualitative study explores the views and experiences of HCPs in providing reproductive and pregnancy-related care for individuals with NF1. Fifteen semi-structured interviews were conducted with genetic counselors, NF specialist nurses, and clinical geneticists in the UK. Reflexive thematic analysis was used to analyze the data. HCPs described supporting informed reproductive choices as central to their role, but this was often complicated by the unpredictable nature of NF1 and varying levels of patient understanding. They emphasized the importance of discussing reproductive choices early, yet found it particularly difficult to offer clear guidance when patients had mild symptoms themselves or drew on diverse family experiences to interpret risk. These challenges were further compounded by systemic barriers, such as limited consultation time, lack of standardized communication tools, and insufficient training. This study highlights the need for more structured and consistent communication practices to support patients with NF1 during reproductive and pregnancy care. A simplified, context-specific visual tool informed by the theoretical domains framework (TDF) may enhance counseling practice.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12603883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145490328","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":"Perspectives of Italian lay persons who would decline genetic risk information: “I think I'd be living in constant worry”","authors":"Lea Godino,&nbsp;Linda Battistuzzi,&nbsp;Liliana Varesco,&nbsp;Daniela Turchetti,&nbsp;Vanessa Gentili,&nbsp;Paolo Chiari,&nbsp;Alvisa Palese","doi":"10.1002/jgc4.70126","DOIUrl":"10.1002/jgc4.70126","url":null,"abstract":"<p>This study explores lay public perspectives on intrafamilial genetic risk communication, focusing on individuals who hypothetically choose not to receive genetic information, a largely overlooked population in genetic counseling research. A nested cross-sectional online survey combining both closed- and open-ended questions was used. Quantitative data included sociodemographic characteristics, family functioning as measured with the SCORE-15, genetic literacy (score range 0–4), and preferences regarding whether participants would want to be informed of a genetic risk in their family across three hypothetical scenarios (Cystic Fibrosis, Hereditary Breast and Ovarian Cancer and early-onset Alzheimer's disease). These data were analyzed using descriptive and inferential statistics. Qualitative data, consisting of open-ended responses on the reasons for not wanting to be informed, were analyzed inductively through reflexive thematic analysis. Of the 609 lay participants, 44 (7.2%) expressed a hypothetical preference not to be informed of a genetic risk in their family. Qualitative analysis of their responses revealed four main themes: (1) worry about anxiety and emotional distress in oneself and loved ones; (2) protection against psychological harm; (3) probability, uncertainty, and skepticism about preventive medicine; and (4) worry about stigma. These findings highlight the emotional, ethical, and social complexity behind the decision to decline genetic risk information and underscore the need for strategies to encourage and facilitate intrafamilial genetic risk communication that goes beyond education alone.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145490375","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}

{"title":"Provider perceptions and insights on polygenic risk scores for colorectal cancer: A qualitative study","authors":"Shenazar Esmundo,&nbsp;Nenette Caceres,&nbsp;Charité Ricker,&nbsp;Gregory E. Idos,&nbsp;Nicole C. Loroña,&nbsp;Yelba Castellon-Lopez,&nbsp;Stephanie L. Schmit,&nbsp;Cathy D. Meade,&nbsp;Clement K. Gwede,&nbsp;Nathalie T. Nguyen,&nbsp;Jane C. Figueiredo","doi":"10.1002/jgc4.70135","DOIUrl":"10.1002/jgc4.70135","url":null,"abstract":"<p>Polygenic risk scores (PRS), a measure that sums multiple common genetic susceptibility variants into a single burden measure, can help identify individuals at higher risk for colorectal cancer (CRC). Consequently, there is growing interest in its potential use to guide screening practices, despite the current lack of evidence-based guidelines on the clinical utility of PRS models. Therefore, there is a need to understand the potential challenges and factors associated with PRS use in primary care settings. This qualitative study explores the perceptions of healthcare providers with PRS information to guide CRC screening decisions in the primary care setting. Using an exploratory approach, we conducted semi-structured interviews with 10 healthcare providers. The socioecological model guided the development of the interview questions. Transcripts were coded based on emergent themes. A total of seven themes were identified in this study, and each was organized using the socioecological model at the individual, interpersonal, community, and organizational levels. One key finding was the limited knowledge of PRS and the distinction between PRS and genetic testing for high-penetrant germline mutations. Providers shared the need for training, education, and comprehensive clinical guidelines for the use of PRS. This study provides insights to better optimize genetic education, testing, access, and care for improved CRC screening in at-risk individuals.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12604444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145490461","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":"Population-based hereditary cancer screening in a general endoscopy clinic: Evaluating interest in, uptake, and outcomes of genetic services","authors":"Leanne Baird,&nbsp;Aika Miikeda,&nbsp;Hitashi Bansal,&nbsp;Gautam Mankaney","doi":"10.1002/jgc4.70132","DOIUrl":"10.1002/jgc4.70132","url":null,"abstract":"<p>Hereditary cancer syndromes are underdiagnosed due to limitations in guideline-based referral systems that rely on personal/family history and provider recognition. We evaluated the interest in, uptake of, and outcomes of genetic services by adults in an ambulatory endoscopy center to determine if population-based genetic screening could aid in hereditary cancer syndrome identification. Between February and September 2024, a hereditary cancer screening questionnaire was developed and distributed to 1010 adults at a community endoscopy clinic. The tool was based on National Comprehensive Cancer Network (NCCN) criteria and was designed to flag individuals with personal/family history suggestive of inherited cancer risk. We offered all participants a referral to genetic counseling regardless of risk. A total of 135 individuals (13.4%) expressed interest in a genetic counseling referral, with significantly higher interest among those who screened as high-risk and those who were younger: 105 (19.8%) of high-risk participants compared to 30 (6.2%) of low-risk participants (<i>p</i> &lt; 0.001), and individuals under 45 years compared to those 45 and older (<i>p</i> &lt; 0.002). Only 25 participants completed genetic counseling, and 11 proceeded with testing. Two individuals (18.1% of those tested) were found to have a pathogenic or likely pathogenic variant in hereditary cancer syndrome genes: <i>ATM</i> and <i>NTHL1</i>. Both met NCCN criteria but had not been previously referred for genetic counseling. Our self-administered screening tool successfully identified individuals at risk for hereditary cancer syndromes, including those who would have otherwise been missed. However, the feasibility, efficacy, and overall clinical value of population-based genetic screening in an average-risk population remain debatable given our labor-intensive process and low diagnostic yield observed in our study. Despite these challenges, our findings highlight three promising avenues to improve the identification of individuals with hereditary cancer syndromes and increase uptake of genetic services: continuing to prioritize high-risk individuals using traditional referral models, with an emphasis on improving provider education and recognition of at-risk individuals; leveraging technology to streamline risk assessment and referrals; and targeting younger populations who may be more interested and benefit from earlier intervention.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145460679","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}

{"title":"Factors impacting experience of genetic testing among adults with inherited retinal diseases","authors":"Emma Melhuish,&nbsp;Joshua Schultz,&nbsp;Alexis Ceecee Britten-Jones","doi":"10.1002/jgc4.70130","DOIUrl":"10.1002/jgc4.70130","url":null,"abstract":"<p>Genetic testing for inherited retinal diseases (IRDs) has become more accessible in Australia in recent years; however, it is not clear how different factors influence the experiences of genetic counseling and support needs. This study used a phenomenological approach to explore the experiences of adults (over 18 years) who had genetic testing in Australia for an IRD, and factors that impacted their perceptions and support needs. Semi-structured interviews were undertaken, transcribed, and de-identified from 14 interviews with adults living with an IRD, representing a diverse range of experiences. Reflexive thematic analysis was used to iteratively code the transcripts and construct key themes. The four key themes impacting the experience of genetic testing were: (1) Expectations of genetic testing outcomes and expectations. The possibility of emerging treatments often influenced the expectations that people with IRDs had of genetic testing. (2) Personal attitudes toward an IRD diagnosis and how this interacted with individual identity, with higher support needs reported by individuals who accessed genetic testing shortly after their clinical diagnosis compared to those who had lived with an IRD diagnosis for a longer time. (3) Family context as a source of lived experience and emotional support. (4) Logistics of the genetic testing process, with inconsistent pathways of communication between healthcare providers impacting access and follow-up support. Individuals with IRDs who underwent genetic testing placed a high value on having this information. However, additional genetic counseling support is needed for individuals undergoing genetic testing soon after receiving a clinical diagnosis, those with complex family/cultural dynamics, and those receiving inconclusive results. Setting appropriate expectations around outcomes and addressing logistical factors are important for guiding the overall genetic testing experience.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145453981","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}

{"title":"Cascade testing in an ovarian cancer traceback genetic testing program: The GRACE study experience","authors":"Jamilyn M. Zepp,&nbsp;Heather S. Feigelson,&nbsp;Yolanda K. Prado,&nbsp;Ana A. Reyes,&nbsp;Alan F. Rope,&nbsp;Jennifer K. Sawyer,&nbsp;Sheila Weinmann,&nbsp;Larissa L. White,&nbsp;Jessica Ezzell Hunter,&nbsp;Nora B. Henrikson","doi":"10.1002/jgc4.70133","DOIUrl":"10.1002/jgc4.70133","url":null,"abstract":"<p>Approximately 20% of individuals diagnosed with ovarian cancer (OC) have an inherited pathogenic or likely pathogenic variant (P/LP) in a cancer risk gene. Though genetic testing for hereditary cancer risk is currently recommended at OC diagnosis, individuals who have not received risk information and their at-risk relatives (ARR) can benefit from genetic testing at any point. In a single-arm implementation study, the Genetic Risk Assessment in Ovarian CancEr (GRACE) study offered traceback genetic testing using a panel of cancer risk genes to (1) living survivors with a prior OC diagnosis who had not received genetic testing at diagnosis and (2) first-degree relatives of deceased eligible probands with a prior OC diagnosis who had not received genetic testing. For survivors and first-degree relatives with a positive result (i.e., P/LP detected), we offered cascade testing to ARR, including providing support resources to facilitate communication with their relatives and offering to directly contact relatives. Traceback testing occurred on average 10–12 years from the incident OC diagnosis, resulting in 20 positive findings with 93 ARR eligible for cascade testing. Overall, cascade testing uptake was 38%, with similar rates among relatives of living (40%) and deceased (33%) probands. Cascade testing identified 11 individuals with OC-risk variants and 3 incidental findings in genes not associated with OC risk. Women were more likely to complete cascade testing than men (45% vs. 30%, respectively). Initially, only two probands consented to direct contact with ARR by the study genetic counselor; 6 additional probands requested direct contact with relatives over subsequent interactions. These findings represent some of the first U.S. data available on cascade testing outcomes of traceback programs and suggest feasibility and effectiveness in U.S. health system settings.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145453934","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}