Journal of Genetic Counseling最新文献

{"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}

{"title":"Research methods in genetic counseling: Statistical approaches and resources","authors":"Benjamin M. Helm,&nbsp;Leah Wetherill","doi":"10.1002/jgc4.70042","DOIUrl":"https://doi.org/10.1002/jgc4.70042","url":null,"abstract":"<p>The continuing evolution of the genetic counseling profession necessitates an ongoing reflection on the perceived validity and role of our research in the larger systems we operate in. Despite our need for an analytically inclined professional culture and decision-making process, many genetic counselors may not have the training or support needed to ensure such rigor. In this special issue of the <i>Journal of Genetic Counseling</i>, authors were tasked with providing methodological foundations for genetic counselors navigating various phases of research, to improve the quality of our research output and to incorporate our findings into decision-making in healthcare and non-healthcare settings. In this manuscript, we describe various statistical approaches in lay terms and provide resources for genetic counselors new and seasoned alike. We hope to ease some of the trepidation in applying statistical approaches to genetic counseling research and provide resources to increase the analytical confidence of our workforce. This can increase the validity of the analyses and findings disseminated within and beyond our profession. First, we review some history and foundations of statistical practices that inform study design, sampling, data collection, analysis, and interpretation. Next, we highlight how different study designs inform the choice of data analysis and provide resources for statistical strategy choice. Finally, we provide resources on how to interpret statistical test results, recommend best practices, and highlight common but avoidable misconceptions in statistical interpretation. We hope this review provides a framework for novices in quantitative methodology and provides the language needed to collaborate with analytical/statistical colleagues.</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/jgc4.70042","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892948","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":"Association between proband characteristics and CDH1 cascade genetic testing uptake in at-risk relatives","authors":"Grace-Ann Fasaye,&nbsp;Kathleen Calzone,&nbsp;Elise Travis,&nbsp;Amber F. Gallanis,&nbsp;Lauren Gamble,&nbsp;Jeremy L. Davis","doi":"10.1002/jgc4.70011","DOIUrl":"https://doi.org/10.1002/jgc4.70011","url":null,"abstract":"<p>Cascade genetic testing involves testing at-risk relatives for a gene variant identified in the family to tailor clinical management. The first person in a family identified with a pathogenic or likely pathogenic variant is the proband. We aimed to determine proband characteristics associated with cascade testing for the <i>CDH1</i> gastric and breast cancer susceptibility gene. Cascade genetic testing proportions in 100 <i>CDH1</i> families were analyzed. Overall, 57% (248/427) of proband's first-degree relatives (FDR) and 31% (135/436) of second-degree relatives (SDR) underwent testing. Proband characteristics associated with higher mean proportions of genetic testing in FDR included male sex (<i>p</i> = 0.03) and personal history of gastric cancer (<i>p</i> = 0.05). A difference was also detected in mean uptake proportions by proband's race/ethnicity. White probands had higher mean proportions of SDR tested (40%) compared to Asian (9%, <i>p</i> = 0.02) and Black (5%, <i>p</i> = 0.001) probands. Testing proportions in FDR and SDR increased with the length of time from proband's <i>CDH1</i> diagnosis (FDR <i>p</i> &lt; 0.001, SDR <i>p</i> = 0.002). Age when proband was tested, personal history of breast cancer, and variant in another cancer gene did not influence testing uptake in FDR and SDR. Proband characteristics associated with higher <i>CDH1</i> cascade genetic testing proportions include male sex, White race/ethnicity, and a personal history of gastric cancer. Probands who are female, Asian, Black, and those without a personal history of gastric cancer may require tailored support facilitating <i>CDH1</i> cascade testing in at-risk relatives. Additional studies are needed to gain a deeper understanding of how proband characteristics influence the uptake of cascade genetic testing for cancer risk.</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":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143893030","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":"Breast cancer risk assessment evaluation of screening tools for genetics referral for women in Taiwan","authors":"Suying Fang,&nbsp;Yaolung Kuo,&nbsp;Pengchan Lin","doi":"10.1002/jgc4.70010","DOIUrl":"https://doi.org/10.1002/jgc4.70010","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Risk screening tools recommended by the United States Preventative Services Task Force (USPSTF) are used to screen potential BRCA1/2 pathogenic variant carriers. The purpose of this study was to identify an appropriate breast cancer risk-screening tool for genetic referral among women with a family history of breast cancer in Taiwan.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cross-sectional design with convenience sampling was used in this study. Women with a family history of breast cancer but not diagnosed with breast cancer were recruited from surgical outpatient clinics. Sociodemographic and family cancer history were collected based on the screening tools. Both the Tyrer-Cuzick (IBIS) and BRCAPRO were used as a Gold standard to evaluate the accuracy of five screening tools. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and the areas under the receiver-operating curve (AUC) were compared to identify the most accurate one to determine women with elevated risk as defined by IBIS and BRCAPRO calculations with lifetime risk over 15%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>One hundred twenty-four women with a family history of breast cancer but not yet diagnosed as breast cancer were recruited in this study. When the Tyrer-Cuzick (IBIS) was used as the standard, the AUC for the tools ranged from 0.490 to 0.562. When the BRCAPRO was used as the standard, the <i>p</i> values of the Ontario Family History Assessment Tool (Ontario-FHAT) (<i>p</i> = 0.003) and Pedigree Assessment Tool (PAT) (<i>p</i> = 0.016) were significant, and the AUCs were 0.938 and 0.854 for Ontario-FHAT and PAT, respectively. Since the sensitivity of Ontario-FHAT was 100, which is higher than PAT, we considered that using Ontario-FHAT in Taiwanese women would be better than using PAT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Ontario-FHAT would be an appropriate screening tool for identifying individuals in Taiwan who may need a genetic referral for further BRCA1/2 risk evaluation.</p>\u0000 </section>\u0000 </div>","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/jgc4.70010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892947","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":"Ethno-racial differences in the frequency of cancer reported from family pedigrees in the prenatal genetic counseling setting","authors":"Alex Palacios,&nbsp;Pamela Flodman,&nbsp;Kathryn Steinhaus French,&nbsp;Moyra Smith,&nbsp;Fabiola Quintero-Rivera","doi":"10.1002/jgc4.70038","DOIUrl":"https://doi.org/10.1002/jgc4.70038","url":null,"abstract":"<p>This study analyzed whether differences in cancer reporting exist between different ethno-racial groups in pedigrees from a prenatal <i>genetic counseling</i> setting. Data were collected from 446 charts at University of California, Irvine from January 1, 2015 to August 31, 2020. A total of 795 pedigrees meeting inclusion criteria were analyzed from four ethno-racial groups: White, Hispanic/Latinx, Asian, and African American/Black. The total number of first- and second-degree relatives affected with cancer was analyzed using contingency tables, nonparametric tests, and Poisson regression. Cancer reporting in first- and second-degree relatives was highest among the White group and lower in the Latinx, Asian, and Black groups. Ethno-racial group, presence or absence of the prospective father, and medical interpreter use were significant factors in predicting the number of relatives reported to have cancer in a Poisson regression model. Controlling for the total number of relatives in the pedigree, cancer reporting rates for the Latinx, Black, and Asian groups were 36.3%, 50.2%, and 65.5%, respectively, of that in the White pedigrees. Cancer reporting rates observed in Asian pedigrees (in comparison to White pedigrees) were similar to the rates reported by the Centers for Disease Control and Prevention, but reporting in the Latinx and Black pedigrees was less than would be expected based on population incidence. This suggests that cancer histories in some people of color (POC) may be truncated. Healthcare professionals should recognize that certain patient populations may have limited knowledge of their family cancer history, or that such information may not be disclosed due to nuances of cultural differences or possible provider bias. In order to provide appropriate <i>risk assessment</i>, <i>interventions</i> addressing structural barriers should be undertaken in prenatal clinics to reduce existing health <i>disparities</i> and improve health outcomes in POC, since this may be the only opportunity to obtain a comprehensive family health history.</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/jgc4.70038","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143892950","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":"The impact of language discordance on genetic counselors' ability to establish a working alliance with patients","authors":"Anna Burton,&nbsp;Dana Schlegel,&nbsp;Charité Ricker,&nbsp;Beverly M. Yashar","doi":"10.1002/jgc4.70019","DOIUrl":"https://doi.org/10.1002/jgc4.70019","url":null,"abstract":"<p>We explored the impact of language discordance (LD) on quality of care by asking genetic counselors (GCs) about their perception of how their lack of proficiency in a patient's language affects their sessions. We hypothesized that contracting, which relies on ongoing, bidirectional communication between GC and patient, is particularly vulnerable to LD. Specifically, we evaluated the impact of dialogue engagement (whether GCs ranked dialogue as more one-sided/rigid or more interactive/conversational), time sufficiency (how adequate the GCs ranked the time allotted for the session), and interpreter-related factors (experience and relationship with interpreters; perceived ability and knowledge of how to work with interpreters) on GCs' perceived ability to contract in LD sessions. Forty-five GCs recruited from the NSGC listserv completed a 42-item survey exploring these topics through reflection on their most recent LD and language concordant (LC) sessions. The outcome measure of “perceived contracting success” was defined based on five practice-based competencies. Results were analyzed using Wilcoxon signed ranks tests and linear regressions and found that GCs' perceived (1) contracting success, (2) dialogue engagement, and (3) time sufficiency were significantly lower in LD sessions (<i>p</i> &lt; 0.001 for all 3). Perceived contracting success in LD sessions had a positive relationship with both perceived dialogue engagement and perceived time sufficiency (<i>r</i>² = 0.312, 0.103). Also, perceived dialogue engagement increased with higher perceived time sufficiency and trust in the interpreter (<i>r</i>² = 0.235, 0.27). Our study is the first to quantitatively explore factors impacting perceived contracting success in LD GC sessions and suggests that LD may hinder communication and session tailoring. This highlights the importance of GCs being more intentional about having interactive dialogue with patients in LD sessions, considering allotting more time for LD sessions, and meeting with the interpreter prior to LD sessions to establish a trusting relationship.</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/jgc4.70019","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143893009","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}