Journal of Genetic Counseling最新文献

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The efficacy of genetic counseling for familial colorectal cancer: A meta-analysis 遗传咨询对家族性结直肠癌的疗效:荟萃分析
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-06-03 DOI: 10.1002/jgc4.70046
Andrada Ciucă, Tara Clancy, Sebastian Pintea, Ramona Moldovan
{"title":"The efficacy of genetic counseling for familial colorectal cancer: A meta-analysis","authors":"Andrada Ciucă,&nbsp;Tara Clancy,&nbsp;Sebastian Pintea,&nbsp;Ramona Moldovan","doi":"10.1002/jgc4.70046","DOIUrl":"https://doi.org/10.1002/jgc4.70046","url":null,"abstract":"<p>Genetic counseling has been proven to be effective for several conditions in relation to outcomes such as risk perception and knowledge. By statistically combining data from individual studies, a meta-analysis can provide a precise estimate of an intervention's overall effect. The aim of this quantitative meta-analysis was to assess the efficacy of genetic counseling for familial colorectal cancer and to explore characteristics that might influence the direction or magnitude of the relationship between the intervention and the outcome. We conducted an electronic search of literature published until March 2024. This identified 3150 articles, 30 of which met the inclusion criteria. Effect size parameters and sample sizes for all variables in each study were included. Results showed that genetic counseling has an overall statistically significant effect size of small magnitude (<i>d</i> = 0.234). Results indicate that genetic counseling is effective for affective (<i>d</i> = 0.162), cognitive (<i>d</i> = 0.298), and behavioral outcomes (<i>d</i> = 0.539); for individuals with a personal and/or family history; whether testing is diagnostic or predictive; and, with the exception of uncertain/uninformative results (4 studies), regardless of the testing results. Also, clinical/research teams that included a genetic counselor generated a significantly larger effect compared to teams without a genetic counselor. Our analysis showed that genetic counseling is effective for familial colorectal cancer. These results should encourage theoretical analyses and empirical studies exploring the process and rationale of genetic counseling from a more programmatic perspective.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70046","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144197477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
BIPOC genetic counseling students' perspectives on career-oriented social media use: Results from a longitudinal qualitative study BIPOC遗传咨询学生对职业导向社交媒体使用的看法:一项纵向定性研究的结果
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-06-03 DOI: 10.1002/jgc4.70062
Sheilly Patel, Kimberly Zayhowski, Joselyn Saenz Diaz, Nikkola Carmichael
{"title":"BIPOC genetic counseling students' perspectives on career-oriented social media use: Results from a longitudinal qualitative study","authors":"Sheilly Patel,&nbsp;Kimberly Zayhowski,&nbsp;Joselyn Saenz Diaz,&nbsp;Nikkola Carmichael","doi":"10.1002/jgc4.70062","DOIUrl":"https://doi.org/10.1002/jgc4.70062","url":null,"abstract":"<p>Social media plays a significant role in career exploration and professional networking, yet its use by Black, Indigenous, and People of Color (BIPOC) genetic counseling students remains underexplored. This study examines the use of social media by BIPOC genetic counseling students and its potential to increase diversity in the profession. As part of a longitudinal study using a constructivist grounded theory approach, semi-structured interviews were conducted with 25 current BIPOC genetic counseling students. Through reflexive thematic analysis, themes were conceptualized; these revealed a desire, as prospective students, for more social media content made by BIPOC genetic counseling students and increased awareness of existing resources. Barriers to posting genetic counseling-related content as current students included time constraints, perceived lack of credibility, and concerns about damaging professional identity. Despite these barriers, some participants expressed a desire to post more actively after graduation, particularly about advocacy related to the field. The findings highlight a noteworthy reliance by prospective genetic counseling students on social media for information, contrasting with a low supply of content from current students and professionals. To address this gap, we suggest implementing training and mentoring practices focused on social media use, promoting paid opportunities for BIPOC students to create content, and encouraging open discussion about social media engagement within training programs. By fostering a supportive environment and highlighting successful examples of social media use from current genetic counselors, BIPOC students may feel more empowered to share their experiences and insights, enhancing awareness of genetic counseling as a career option for BIPOC individuals. This study underscores the importance of addressing barriers to social media engagement among BIPOC genetic counseling students to promote a more diverse and inclusive profession.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70062","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144197478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A qualitative study into the experiences of families affected by developmental disorders seeing the UK NHS Genetics Service; if I had known then what I know now 一项定性研究的经验,受影响的家庭发育障碍看到英国国民保健服务遗传服务;如果我当时知道我现在所知道的
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-06-03 DOI: 10.1002/jgc4.70063
Emma Carter, Flora Joseph
{"title":"A qualitative study into the experiences of families affected by developmental disorders seeing the UK NHS Genetics Service; if I had known then what I know now","authors":"Emma Carter,&nbsp;Flora Joseph","doi":"10.1002/jgc4.70063","DOIUrl":"https://doi.org/10.1002/jgc4.70063","url":null,"abstract":"<p>Parents of a child with a developmental disorder (DD) experience significant challenges, such as prognostic uncertainty, lack of care coordination, stigmatization, and changes to social and financial positions. Limited research exists into whether parents' support needs are being met by the United Kingdom National Health Service (UK NHS) Genetics Service. Therefore, this study aimed to establish whether these parents feel adequately supported by the UK NHS Genetics Service and, if not, what further support could be provided. This study recruited participants through the Unique and SWAN UK support groups. Fourteen parents of children with a DD took part in semi-structured interviews. Four overarching themes were identified: Expectations, the impact of the delivery of the diagnosis, uncertainty about who has medical responsibility, and isolation. While some positive experiences were described, parents also revealed expectations of support from the Genetics Service that were not met. These expectations included support with care coordination, a medical professional to take a holistic approach, and being signposted effectively to support networks. The analysis suggests that patient expectations of the Genetics Service need to be managed prior to the first appointment and that parents would benefit from access to a dedicated care coordinator. Furthermore, signposting to support groups is inconsistent. Future research should focus on identifying families most in need of support so that these families can be prioritized for the limited resources and investigate how best to prepare patients for receiving a diagnosis.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70063","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144197160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A landscape assessment of Medicaid recognition for genetic counselors 对遗传咨询师的医疗补助认可的景观评估
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-28 DOI: 10.1002/jgc4.70057
Brian Reys, Alyssa Valentine, Vivian Pan, Delaney Gaston, Mardarius Harper, Maya Brouette, Regina Nuccio
{"title":"A landscape assessment of Medicaid recognition for genetic counselors","authors":"Brian Reys,&nbsp;Alyssa Valentine,&nbsp;Vivian Pan,&nbsp;Delaney Gaston,&nbsp;Mardarius Harper,&nbsp;Maya Brouette,&nbsp;Regina Nuccio","doi":"10.1002/jgc4.70057","DOIUrl":"https://doi.org/10.1002/jgc4.70057","url":null,"abstract":"<p>Payer enrollment for genetic counselors (GCs) is fundamental to long-term field sustainability and patient care access. Until federal recognition is obtained, enhancing Medicaid policies may help address existing GC coverage disparities. Understanding the current landscape is critical to mapping an effective strategy for future advocacy efforts. This study assessed GC provider enrollment and relevant CPT<sup>®</sup> codes across Medicaid programs in the United States via a review of open-access Medicaid websites for 50 US states, Washington, DC, and 5 US territories in 2024. Medicaid fee status for CPT<sup>®</sup> code 96040 (GC only, 30 min) and S0265 (GC with physician supervision, 15 min code), fee schedule dates, availability of GC as a provider enrollment type, and state licensure status were abstracted. Of Medicaid provider enrollment websites for US states and DC, 21.6% (11/51) included genetic counselors; 49% (25/51) listed CPT<sup>®</sup> code 96040 and 13.7% (7/51) listed S0265 in the fee schedule with a non-zero rate; none of the US territories listed either. Of the 34 regions with GC licensure, 32.4% (11/34) included GCs as an enrollment type in their state Medicaid provider website, while none of the 22 unlicensed regions did. This assessment highlights a gap between state licensure efforts and enrollment of GCs by state payers. Advocacy and public health policy directly targeting state Medicaid programs provide another avenue to increase coverage for GC services. A key downstream benefit of GC recognition through these efforts includes expanding access to genetic counseling services for underserved communities.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70057","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144148645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Use of digital health tools with point-of-care testing improves access to germline genetic testing within a gastrointestinal cancer clinic 将数字健康工具与即时检测结合使用,可改善胃肠道癌症诊所的生殖系基因检测
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-26 DOI: 10.1002/jgc4.70047
Catherine Smith, Colleen Caleshu, Danielle Bonadies, Jessica Johnson Denton
{"title":"Use of digital health tools with point-of-care testing improves access to germline genetic testing within a gastrointestinal cancer clinic","authors":"Catherine Smith,&nbsp;Colleen Caleshu,&nbsp;Danielle Bonadies,&nbsp;Jessica Johnson Denton","doi":"10.1002/jgc4.70047","DOIUrl":"https://doi.org/10.1002/jgc4.70047","url":null,"abstract":"<p>Many patients who qualify for cancer germline genetic testing do not get offered such testing. Digital health tools (DHTs) and point-of-care (POC) genetic testing have both shown promise to increase access to cancer genetic testing in certain settings. However, there is scant evidence on the impact of either DHTs or POC in gastrointestinal (GI) cancer clinics or on the combined use of DHTs and POC testing. We aimed to determine whether POC genetic testing with DHTs improves (1) the identification of patients for genetic testing and (2) the uptake of genetic testing within a multidisciplinary GI cancer clinic. A retrospective before-and-after study design was used. Data was collected by chart review. Outcomes were the proportion of patients (1) identified for genetic evaluation and (2) consented to genetic testing. In the before group (<i>n</i> = 24), patients were identified for genetic evaluation by physicians and referred to a genetic counseling clinic for testing. In the after group (<i>n</i> = 32), patients had access to POC genetic testing with support from DHTs. The study cohort (<i>n</i> = 56) was 51.8% female with a mean age of 61.1 years (SD = 12.2) and predominantly White (58.8%) or African American (39.2%). In the before group, 6/24 (25%) patients were identified for genetic evaluation compared to 17/32 (53%) in the after group (<i>p</i> = 0.03). Genetic testing uptake was 0% (0/24) in the before group and 25% (8/32) in the after group (<i>p</i> = 0.02). The use of DHTs and a POC genetic testing model improved the identification of patients for genetic testing. While uptake improved, it remained low, suggesting additional approaches are needed.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70047","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144135814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The future of electronic health record-based research: Leveraging informatics in genetic counseling research 基于电子健康记录研究的未来:利用遗传咨询研究中的信息学
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-25 DOI: 10.1002/jgc4.70058
Samantha E. Greenberg, Brian Reys, Heather Fisher, Mujeeb Basit
{"title":"The future of electronic health record-based research: Leveraging informatics in genetic counseling research","authors":"Samantha E. Greenberg,&nbsp;Brian Reys,&nbsp;Heather Fisher,&nbsp;Mujeeb Basit","doi":"10.1002/jgc4.70058","DOIUrl":"https://doi.org/10.1002/jgc4.70058","url":null,"abstract":"<p>As health care embraces learning health systems, data-oriented approaches provide a path for genetic counselors to actively contribute to improving clinical care through evidence-driven insights. The informatics-driven querying of electronic health record (EHR) data in genetic counseling has the potential to advance clinical practice, quality improvement, and research. This paper examines the opportunities and challenges associated with leveraging EHR data in genetic counseling, with a focus on practical, collaborative, and future-oriented applications. Quality improvement initiatives focused on identifying eligible patients for genetic services, assessing access and uptake patterns, and evaluating genetic testing outcomes serve as a natural gateway to research. Here, we demonstrate how genetic counseling professionals can use EHR data to conduct research that drives impactful changes in patient care and service delivery. By highlighting key applications and identifying areas for future exploration, this paper argues that EHR-based research represents not only a practical solution to current challenges but also the future of genetic counseling inquiry. This approach promises to unlock new opportunities to measure and enhance the effectiveness, equity, and accessibility of genetic counseling services.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70058","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144135642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Leveraging hindsight: A retrospective chart review how-to for genetic counselors 利用后见之明:遗传咨询师的回顾性图表回顾方法
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-23 DOI: 10.1002/jgc4.70043
Andrea Edwards, Sarah Zajonz, Nicole Koziol, Addison Leabo, Laura B. Ramsey
{"title":"Leveraging hindsight: A retrospective chart review how-to for genetic counselors","authors":"Andrea Edwards,&nbsp;Sarah Zajonz,&nbsp;Nicole Koziol,&nbsp;Addison Leabo,&nbsp;Laura B. Ramsey","doi":"10.1002/jgc4.70043","DOIUrl":"https://doi.org/10.1002/jgc4.70043","url":null,"abstract":"<p>Retrospective chart review can be a useful method for a research project in genetic counseling. These projects involve collecting data from routine clinical care, so they come with many benefits and drawbacks. Determining the research question and what data will need to be collected is the first step. Next, gathering the appropriate team to answer the question, discussing individual responsibilities and author order will facilitate the project. The research question must be able to be answered with data collected from routine clinical care, and there must be a sizable population to draw from. Regulatory approval must be obtained, though the regulatory bodies generally consider retrospective chart reviews exempt or expedited, depending on the data collected. There are many data collection tools available, though one must weigh the features and limitations of regulatory compliance as well. We have found it helpful to create a standard operating procedure with detailed notes on where to find the information in the patient's chart, how to interpret the information, and how to enter it into the data collection tool. Training abstractors and cross-checking data are helpful to ensure reproducibility. Once data collection is complete, a data quality check and data cleaning should be performed prior to data analysis. Finally, a manuscript should be prepared with the target journal and audience in mind during writing. Herein we provide lessons learned with a focus on applying these concepts to genetic research.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144118235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patient-reported outcomes for remote and in-person visits for genetic counseling in adult neurology 成人神经病学遗传咨询的远程和面对面访问的患者报告结果
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-23 DOI: 10.1002/jgc4.70040
Rachel A. Paul, Nareen Babaian, Morgan Brzozowski, Aaron Baldwin, Kelsey Johnson, Meron Azage, Tanya Bardakjian, Thomas F. Tropea, Laynie Dratch
{"title":"Patient-reported outcomes for remote and in-person visits for genetic counseling in adult neurology","authors":"Rachel A. Paul,&nbsp;Nareen Babaian,&nbsp;Morgan Brzozowski,&nbsp;Aaron Baldwin,&nbsp;Kelsey Johnson,&nbsp;Meron Azage,&nbsp;Tanya Bardakjian,&nbsp;Thomas F. Tropea,&nbsp;Laynie Dratch","doi":"10.1002/jgc4.70040","DOIUrl":"https://doi.org/10.1002/jgc4.70040","url":null,"abstract":"<p>At our center, we offer clinical genetic counseling (GC) visits for adults with a personal and/or family history of neurologic disease. Here, we report patient experience and outcomes from different visit modalities (e.g., in person, videoconferencing, and telephone) in clinical neurogenetics. Individuals who completed a GC visit in the Neurology Department at the University of Pennsylvania between January 2021 and January 2023 were surveyed after an initial evaluation and/or a disclosure visit. Questionnaires included items validated to measure satisfaction with GC, satisfaction with telehealth, and patient empowerment. Two hundred and ninety-nine individuals submitted 347 survey responses, representing a response rate of 42% (initial) and 31% (disclosure) for each of the surveys. Most responders completed their initial visit in person, while most completed their disclosure visit remotely via videoconferencing or telephone. Patient satisfaction with GC did not differ between visit modalities. For initial visits, telehealth satisfaction was higher for visits regarding the consideration of predictive testing compared to diagnostic testing. For follow-up visits, telehealth satisfaction was higher for videoconferencing compared to telephone disclosure. A majority of responders (69%–78%) reported interest in utilizing telehealth in the future if their genetic counselor thought it was appropriate and a majority of responders (65%–79%) indicated a preference for a combination of in-person and telehealth visits. Individuals who completed an initial visit in person were more likely to decline interest in future telehealth use. This study allowed for some comparison between visit modalities, but more research is needed to understand individuals' preferences and guide recommendations for GC service delivery.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70040","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144126042","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening 从DMD携带者筛查和基于单核苷酸多态性(SNP)的产前无细胞DNA筛查中偶然发现母亲性染色体非整倍体
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-23 DOI: 10.1002/jgc4.70050
Julianna Walker, Jennifer Lemoine, Georgina Goldring, Emily Morton, Elizabeth Repass, Jeffrey Meltzer, J. Bryce Ortiz, Wenbo Xu, Yang Wang
{"title":"Incidental finding of maternal sex chromosome aneuploidy from DMD carrier screening and single-nucleotide polymorphism (SNP)-based prenatal cell-free DNA screening","authors":"Julianna Walker,&nbsp;Jennifer Lemoine,&nbsp;Georgina Goldring,&nbsp;Emily Morton,&nbsp;Elizabeth Repass,&nbsp;Jeffrey Meltzer,&nbsp;J. Bryce Ortiz,&nbsp;Wenbo Xu,&nbsp;Yang Wang","doi":"10.1002/jgc4.70050","DOIUrl":"https://doi.org/10.1002/jgc4.70050","url":null,"abstract":"<p>Prenatal cell-free DNA (cfDNA) screening and carrier screening (CS) may have incidental findings that have implications for maternal health outside the scope of the test. We investigated outcome information for individuals with both a <i>DMD</i> full gene deletion/duplication on CS and a suspected maternal X chromosome abnormality on SNP-based prenatal cfDNA screening. This retrospective analysis included de-identified data from pregnant individuals referred for CS and prenatal cfDNA screening at a single reference laboratory (9/2019–12/2021). Maternal karyotype and/or chromosomal microarray analysis results were requested from referring clinics for individuals with both <i>DMD</i> full gene deletion/duplication on CS and prenatal cfDNA screening results indicating potential maternal X chromosome aneuploidy. Of 333,814 individuals screened, 144 (1 in 2318) met study criteria, and for 84 (58.3%) we obtained information on whether diagnostic testing was received following these results. Of the 84 patients with follow-up information available, 34 (40.5%) received maternal diagnostic testing based on karyotype or chromosomal microarray analysis. At 97% (<i>n</i> = 33), the majority of patients with diagnostic testing had X chromosome aneuploidies, including trisomy X (<i>n</i> = 22, 64.7%), monosomy X mosaicism (<i>n</i> = 8, 24.2%), monosomy X (<i>n</i> = 2, 6.1%), and maternal X chromosome structural abnormality (<i>n</i> = 1, 2.9%). Our study supports a high likelihood of maternal sex chromosome abnormality in the presence of an inconclusive <i>DMD</i> result on CS and prenatal cfDNA screening suspicious for a maternal sex chromosome abnormality. Given the implications for maternal health, follow-up counseling, karyotype, and chromosomal microarray analysis may be recommended.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70050","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144125902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessing perceived empathy based on genetic counselor gender using a randomized, hypothetical prenatal genetic counseling scenario design 使用随机、假设的产前遗传咨询场景设计评估基于遗传咨询师性别的感知共情
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-23 DOI: 10.1002/jgc4.70054
Luis Torres, Clara Lajonchere, Rebecca LeShay Araujo, Carole H. Browner, Christina G. S. Palmer
{"title":"Assessing perceived empathy based on genetic counselor gender using a randomized, hypothetical prenatal genetic counseling scenario design","authors":"Luis Torres,&nbsp;Clara Lajonchere,&nbsp;Rebecca LeShay Araujo,&nbsp;Carole H. Browner,&nbsp;Christina G. S. Palmer","doi":"10.1002/jgc4.70054","DOIUrl":"https://doi.org/10.1002/jgc4.70054","url":null,"abstract":"<p>Males in the genetic counseling field report facing negative perceptions related to their empathic ability. While these experiences have been explored qualitatively from the genetic counselor (GC) perspective, there currently is no research on the counselee or observer perspective of GC empathy as a function of GC gender. Our study aimed to determine whether individuals from the lay population perceive written empathic responses in a genetic counseling text scenario to be less empathetic from a genetic counselor who is written to be a man compared with a woman GC. Using a randomized two-arm trial with parallel groups, 139 participants were recruited from Amazon Mechanical Turk, and 138 were presented with a hypothetical scripted prenatal genetic counseling scenario in written form involving a couple being counseled by either a male GC or female GC. Participants rated GC empathy based on a modified Consultation and Relational Empathy measure. Demographic characteristics and an item asking for the identification of GC gender were collected. Regression analyses were performed to identify whether GC gender and other demographic variables predicted empathy ratings. The primary analysis (<i>N</i> = 138) did not demonstrate a significant difference in empathy ratings based on GC gender. Exploratory analyses of a subsample who accurately recalled GC gender (<i>N</i> = 75) and a subsample re-grouped based on participants' report of GC gender (<i>N</i> = 126) show that the scenario with a scripted male GC received lower average empathy rating than the scenario with a female GC (<i>p</i>'s &lt; 0.05). Furthermore, we demonstrate that participants who reported having prior genetic counseling experience in a non-prenatal setting rate empathy as lower than those with prenatal experience. Overall, exploratory results suggest empathy is perceived by the lay population as different between a male and female GC, even when the content and dialogue of a written counseling scenario are identical. Further research is warranted to investigate GC gender and empathy.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70054","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144125903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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