Journal of Genetic Counseling最新文献

{"title":"A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?","authors":"Camille Verebi,&nbsp;Victor Gravrand,&nbsp;Thierry Bienvenu,&nbsp;France Leturcq,&nbsp;Juliette Nectoux","doi":"10.1002/jgc4.1932","DOIUrl":"10.1002/jgc4.1932","url":null,"abstract":"<p>Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common inherited neuromuscular diseases. Following the identification of a pathogenic causative variant in the <i>DMD</i> gene of a proband, potential carriers can be informed of their risk of having offspring with the disease. Germline mosaicism is a variant that is confined to the gonads that can be transmitted to offspring and is usually reported when a non-carrier of a <i>DMD</i> pathogenic variant has two or more offspring carrying the variant in question. On average, one third of cases are the result of a de novo variant, and as DMD and BMD are prone to germline mosaicism, its inclusion in genetic counseling is mandatory. In this retrospective cohort study, we presented clinical data from an unpublished DMD/BMD cohort of 332 families with incidence of germline mosaicism in families with de novo transmission of 8.1%. This is also the first systematic literature review searching PubMed to provide an accurate assessment of the current literature on germline mosaicism in DMD and BMD, including 17 case reports and 20 original studies. The incidence of documented germline mosaicism in de novo event families ranged from 6.0 to 40%, with a mean of 8.3%. The estimated recurrence risk for mothers of a patient with a proven de novo causal variant ranged from 4.3 to 11%, with a mean of 5.8% for a male fetus. By providing an up-to-date and comprehensive overview of the literature, this review aims to improve our understanding of germline mosaicism in DMD and to promote the development of effective strategies and reliable data for occurrence risk assessment in genetic counseling of de novo event families.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735244/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421844","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 Manchester Scoring System for predicting BRCA1/2 mutations underperforms in Arabic Omani breast cancer patients","authors":"Chantel van Wyk,&nbsp;Hasan Al-Sayegh,&nbsp;Sara I. Al-Kiyumi,&nbsp;Ghaida S. Al-Mamari,&nbsp;Abeer A. Al Saegh","doi":"10.1002/jgc4.1939","DOIUrl":"10.1002/jgc4.1939","url":null,"abstract":"<p>Risk assessment models that are applied to assess the lifetime risk of cancer and pathogenic variant risk are more commonly used in Western populations. Using these models, without validation, for non-Western populations has been questioned. This study aimed to evaluate the use and consistency of the Manchester Scoring System as a risk assessment model for the Omani population. A retrospective, file-based analysis was performed on breast cancer patients seen in a genomics department over a two-year period. Personal cancer history and family history were used to analyze the Manchester scores of 409 breast and/or cancer patients. The results show that, overall, the Manchester scores were low. If this risk assessment model had been used to determine eligibility for a priori service and genetic testing decisions, 12 <i>BRCA</i> pathogenic cases would have been missed. At this time, the Manchester Scoring System does not seem to be the best risk assessment model for use in the Omani population, unless the eligibility threshold of ≥6 is used, which could provide a better sensitivity for the Omani population. We propose using concepts of the Manchester Scoring model to create a scoring system that is more suitable for the Omani and Arabic population.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1939","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141421845","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 LGBTQIA+ competencies for genetic counseling student training","authors":"Grace Saunders,&nbsp;Erin Carmany,&nbsp;Angela Trepanier","doi":"10.1002/jgc4.1909","DOIUrl":"10.1002/jgc4.1909","url":null,"abstract":"<p>The LGBTQIA⁺ community faces considerable health disparities. Developing and integrating LGBTQIA⁺ competencies into healthcare provider training programs is one way to promote inclusive high-quality care to potentially improve this community's health. Currently, there are no established LGBTQIA⁺-specific competencies for genetic counseling graduate programs (GCPs), so training across GCPs likely varies. This qualitative focus group-based study aimed to explore current topics related to genetic counseling (GC) for LGBTQIA⁺ patients covered in North American GCPs, their learning objectives, and LGBTQIA⁺-specific competencies that GC students (GCSs) should achieve by graduation. Eligible participants were program leaders at ACGC-accredited GCPs and/or faculty who taught LGBTQIA⁺-related content in at least one GCP over the last 5 years. A semistructured interview guide was used to conduct virtual focus groups that were recorded and transcribed. Transcripts were analyzed using reflexive thematic analysis and an inductive iterative approach that generated themes regarding what content is taught and what knowledge, attitudes, and skills GCSs should demonstrate as a result. Thirteen people participated, including nine LGBTQIA⁺ people. They represented 12 GCPs (22% of current GCPs) across the United States and Canada. Focus groups ran 73–90 min. Transcript analysis identified six themes, framed as learning objectives (LOs), and 24 subobjectives. These included recognizing the breadth of the LGBTQIA⁺ community and their lived experience with the healthcare system, demonstrating respect for and responding to patient identities to provide inclusive GC, employing strategies to mitigate social aspects that influence health care, and assessing personal biases and the impact of socialization. Participants used several teaching methods including didactic lectures, simulation, written activities, reflections, and fieldwork experiences. The six identified LOs may be a starting point for GCPs looking to develop or refine their LGBTQIA⁺ curricula. Competency-based education may enhance GCSs' abilities to provide inclusive GC to the LGBTQIA⁺ community.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1909","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141319041","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 counselors' professional identity in North America: A scoping review","authors":"Kaye Stenberg,&nbsp;Rachel Mills,&nbsp;Isha Kalia,&nbsp;Lisa Schwartz","doi":"10.1002/jgc4.1931","DOIUrl":"10.1002/jgc4.1931","url":null,"abstract":"<p>Professional identity (PI) comprises attributes, beliefs, values, motives, and experiences by which people define themselves in a professional role and evolves through socialization with others in the workplace. While there have been several studies exploring the expanding roles of genetic counselors, few have specifically addressed PI. This scoping review aimed to describe the contexts in which PI has been discussed or examined in the genetic counseling literature. Articles were searched using PubMed, Scopus, and CINAHL with a priori terms including and related to PI. Articles based in the United States or Canada and of all study designs, commentaries, and speeches were included. Date of publication was not restricted. Using social identity theory (SIT) to formulate a definition of PI, multiple reviewers applied inclusion and exclusion criteria to all titles, abstracts, and full-text articles with conflicts addressed through consensus among all reviewers. A total of 5523 titles and/or abstracts were screened, and 467 full-text articles were evaluated and categorized as (1) focusing on PI specifically, (2) containing elements of PI although focused on another topic, or (3) not related to PI. Eighty-seven (87) articles were reviewed during the extraction phase. Ultimately, 41 articles were deemed to meet the agreed upon characteristics of PI. While empirical studies of PI among genetic counselors were limited, PI is being addressed in research focused on related areas, including professional development and diversity, equity, and inclusion, as well as in personal accounts, addresses, and commentaries. Sentiments regarding PI voiced by genetic counselors align with those reported among other health professionals. Given the lack of diversity in the field and rapidly expanding opportunities for genetic counselors, there is risk of some members of the profession feeling excluded, which in turn could negatively impact the collective identity of the profession and translate into impacts on patient care. Additional research regarding the PI of genetic counselors is needed.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735250/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141302128","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":"Defining “genetic counseling research”","authors":"Jehannine Austin","doi":"10.1002/jgc4.1936","DOIUrl":"10.1002/jgc4.1936","url":null,"abstract":"","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"33 3","pages":"476-480"},"PeriodicalIF":1.9,"publicationDate":"2024-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297352","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":"Host perspectives on international fieldwork placements for U.S.-based genetic counseling students","authors":"Smita K. Rao,&nbsp;Harrison Moore,&nbsp;Noelle R. Danylchuk,&nbsp;Lori Williamson","doi":"10.1002/jgc4.1930","DOIUrl":"10.1002/jgc4.1930","url":null,"abstract":"<p>Genetic counseling students from the United States are often interested in international summer fieldwork placements, but little is known about the hosts' perspectives when considering such requests. We sent out surveys to 132 international genetics providers (genetics clinics and genetics programs), to identify advantages, barriers and expectations for U.S.-based genetic counseling students seeking a fieldwork placement. Twenty-seven (20.4% response rate) participants from 14 different countries shared their experiences and views. Providers placed higher emphasis on teaching and benefits to students (95.2%) rather than intrinsic benefits to their programs (90.4%). Lack of American Board of Genetic Counseling's (ABGC) reciprocal recognition (30%) and cost of training (25%), were rated as the strongest barriers to hosting U.S.-based students. Surprisingly, ‘Language Barrier’ (20%), although mentioned in open-ended comments, was not ranked highly as a barrier. When asked about expectations of students, active participation in student-led counseling sessions under supervision was encouraged by a majority of participants (55.6%). Where most genetic counseling literature is U.S.-centric, this study reports on insights gathered from international genetics providers. Our study encourages U.S.-based programs to consider these findings when designing exchange programs and international fieldwork placements.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1930","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297308","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' practice of discussing clinical trials with patients","authors":"Thea Bloom,&nbsp;Katherine E. Bonini,&nbsp;Melissa Gutierrez-Kapheim,&nbsp;Lisa M. Kinsley,&nbsp;Maureen E. Smith,&nbsp;Debra Duquette","doi":"10.1002/jgc4.1934","DOIUrl":"10.1002/jgc4.1934","url":null,"abstract":"<p>Despite concerted and accelerated efforts to increase the knowledge of medicine and disease via clinical studies, clinical trials continue to face low enrollment for all patient groups. The dissemination of the availability of clinical trials to individuals with or at risk for hereditary disorders is critical. This study acts as a foundation in determining an unexplored role of clinical trial discussion in genetic counseling practice. Board-certified, patient-facing genetic counselors in the United States were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Between February and April 2022, 157 participants (<i>N</i> = 157) completed the survey on clinical trial discussion with patients, barriers, and facilitators to discussing clinical trials with patients, research experience, and demographics. Survey results identified that most respondents have discussed the availability of clinical trials with a patient (85%). Almost one-third have previous research experience working for a clinical trial (30%). Most agreed that discussions of clinical trials are within the scope of genetic counseling (82%); however, one-third were not comfortable discussing them with patients (34%). Respondents who know how to find specific clinical trials (<i>p</i> &lt; 0.001) were reportedly more likely to be comfortable discussing clinical trials with their patients. In addition to clinical research exposure, this study suggests that further education and training is necessary for genetic counselors to learn how to find and identify specific clinical trials for their patients. In turn, we hope for this to increase genetic counselors' comfort of clinical trial discussion.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1934","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297307","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 pilot randomized controlled study to determine the effectiveness of video educational tool in BRCA1/2 pre-test counseling for Japanese breast cancer patients","authors":"Haruna Nakamura,&nbsp;Shoko Morinaga,&nbsp;Kazuhiko Tsuchiya,&nbsp;Yoko Sakoda,&nbsp;Mitsutoshi Ogino,&nbsp;Sayaka Ueno,&nbsp;Hirokazu Tanino,&nbsp;Tomonari Kunihisa","doi":"10.1002/jgc4.1928","DOIUrl":"10.1002/jgc4.1928","url":null,"abstract":"<p><i>BRCA1/2</i> genetic testing has become clinically important in breast cancer care, but increasing demand may put a burden on the shortage of healthcare professionals. We performed a single-center, pilot randomized controlled study to assess the effectiveness of employing a video educational tool that included standard pre-test genetic counseling elements related to <i>BRCA1/2</i>. Patients with operable breast cancer who met the criteria for genetic testing based on age, sex, subtype, and family history were recruited. Sixty consenting participants were randomized 1:1 and placed in groups that received either traditional face-to-face pre-test counseling or video-viewing and face-to-face decisional support. To assess decisional conflict in the participants, surveys based on the Decisional Conflict Scale (DCS) were administered two times, once immediately after intervention and again 2–4 weeks later. The time taken for counseling and confirmation of whether the participants had undergone testing were also recorded. The difference in the total DCS scores between the two groups was not significantly different for either of the survey periods, and there was no significant difference in the number of participants who underwent testing (23/30 [76.7%] vs. 26/30 [86.7%]; <i>p</i> = 0.51). However, the “effective decision” subscale score was significantly higher in the video group 2–4 weeks after counseling (31.01 ± 16.82 vs. 21.43 ± 16.09; <i>p</i> = 0.04 [mean ± SD]). The time taken for counseling was significantly shorter in the video group (8.00 ± 4.5 vs. 27.00 ± 7.61 min; <i>p</i> &lt; 0.001 [median ± SD]). Our findings indicate the potential benefit of the video educational tool for providing <i>BRCA1/2</i>-related information. These tools may also enable healthcare professionals to spend more time supporting psychological issues. Notably, after some time, patients may question whether their decision was appropriate. Therefore, it is necessary to identify those in conflict and provide them with proper support.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1928","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297351","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":"Development and verification of the Korean version of the genetic counseling self-efficacy scale","authors":"Sunhee Tak,&nbsp;Beom Hee Lee,&nbsp;In Hee Choi","doi":"10.1002/jgc4.1933","DOIUrl":"10.1002/jgc4.1933","url":null,"abstract":"<p>A self-reported Genetic Counseling Self-Efficacy Scale (GCSES) was developed in English to measure genetic counselors' self-efficacy, a factor known to affect their job performance. This study verified the reliability and validity of the GCSES for use in Korea. The scale was translated and back-translated into Korean for cultural fit verification. Expert analysis was performed to ensure content validity. For construct validity, a confirmatory factor analysis of the six-factor structures of the GCSES and an exploratory factor analysis (EFA) of the K-GCSES were conducted. To confirm the convergent validity and discriminant validity of the items, a multitrait/multi-item matrix analysis of the relationship between items and subscales was conducted. The reliability was evaluated by examining internal consistency and test–retest reliability. A total of 62 participants were recruited from certified genetic counselors associated with the Korean Society of Medical Genetics and Genomics and from four graduate schools offering genetic counseling programs. Confirmatory factor analysis showed an inadequate fit to the original GCSES structure. Through EFA, three-factor structures were identified: “counseling competence and psychosocial skills,” “genetic testing,” and “information gathering.” Of the original 38 GCSES items, five were removed due to low factor loadings and small inter-item correlations. The item convergent validity and discriminant validity of the Korean version of the GCSES were established, and the correlation between the subfactors showed statistical significance (0.711–0.983). Cronbach's alpha was 0.985, and the intraclass correlation coefficient ranged from 0.882 to 0.897, securing reliability. The K-GCSES has a three-factor structure with acceptable reliability and sufficient validity. Differences in the factor structure between the K-GCSES and GCSES may be due to cultural factors. K-GCSES can be used as a tool to evaluate the competence of genetic counselors and genetic counseling students in Korea and to improve the quality of professionalism and education.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11735248/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285450","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 study of Black breast cancer previvors' and survivors' experiences after positive genetic testing","authors":"Malika Sud,&nbsp;Erika Stallings,&nbsp;Catharine Wang,&nbsp;Lillian T. Sosa","doi":"10.1002/jgc4.1929","DOIUrl":"10.1002/jgc4.1929","url":null,"abstract":"<p>Black women have a disproportionately high mortality rate from breast cancer, which is likely influenced by an intersection of environmental, cultural, economic, and social factors. Few published studies capture the experiences of Black women after a genetic diagnosis associated with increased risk for breast cancer. This study aims to explore the perspectives and experiences of Black women who carry a pathogenic variant associated with increased breast cancer risk and identify barriers to care for this population. We conducted semi-structured interviews with 16 participants with and without histories of breast cancer. The sample included representation across a range of demographic groups (e.g., income level, employment status, insurance status, and education level). Reflexive thematic analysis was the methodology used to analyze data. Five major themes emerged from participants' descriptions of their experiences during and after genetic testing: (1) searching for representation; (2) information enabling agency; (3) healthcare providers as facilitators or barriers to care; (4) self-identity impacting disclosure; and (5) evolving mental health and coping strategies. Participants identified barriers to care including challenging or misinformed healthcare providers, medical racism, and a lack of Black representation in the cancer community. This work deepens our understanding of the nuanced experiences of Black women across the continuum of cancer care, illustrates unmet needs, and provides a foundation for future research that includes the perspectives of Black women.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1929","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141285449","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}