Journal of Genetic Counseling最新文献

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Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany 确定性需求与众多不确定性之间的紧张关系——一项针对德国潜在基因组新生儿筛查计划的不同观点的焦点小组研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-16 DOI: 10.1002/jgc4.70004
Elena Sophia Doll, Julia Mahal, Karla Alex, Seraina Petra Lerch, Stefan Kölker, Christian P. Schaaf, Eva C. Winkler, Beate Ditzen
{"title":"Tension between the need for certainty and numerous uncertainties—A focus group study on various perspectives on a potential genomic newborn screening program in Germany","authors":"Elena Sophia Doll,&nbsp;Julia Mahal,&nbsp;Karla Alex,&nbsp;Seraina Petra Lerch,&nbsp;Stefan Kölker,&nbsp;Christian P. Schaaf,&nbsp;Eva C. Winkler,&nbsp;Beate Ditzen","doi":"10.1002/jgc4.70004","DOIUrl":"https://doi.org/10.1002/jgc4.70004","url":null,"abstract":"<p>The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges. This study was carried out with a view toward the possible introduction of gNBS in Germany. Due to the existing challenges, it is crucial to understand different perspectives of relevant groups in Germany before implementing gNBS. Four online focus groups were conducted with parents, patient representatives, and healthcare professionals to explore perceived opportunities and challenges, as well as needs regarding a potential gNBS program. Discussions with altogether 24 participants were semi-structured using a pre-defined interview guide. Sessions were audio-visually recorded and transcripts were analyzed using a structuring qualitative content analysis combining both deductive and inductive methods. Participants expressed positive views about gNBS but also reservations about a gNBS program and posed requirements for operating conditions. One salient theme that emerged was hope for certainty through gNBS in the face of numerous uncertainties. The study complements the perspective of patient representatives, providing further insight into the subject matter. This is a valuable contribution as they possess a comprehensive understanding of the medical, psychological, and ethical considerations involved. Patient representatives placed particular emphasis on the advantages of avoiding a diagnostic odyssey and the significance of support systems. The results provide first insights into different views on gNBS in Germany. These views can inform the potential preparation of a gNBS program in Germany, particularly with regard to information and consent requirements. Implications for practice, such as informing and educating parents about gNBS during pregnancy, can be derived from the study.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70004","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144074282","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
Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature 儿科预测测试告知胚胎植入前基因检测:一个病例报告和文献回顾
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-15 DOI: 10.1002/jgc4.70053
Kendra L. Schaa, Renata Thoeny, Rebecca J. Benson, Graeme J. Pitcher, Shelby Romoser, Alpa Sidhu
{"title":"Pediatric predictive testing to inform preimplantation genetic testing: A case report and review of the literature","authors":"Kendra L. Schaa,&nbsp;Renata Thoeny,&nbsp;Rebecca J. Benson,&nbsp;Graeme J. Pitcher,&nbsp;Shelby Romoser,&nbsp;Alpa Sidhu","doi":"10.1002/jgc4.70053","DOIUrl":"https://doi.org/10.1002/jgc4.70053","url":null,"abstract":"<p>Clinical genetic testing is rapidly expanding in reproductive, pediatric, and adult specialties. We report the case of a couple's request for pediatric genetic testing for a familial Lynch syndrome pathogenic variant, with the goal of utilizing this information to perform preimplantation genetic testing (PGT) on cryopreserved embryos. We outline existing professional guidelines related to genetic testing of embryos and minors for adult-onset conditions. By highlighting conflicting perspectives from various interested parties, the significant ethical ambiguity in pediatric predictive genetic testing is underscored. This case exemplifies the value of a multidisciplinary team approach and shared decision-making model to guide parental requests for predictive genetic testing of a minor for the purpose of PGT.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70053","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143950129","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
Genetic health professionals' facilitation of communication between parents and young children about inherited genetic conditions: A scoping review 遗传健康专业人员促进父母和幼儿之间关于遗传条件的沟通:范围审查
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-14 DOI: 10.1002/jgc4.70000
Catarina Seidi, Liliana Sousa, Álvaro Mendes
{"title":"Genetic health professionals' facilitation of communication between parents and young children about inherited genetic conditions: A scoping review","authors":"Catarina Seidi,&nbsp;Liliana Sousa,&nbsp;Álvaro Mendes","doi":"10.1002/jgc4.70000","DOIUrl":"https://doi.org/10.1002/jgc4.70000","url":null,"abstract":"<p>Genetics healthcare professionals (GHPs) play a key role in facilitating the communication from parents to young children about inherited genetic conditions (IGCs). This scoping review aimed to map the existing literature on GHPs' experiences regarding parent-children communication about IGCs. In this context, GHPs include clinicians who have specific genetics training (e.g., genetic counselors, genetic nurses, and clinical geneticists) and clinicians who have experience with caring for families with IGCs (e.g., other medical doctors and nurses). Four electronic databases were searched (PsycInfo, Scopus, PubMed, and all the Web of Science Core Collection databases), from which five eligible studies were identified. Studies were eligible if they focused on GHPs' perspectives on parent-children communication about IGCs. Included studies were published between 2010 and 2020. Main findings suggest that (i) there is a scarcity of literature exploring GHPs' experiences; (ii) GHPs feel a sense of responsibility in facilitating communication between parents and children regarding IGCs; (iii) GHPs commonly assess family dynamics and utilize educational resources to support parent–children communication; and (iv) GHPs recognize the need for additional training to better support parents in communicating with their children about IGCs, with genetic counselors reporting more extensive preparation in this area. Further research is needed to gain a deeper understanding of the roles and skills required of GHPs to facilitate effective communication between parents and their young children about IGCs. To better support parents in discussing IGCs with their children, GHPs would benefit from additional training in specific counseling skills, family dynamics, and communication, with an even greater need expressed by those who are not genetic counselors.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70000","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143949993","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
Counseling supervision for genetic counselors: A proposed outsider witness structure 遗传咨询师的咨询监督:建议的局外人证人结构
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-14 DOI: 10.1002/jgc4.70056
Mariangels Ferrer-Duch, Fiona Ulph, Elisabet Dachs Cabanas, Glenda Fredman, Rhona MacLeod
{"title":"Counseling supervision for genetic counselors: A proposed outsider witness structure","authors":"Mariangels Ferrer-Duch,&nbsp;Fiona Ulph,&nbsp;Elisabet Dachs Cabanas,&nbsp;Glenda Fredman,&nbsp;Rhona MacLeod","doi":"10.1002/jgc4.70056","DOIUrl":"https://doi.org/10.1002/jgc4.70056","url":null,"abstract":"<p>Counseling supervision for genetic counselors is recognized as an important aspect of professional registration. Professional bodies in countries, including the United States, Australia, and the United Kingdom, have published recommendations for the delivery of counseling supervision covering such things as access and frequency of delivery. Yet, there has been little written about the theoretical frameworks underpinning counseling supervision or how these have been applied within this setting. We present a structure for group counseling supervision for genetic counselors (GCs), informed by narrative therapy, and suggest how it can be adapted for online delivery. The format of the group session is detailed to allow for the outsider witness approach to supervision to be replicated in other genetic centers. We wish to encourage more research in this area to explore models of supervision, including involvement of counseling supervisors trained in strength-based approaches such as narrative and compassion-focused therapy. These types of counseling approaches to supervision may be beneficial for sustaining staff morale and team working, particularly important at a time when demands on genetic services are increasing. Effective models of counseling supervision will help to sustain the work of genetic counselors, which in turn will benefit patients and their families.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70056","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143950053","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
Factors affecting the implementation of cascade testing of patients with BRCA1 or BRCA2 pathogenic germline variants in Japan
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-13 DOI: 10.1002/jgc4.70055
Yoshimi Kiyozumi, Seiichiro Nishimura, Nobuhiro Kado, Satomi Higashigawa, Yasue Horiuchi, Eiko Ishihara, Rina Harada, Hiroyuki Matsubayashi
{"title":"Factors affecting the implementation of cascade testing of patients with BRCA1 or BRCA2 pathogenic germline variants in Japan","authors":"Yoshimi Kiyozumi,&nbsp;Seiichiro Nishimura,&nbsp;Nobuhiro Kado,&nbsp;Satomi Higashigawa,&nbsp;Yasue Horiuchi,&nbsp;Eiko Ishihara,&nbsp;Rina Harada,&nbsp;Hiroyuki Matsubayashi","doi":"10.1002/jgc4.70055","DOIUrl":"https://doi.org/10.1002/jgc4.70055","url":null,"abstract":"<p>In clinical management for hereditary cancer patients, risk assessment is needed not only for patients but also for their blood relatives. In people with Hereditary Breast and Ovarian Cancer syndrome (HBOC), benefits are demonstrated by identifying relatives with <i>BRCA1</i> and <i>BRCA2</i> pathogenic germline variants (PGV) and implementing clinical surveillance and risk-reduction surgeries for the at-risk organs. To date, the uptake of cascade testing has been reported to be insufficient, but only a limited number of studies have analyzed the barriers to cascade testing. The current study aimed to analyze the uptake of cascade testing in the relatives of Japanese HBOC probands and clarify the factors that promote cascade testing uptake. This retrospective study included 125 probands carrying <i>BRCA1</i> or <i>BRCA2</i> PGV and 425 of their first-degree relatives (FDRs). Individual clinicodemographic data were collected from medical records, and comparisons were made between those who did and did not undergo cascade testing. Ninety-two (21.6%) FDRs of HBOC probands underwent cascade testing. Approximately 70% of the relatives underwent testing within 6 months of the proband's genetic testing. Independent predictors of cascade testing of 425 FDRs were: being present at the proband's genetic counseling session [odds ratio (OR): 8.3, 95% CI 4.2–16.1], cost-free testing (OR: 2.4, 95% CI 1.4–4.2), being the child of a proband (OR: 1.9, 95% CI 1.1–3.2), and female sex (OR: 1.8, 95% CI 1.0–3.0). The cascade testing uptake rate of FDRs in this study was similar to or lower than other countries. cascade testing uptake can be improved in HBOC families by encouraging relatives (children, siblings, and parents) to attend genetic counseling with the proband. Further prospective studies are needed to pursue the reasons for accepting cascade testing, including an evaluation of intrafamily communication processes.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70055","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143944892","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
Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-13 DOI: 10.1002/jgc4.70052
Mikaela Bradley, Ashley Cannon, Bryce Brown, Kelly Taylor, Paul Moots, Emily McQuillen
{"title":"Family history does not influence stress or major coping styles in adults with neurofibromatosis type 1","authors":"Mikaela Bradley,&nbsp;Ashley Cannon,&nbsp;Bryce Brown,&nbsp;Kelly Taylor,&nbsp;Paul Moots,&nbsp;Emily McQuillen","doi":"10.1002/jgc4.70052","DOIUrl":"https://doi.org/10.1002/jgc4.70052","url":null,"abstract":"<p>Neurofibromatosis type 1 (NF1) is a genetic condition that affects about 1 in 3000 individuals. Approximately 50% of individuals with NF1 have a family history of the condition. Individuals with NF1 experience variable symptoms that contribute to increased stress. This study investigated whether a family history of NF1 influences levels of stress and coping strategies in adults with NF1. Adults with NF1 who live in the United States and speak English were recruited through the Children's Tumor Foundation's (CTF) NF Registry, CTF's NF Clinic Network, and the Neurofibromatosis Network. Participants completed a survey about their personal and family history of NF1, the Perceived Stress Scale 10-Item Version (PSS-10), the Brief Coping Orientation to Problems Experienced Inventory (Brief-COPE), short response questions, and demographics. Overall, 547 of 646 responses met analysis criteria. Participants with affected parents were assigned to the inherited NF1 group (<i>n</i> = 222) and those with unaffected parents were assigned to the sporadic NF1 group (<i>n</i> = 325). No differences were found in mean PSS-10 scores between the two study groups (<i>p</i> = 0.568). Females had significantly higher PSS-10 scores than males (<i>p</i> &lt; 0.001). After Bonferroni correction, no differences were found across Brief-COPE subscales or major coping styles between the two groups. A stagewise multivariable regression indicated that 42% of the variance in PSS-10 scores was accounted for by sex assigned at birth, age, problem-focused, and avoidant coping styles (<i>R</i><sup>2</sup> = 0.42, <i>p</i> &lt; 0.001). Family history did not predict PSS-10 scores alone or as an interaction variable with major coping styles. This study showed no significant differences in stress or major coping styles between adults with inherited versus sporadic NF1. However, other factors may influence the stress and coping experiences of adults with NF1. Fostering discussions about patients' stressors and coping strategies could help promote stress management.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70052","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143944891","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
Navigating the impact of the 21st-Century Cures Act Final Rule: A national cross-sectional survey of US genetic counselors 导航21世纪治愈法案最终规则的影响:美国遗传咨询师的全国横断面调查
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-12 DOI: 10.1002/jgc4.70005
Chenery Lowe, Laura Duncan, Victoria Morris, Katherine Anderson, Laynie Dratch, Debra J. H. Mathews
{"title":"Navigating the impact of the 21st-Century Cures Act Final Rule: A national cross-sectional survey of US genetic counselors","authors":"Chenery Lowe,&nbsp;Laura Duncan,&nbsp;Victoria Morris,&nbsp;Katherine Anderson,&nbsp;Laynie Dratch,&nbsp;Debra J. H. Mathews","doi":"10.1002/jgc4.70005","DOIUrl":"https://doi.org/10.1002/jgc4.70005","url":null,"abstract":"<p>The 21st Century Cures Act Final Rule (Final Rule) increases patient access to their health records but raises concerns about distress and misunderstanding of automatically released results and documentation. Little is known about genetic counselors' (GCs') experiences with the Final Rule. In Fall 2023, we conducted a cross-sectional survey of US GCs about the Final Rule's perceived impact on practice and assessed if being the ordering versus non-ordering provider for genetic testing affected perceptions of Final Rule-related changes. GCs (<i>n</i> = 102) reported demographic and workplace characteristics, institutional policy changes, workflow changes, and perceived patient harms and benefits due to the Final Rule. To compare ordering and non-ordering providers, we conducted Fisher's exact tests for categorical variables and trend tests for ordinal variables. Open-response questions elicited examples of positive and negative patient impacts, the effects of patient characteristics, and practice changes in response to the Final Rule. Twenty-seven GCs were ordering providers and 66 were non-ordering providers. Relative to ordering providers, non-ordering providers expressed stronger agreement with statements indicating concern about the emotional impact on patients reviewing results or notes without support (<i>p</i> = 0.002, 33% vs. 51% strongly agree), patients misunderstanding or misinterpreting results (<i>p</i> = 0.025, 44% vs. 70% strongly agree), and patients contacting the inappropriate party to discuss results (<i>p</i> = 0.023, 19% vs. 48% strongly agree). Agreement with the statement “patients have more knowledge/context/questions at our disclosure session due to previous results review” also differed by ordering provider status (<i>p</i> = 0.007). In open responses, GCs expressed concerns about patients' strong emotional reactions, patients misinterpreting results, workflow disruptions, and widening health disparities. Benefits included patients' ability to be reassured, informed, or empowered earlier; ease of sharing health information; more efficient workflow due to the automatic release of results. These results emphasize the importance of clear communication within health systems and between patients and providers.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70005","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143938759","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 case for integrating genetic counselors into primary care: A paradigm shift for our profession 将遗传咨询师纳入初级保健的案例:我们职业的范式转变
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-11 DOI: 10.1002/jgc4.70051
Vivian Pan, Natasha Berman, Sasha Bauer, Megan Bell, Kennedy Borle, Prescilla Carrion, Mylynda Massart, Christine Munro, Jehannine (J9) Austin
{"title":"The case for integrating genetic counselors into primary care: A paradigm shift for our profession","authors":"Vivian Pan,&nbsp;Natasha Berman,&nbsp;Sasha Bauer,&nbsp;Megan Bell,&nbsp;Kennedy Borle,&nbsp;Prescilla Carrion,&nbsp;Mylynda Massart,&nbsp;Christine Munro,&nbsp;Jehannine (J9) Austin","doi":"10.1002/jgc4.70051","DOIUrl":"https://doi.org/10.1002/jgc4.70051","url":null,"abstract":"<p>The integration of genetic counselors (GCs) into primary care represents an opportunity for a transformative shift in healthcare delivery, bridging the gap between the historical medical genetics delivery model and the increasing need for genetic services. This paradigm aligns the holistic ethos of primary care with the specialized expertise of genetic counseling and frontline access to preventive care, addressing critical barriers in genetic services. Current genetic service delivery models, concentrated in tertiary care settings, face limitations, including access disparities, fragmented care, and inefficiencies that disproportionately affect underserved populations. Embedding GCs within primary care leverages GCs' unique skills to enhance personalized healthcare delivery, improve risk assessment, and facilitate the implementation of precision medicine. GCs in primary care can streamline referrals, manage routine genetic concerns, and provide genetic continuity of care across the patient's lifespan. This integration ensures that genetic insights are contextualized within patients' day-to-day healthcare, fostering equitable and efficient access to genomic medicine. We explore the potential impact of primary care genetic counselors (PCGCs) on healthcare systems, emphasizing the alignment of their scope of practice with primary care principles such as accessibility, comprehensiveness, and continuity. By addressing evolving patient needs and collaborating with primary care teams, PCGCs can increase patient access, reduce system inefficiencies, alleviate pressures on specialty genetics services, and improve health equity. This paper advocates for a collaborative model where GCs are embedded within primary care, enabling proactive, prevention-focused interventions and enhancing patient outcomes. By integrating genetics into primary care settings, we reimagine genetic healthcare delivery to maximize the benefits of genomic medicine for all individuals. This paradigm shift underscores the urgency of addressing systemic barriers and advancing the role of GCs in healthcare to improve patient and clinician experiences, better population health, and achieve greater health equity.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932289","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
Survey research in genetic counseling 遗传咨询的调查研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-11 DOI: 10.1002/jgc4.70049
Melanie F. Myers, Carrie L. Atzinger
{"title":"Survey research in genetic counseling","authors":"Melanie F. Myers,&nbsp;Carrie L. Atzinger","doi":"10.1002/jgc4.70049","DOIUrl":"https://doi.org/10.1002/jgc4.70049","url":null,"abstract":"<p>Questionnaires are one of the most common tools for collecting data in genetic counseling research and practice. In this manuscript, we present an overview of survey methods in the context of genetic counseling research. Approaches for administering surveys, designing good questions, and identifying study samples are addressed. We also discuss rigorous approaches for designing, validating, and implementing questionnaires that are inclusive and reliable. The information and considerations in this manuscript will empower researchers to develop, pretest, validate, and implement surveys in diverse settings and enhance the rigor of genetic counseling research.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70049","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143932288","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 scoping review of the development of genetic counseling practices in Asia 亚洲遗传咨询实践发展的范围审查
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2025-05-07 DOI: 10.1002/jgc4.70036
Tiffany Qing Lim, Lisa Dive, Alison McEwen
{"title":"A scoping review of the development of genetic counseling practices in Asia","authors":"Tiffany Qing Lim,&nbsp;Lisa Dive,&nbsp;Alison McEwen","doi":"10.1002/jgc4.70036","DOIUrl":"https://doi.org/10.1002/jgc4.70036","url":null,"abstract":"<p>Access to genetic and genomic healthcare is rapidly expanding globally, contributing to the emergence of genetic counseling practice in various parts of Asia. This scoping review maps the current genetic counseling practices in Asia and the challenges faced by these countries in establishing genetic counseling services. The review was informed by the Joanna Briggs Institute methodology, and five databases were systematically searched. Forty-one unique papers were identified. The data was charted to summarize all available evidence regarding the status of current practices in Asia, which include the composition of the local workforce, their scope of practice, and the problems encountered by countries when instituting genetic counseling practices. Our results indicate countries are at varying stages of establishing practices and experience a host of interdependent challenges that impede the effective provision of services. Challenges include a lack of funding and legislation by governments, a cadre of genetically trained professionals with limited scope of practice, a population with low genomic literacy, coupled with varying language, cultural, and religious practices that influence genetic counseling practices. The findings call for Asian countries to adopt a multi-faceted approach that collectively engages various collaborators, including government and the healthcare workforce, to tackle existing barriers hindering the development of genetic counseling practices locally. Establishing ongoing dialogue between countries could help institute novel solutions to developing genetic counseling services in each country to enhance the advancement of genomic medicine in the region.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70036","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143914141","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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