Journal of Community Genetics最新文献

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Current landscape of clinical genetics knowledge and attitudes among Non-Geneticist Physicians - the McGill genetics education survey (McGES). 临床遗传学知识和态度的当前景观在非遗传学家医生-麦吉尔遗传学教育调查(McGES)。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 DOI: 10.1007/s12687-025-00831-1
Sarah Abdullah-Maklan, Yannis Trakadis
{"title":"Current landscape of clinical genetics knowledge and attitudes among Non-Geneticist Physicians - the McGill genetics education survey (McGES).","authors":"Sarah Abdullah-Maklan, Yannis Trakadis","doi":"10.1007/s12687-025-00831-1","DOIUrl":"https://doi.org/10.1007/s12687-025-00831-1","url":null,"abstract":"<p><p>Medical genetics is a rapidly expanding field, and the role of non-geneticist physicians is becoming increasingly important. Our study aimed to understand the attitudes of non-geneticist physicians on implementing clinical genetics in their practice, as well as the knowledge gaps and other barriers that they face.Our survey consisted of an instructive quiz targeting non-geneticists in North America. Previous studies have focused primarily on general practitioners, but we additionally targeted pediatricians, OBGYNs, internists, neurologists, psychiatrists and oncologists.Most participants (73%) were interested in implementing clinical genetics in their practice, although their confidence in doing so was significantly lower than their reported interest (p < 0.001). 63% of our participants wanted additional education prior to mainstreaming, and 37% wanted more collaboration with clinical geneticists. Knowing when to refer a patient to genetics, being able to consent patients for genetic testing, and understanding genetic test results were areas of interest for our participants. Physicians who had sent more than 10 referrals to genetics in the past 24 months scored 12.5% higher in the knowledge questions than participants who had not sent any genetic referrals (p < 0.001). Family doctors had low scores on questions pertaining to first-line genetic tests, and also had the lowest referral rate to genetics (p < 0.001).This study illustrates how our survey can be used as an educational tool for non-geneticists. Moreover, we propose several ways to bridge the knowledge and confidence gaps identified in our study to support non-geneticist physicians in providing clinical genetics care to their patients.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic renaissance: a cross-regional analysis of the approval landscape of authorised gene therapeutics in paediatrics, challenges and future prospects. 基因复兴:对儿科基因疗法批准前景的跨区域分析,挑战和未来前景。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-21 DOI: 10.1007/s12687-025-00799-y
Aftab Ahmad, Simran Simran, Vaishnavi Milind Kalokhe, Fathima Musthafa, Vishal Sachin Gangawane, Khushboo Khivaram Choudhary, Rajeev Singh Raghuvanshi, Saurabh Srivastava
{"title":"Genetic renaissance: a cross-regional analysis of the approval landscape of authorised gene therapeutics in paediatrics, challenges and future prospects.","authors":"Aftab Ahmad, Simran Simran, Vaishnavi Milind Kalokhe, Fathima Musthafa, Vishal Sachin Gangawane, Khushboo Khivaram Choudhary, Rajeev Singh Raghuvanshi, Saurabh Srivastava","doi":"10.1007/s12687-025-00799-y","DOIUrl":"10.1007/s12687-025-00799-y","url":null,"abstract":"<p><p>Gene therapies are proven to be a milestone in the treatment of genetic disorders, especially in children who bear a disproportionately high burden of rare and hereditary diseases. Clinical evaluation of gene therapy (GT) in paediatrics is a significant challenge for every regulatory body. This study examined the available data on GT products that have been authorised for use by children in Japan, Europe, and the United States. We systematically analysed publicly available regulatory databases from USFDA, EMA, and PMDA to track GT approvals. Therapies were categorized based on their intended patient population (adults, paediatrics, or both), approval trends, and regulatory designations such as Orphan Drug Designation (ODD), Fast Track Designation (FTD), Breakthrough Therapy Designation (BTD), and Rare Paediatric Disease Designation (RPDD). As of April 2024, a total of 75 GTs were approved across these three regions for adults, paediatrics, and both populations combined. 37 in the US, 18 in Europe, and 20 in Japan. Among them, 41 were for adults, 13 for paediatrics, and 21 for both age groups. Of the 13 paediatric approvals the USFDA leads in paediatric GT approvals with 7 therapies, followed by the EMA with 5 (of which 2 were later withdrawn due to commercial reasons), and the PMDA with 1 therapy. Gene therapies hold immense promise for paediatric patients, offering life-changing treatments where few or no options exist. However, high costs, complex clinical trial requirements, and long-term safety concerns continue to limit their widespread adoption. This study underscores the urgent need for global regulatory harmonization and policy initiatives to improve access to paediatric GTs. While regulatory frameworks have enabled faster approvals, sustained efforts are required to ensure affordability, long-term safety, and equitable access for children worldwide.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"513-528"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
"I miss stars, too": a thematic analysis of the experiences of persons with retinitis pigmentosa using Reddit. “我也想念星星”:Reddit上对色素性视网膜炎患者经历的专题分析。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-04-29 DOI: 10.1007/s12687-025-00796-1
Qin Xiang Ng, Hwei Wuen Chan, Gerald Choon Huat Koh
{"title":"\"I miss stars, too\": a thematic analysis of the experiences of persons with retinitis pigmentosa using Reddit.","authors":"Qin Xiang Ng, Hwei Wuen Chan, Gerald Choon Huat Koh","doi":"10.1007/s12687-025-00796-1","DOIUrl":"10.1007/s12687-025-00796-1","url":null,"abstract":"<p><p>Retinitis pigmentosa (RP) is a progressive retinal disorder that affects the emotional, psychological, and social lives of those afflicted. With limited effective treatments, understanding the personal challenges faced by individuals with RP is essential for developing holistic care strategies. Informed by a critical realist epistemology, posts and comments from two central subreddit threads with at least 30 comments each were extracted and analyzed using Braun and Clarke's reflexive thematic analysis. A total of 69 posts from 36 unique commenters were coded, and themes were derived through team discussions and an iterative process to identify recurring patterns in the data. Three key themes were identified: (1) navigating grief and loss, reflecting the emotional toll of progressive vision loss and the associated loss of independence and cherished activities; (2) establishing independence through coping mechanisms, which involved using technology, adapting hobbies, and emotional resilience to manage the impacts of RP; and (3) maintaining a delicate balance between hope and frustration with treatments, highlighting participants' mixed feelings toward emerging therapies like gene therapy and their perceived efficacy. In summary, the findings underscore the complex psychological and emotional challenges faced by individuals with RP and the need for more holistic care services. Understanding these experiences is crucial for healthcare providers, policymakers, and researchers to better support the RP community. Future research should focus on the psychological impacts of RP, the effectiveness of coping strategies, and outcomes of supportive interventions to enhance the quality of life of those affected.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"539-544"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144016805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Call for neurofibromatosis specialty care clinics in South Carolina. 呼叫南卡罗来纳的神经纤维瘤病专科诊所。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-31 DOI: 10.1007/s12687-025-00803-5
Camerun C Washington, Kenya M De Leon, Jessica A Cooley Coleman, Wesley G Patterson, Michael J Lyons
{"title":"Call for neurofibromatosis specialty care clinics in South Carolina.","authors":"Camerun C Washington, Kenya M De Leon, Jessica A Cooley Coleman, Wesley G Patterson, Michael J Lyons","doi":"10.1007/s12687-025-00803-5","DOIUrl":"10.1007/s12687-025-00803-5","url":null,"abstract":"<p><p>Grounded in patient input, this study assesses the perceived need for a dedicated multidisciplinary clinic for individuals and families with neurofibromatosis type 1 (NF1) in South Carolina, USA. A 62-question online cross-sectional survey, available in English and Spanish, was distributed to South Carolina residents over age 18 years who were either adults who do not have NF1 but have children with NF1, adults with NF1 who have children with NF1, and adults with NF1 who do not have children or may have children without NF1, to capture a wide range of experiences. Survey responses were analyzed using descriptive statistics to summarize key findings and chi-squared and Fisher's exact tests for categorical comparisons. Free-text responses were examined by content analysis and evaluated by a second researcher. A total of 52 survey responses were analyzed. 90.4% indicated that a specialty clinic should exist in South Carolina. More than 70% of participants reported adherence to medical advice for NF1 and saw a doctor at least once per year, with children and adults seeing several relevant specialists. Analysis of free text responses revealed that participants perceive limited resources and awareness for NF1 in South Carolina, with 4 key gaps identified in both education and clinical care. Establishing a dedicated, multidisciplinary care center for individuals with NF1 in South Carolina can address 3 out of the 4 clinical care gaps and 1 out of the 4 education gaps identified by the content analysis and is highly supported by participant preference.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"569-580"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401793/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192277","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic. 爱尔兰共和国生化遗传疾病患者及其家庭获得遗传咨询和基因检测的经验。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-04-02 DOI: 10.1007/s12687-025-00791-6
Arnott C, Ward Aj, Lambert Dm, Butterly D, McGrath V, Lynch Sa, O 'Byrne Jj
{"title":"Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic.","authors":"Arnott C, Ward Aj, Lambert Dm, Butterly D, McGrath V, Lynch Sa, O 'Byrne Jj","doi":"10.1007/s12687-025-00791-6","DOIUrl":"10.1007/s12687-025-00791-6","url":null,"abstract":"<p><strong>Background: </strong>National and international reports recommend that genetic counselling should be made available to parents of children living with inherited rare diseases; and to patients themselves upon turning 16-18 years old. Long wait times of up to two years for genetic counselling through Children's Health Ireland contributed to a lack of accessibility for adult patients with inherited metabolic disorders (IMDs). At the time of the study, the National Centre for Inherited Metabolic Disorders (NCIMD) Mater, which takes care of ~ 1400 adult patients with genetic disorders primarily affecting biochemical pathways, did not have direct access to a genetic counsellor.</p><p><strong>Objectives and methods: </strong>An online survey was conducted to investigate the genetic testing and counselling experiences of adult patients with rare IMDs and their families within the Republic of Ireland.</p><p><strong>Results: </strong>The NCIMD-Mater survey highlighted a lack of patient knowledge of and access to genetic counselling services; with some patients unaware of and others incorrectly understanding the role of genetic counselling. Most patients who underwent genetic testing were tested by a non-genetic healthcare professional. Satisfaction levels of genetic counselling services were mixed with some patients reporting delaying personal life and family plans due to wait times for genetic counselling.</p><p><strong>Conclusion: </strong>This study highlights deficiencies in the genetic testing and counselling experience of Irish IMD patients. Embedding genetic counselling into multidisciplinary IMD teams would increase access to genetics education for patients and families and improve the clinical service. This study may be utilized to measure the impact of integrating genetic counsellors into NCIMD-Mater.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"529-538"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing. 探索荷兰成年人对人类生殖系基因编辑的遗传状况的看法。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-04-14 DOI: 10.1007/s12687-025-00792-5
S Jeanne A N Arnold, Diewertje Houtman, Isabel R A Retel Helmrich, Sander R Hilberink, Sam R Riedijk
{"title":"An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing.","authors":"S Jeanne A N Arnold, Diewertje Houtman, Isabel R A Retel Helmrich, Sander R Hilberink, Sam R Riedijk","doi":"10.1007/s12687-025-00792-5","DOIUrl":"10.1007/s12687-025-00792-5","url":null,"abstract":"<p><p>Views of people with a genetic condition are crucial in deliberations on human germline gene editing (HGGE), but their perspectives are at risk to be devalued due to epistemic injustice and insufficient attention for the possible sensitivities surrounding HGGE. This study set out to explore the perspectives of people dealing with a genetic condition regarding HGGE, and the possible sensitivities surrounding this topic. We conducted a 2-phase qualitative interview (N = 29) and focus group study (N = 9) on the perspectives of people with or carrying a genetic condition and family members regarding HGGE. Insights from the interviews were used in the organization of the focus groups. We included 38 persons who have experiences with 18 different genetic conditions. Three main themes were identified: personal deliberation on HGGE, HGGE in the context of reproductive decision making and the impact of HGGE on society. Participants stated discussing the topic was controversial, complicated and overwhelming. An informal setting with peer support helped them to process their thoughts and feelings. This study found three main conclusions. First, the perspectives on HGGE are highly influenced by the perception of a genetic condition as a burden or as part of an identity. Secondly, in the deliberation on HGGE, many participants experienced a conflict between accepting a genetic condition and taking action to mitigate potential harm. Thirdly, the subject and object of the deliberation on HGGE mattered: for whom and what for? Moreover, this study has yielded pragmatic recommendations to accommodate sensitivities around discussing HGGE.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"489-501"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Empowerment of parents of infants with congenital heart disease after rapid genome sequencing : April 11, 2025, revised June 20, 2025. 快速基因组测序后先天性心脏病患儿父母的赋权:2025年4月11日,2025年6月20日修订。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-07-14 DOI: 10.1007/s12687-025-00813-3
Rita M Cheney, Gabrielle C Geddes, Sara M Fitzgerald-Butt
{"title":"Empowerment of parents of infants with congenital heart disease after rapid genome sequencing : April 11, 2025, revised June 20, 2025.","authors":"Rita M Cheney, Gabrielle C Geddes, Sara M Fitzgerald-Butt","doi":"10.1007/s12687-025-00813-3","DOIUrl":"10.1007/s12687-025-00813-3","url":null,"abstract":"<p><strong>Background: </strong>Despite rapid genome sequencing (rGS) being utilized as a first-tier genetic test for infants with congenital heart disease (CHD), little is known about its impact on parental empowerment.</p><p><strong>Methods: </strong>To address this gap, parents of infants with CHD (≤ 1 year old at the time of inpatient rGS) were asked to participate in an online survey, which measured empowerment using an adapted version of the Genomic Empowerment Scale (GEmS). The scale consists of four subscales that measure emotional management, meaning making, seeking information and support, and implications and planning surrounding a child's diagnosis. Subscale scores were standardized for comparison and coded as above (+) or below (-) the mean. Based on the standardized score pattern (+/-) in each subscale, an empowerment profile was assigned to each participant. Empowerment profiles were analyzed for trends based on CHD type (left ventricular outflow tract obstruction (LVOTO) vs. non-LVOTO), genetic test result type, and number of genetics visits.</p><p><strong>Results: </strong>The most common empowerment profile was the 'Engaged but Worried Planner' (15/37 = 41%). This empowerment profile was more common in parents of infants with non-LVOTO CHD (73.3%) than those with LVOTO CHD (26.7%). Conversely, there was little difference in empowerment profile type between rGS result type. Parents whose child had ≤ 3 genetics visits displayed the 'Engaged but Worried' profile most often, whereas those with ≥ 4 visits had more even distributions between profiles.</p><p><strong>Conclusion: </strong>Understanding empowerment profiles in this population may help guide practitioners to empower parent decision-making, emotional management, and planning for the future of their child.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"619-627"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144627402","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio. 遗传学服务在俄亥俄州新生儿听力损失诊断中的应用。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-07-09 DOI: 10.1007/s12687-025-00816-0
Cara L Barnett, Prashant Malhotra, Allyson VanHorn, Boriana Zaharieva, John Myers, William J Riggs, Elizabeth Jordan
{"title":"Utilization of genetics services in the diagnosis of hearing loss in newborns in the state of Ohio.","authors":"Cara L Barnett, Prashant Malhotra, Allyson VanHorn, Boriana Zaharieva, John Myers, William J Riggs, Elizabeth Jordan","doi":"10.1007/s12687-025-00816-0","DOIUrl":"10.1007/s12687-025-00816-0","url":null,"abstract":"<p><strong>Introduction: </strong>In 50-60% of confirmed congenital hearing loss (HL) diagnoses, the etiology is genetic. The importance of a genetic evaluation for HL is recognized by several national organizations in the United States. This study aimed to evaluate provider practice patterns, beliefs, and knowledge of the role of genetics in the medical diagnosis of HL and assess parent experience and knowledge regarding the role of genetics in the diagnostic process.</p><p><strong>Methods: </strong>Two surveys were designed using published guidance on optimal care of newborns with HL. Participants included providers (otolaryngologists (ENT) and audiologists) and parents of a newborn with confirmed HL in the state of Ohio from 2017 to 2018.</p><p><strong>Results: </strong>95 providers (14 ENT; 81 audiologist) and 39 parent responses were included in the analysis. Only 51% of providers refer for a genetics evaluation (n = 49), and less than 10% order genetic testing (n = 9). However, 96% of providers believe families should be presented with the opportunity to pursue a genetics evaluation. In this study, only 46% (n = 18) of parents reported that they were referred to genetics, and 36% (n = 14) reported that their child had genetic testing for HL. For parentss whose child did not have a genetic evaluation, 53% (n = 17/32) were very likely or likely, 25% (n = 8/32) were unsure, and 22% (n = 7/32) were very unlikely or unlikely to pursue an evaluation.</p><p><strong>Conclusion: </strong>There is inconsistent implementation of guideline directed care for genetic services for HL. As opportunities for gene therapies for HL advance, there is a need to expand access to genetic evaluation for HL.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"603-613"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144592640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Re-consent practices in biobanks in Japan: current status and stakeholder perspectives. 日本生物银行的再同意实践:现状和利益相关者的观点。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-07-17 DOI: 10.1007/s12687-025-00820-4
Hiroko Terui-Kohbata, Hiyori Ueda, Masayuki Yoshida
{"title":"Re-consent practices in biobanks in Japan: current status and stakeholder perspectives.","authors":"Hiroko Terui-Kohbata, Hiyori Ueda, Masayuki Yoshida","doi":"10.1007/s12687-025-00820-4","DOIUrl":"10.1007/s12687-025-00820-4","url":null,"abstract":"<p><p>Pediatric research in rare diseases relies on sharing biological specimens, clinical data, and analytical information among researchers. Re-consent is essential in longitudinal biobank (BB) research to ensure that pediatric participants remain informed and willing to continue. However, the issue of re-consent-obtaining consent once participants reach adulthood-remains a significant ethical concern. This study examined the current practices of re-consent acquisition in Japanese BBs and explores stakeholder opinions regarding genomic data sharing. A survey of 41 BBs revealed that only 25% of those handling pediatric samples obtained re-consent, all via written informed consent. Although 71% of respondents recognized the necessity of re-consent, the methods used to obtain it varied. Stakeholders identified ethical and logistical challenges, including privacy concerns and administrative burden. Various re-consent methods were suggested, with preferences depending on feasibility and ethical considerations. The findings highlight the need for policy discussions to balance data-sharing benefits with participant rights and privacy protection in pediatric genomic research. Determining optimal re-consent methods requires continued stakeholder engagement, including research participants and the public.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"639-645"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144660752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Experiences and insights of thalassaemia carriers from an indigenous community in Sabah, Malaysia. 马来西亚沙巴一个土著社区地中海贫血携带者的经验和见解。
IF 1.8
Journal of Community Genetics Pub Date : 2025-10-01 Epub Date: 2025-05-14 DOI: 10.1007/s12687-025-00800-8
Norita Hussein, Yew Kong Lee, Syahirah Mohamed Reza, Primus John, Anisah Azmi, Nadeem Qureshi, Chirk Jenn Ng
{"title":"Experiences and insights of thalassaemia carriers from an indigenous community in Sabah, Malaysia.","authors":"Norita Hussein, Yew Kong Lee, Syahirah Mohamed Reza, Primus John, Anisah Azmi, Nadeem Qureshi, Chirk Jenn Ng","doi":"10.1007/s12687-025-00800-8","DOIUrl":"10.1007/s12687-025-00800-8","url":null,"abstract":"<p><p>Despite the government's concerted efforts in implementing the National Thalassaemia Prevention and Control Program since 2004, public awareness and attitudes towards participation in screening remain unsatisfactory. This study explored the experiences and insights of carriers from an indigenous community in Sabah, Malaysia, which has the highest carrier rates in the country. Understanding the perspectives of these carriers on the thalassaemia screening program and its impact is essential for ensuring its success. Participants who are thalassaemia carriers were purposively recruited for in-depth interviews at a hospital's thalassaemia day-care centre and at a public health clinic in Kota Belud, Sabah. Interviews were transcribed verbatim and analysed using thematic analysis. A total of 26 thalassaemia carriers were interviewed. Four main themes emerged from this study: 1) \"I don't really understand the meaning of being a carrier!\" 2) How does knowing thalassaemia diagnosis of family members influence the decision to undergo screening? 3) Impact of carrier status on relationships, emotional well-being and reproductive decisions; and 4) The importance of being a carrier should not be overlooked. To enhance future efforts supporting the current thalassaemia screening strategy, recommendations include improving understanding of what it means to be a carrier, correcting misconceptions, and importantly, revisiting and strengthening the cascade or family screening strategy at the community level. It is essential to address the implications of being a carrier appropriately in clinical care, as they should not be underestimated. Additionally, community partnerships can help raise awareness among the indigenous rural population.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"557-567"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144056164","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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