Journal of Community Genetics最新文献_第3页

Stakeholder experiences and perspectives of genetic and genomic screening procedures in the Gulf Cooperation Council (GCC) region: a qualitative exploration. 海湾合作委员会（GCC）地区基因和基因组筛选程序的利益相关者经验和观点：定性探索。

IF 1.8

Journal of Community Genetics Pub Date : 2025-09-17 DOI: 10.1007/s12687-025-00819-x

Safa Shaheen, Mohammed Ghaly

引用次数: 0

Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities. 接受自闭症子女智力障碍基因诊断的父母所面临的模棱两可。

IF 1.8

Journal of Community Genetics Pub Date : 2025-09-05 DOI: 10.1007/s12687-025-00817-z

Robert Klitzman, Ekaterina Bezborodko, Wendy K Chung, Paul S Appelbaum

{"title":"Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities.","authors":"Robert Klitzman, Ekaterina Bezborodko, Wendy K Chung, Paul S Appelbaum","doi":"10.1007/s12687-025-00817-z","DOIUrl":"https://doi.org/10.1007/s12687-025-00817-z","url":null,"abstract":"Genetic testing is now routinely recommended for autism and/or intellectual disability (ID), but how parents deal with the uncertainties that may be involved has not been explored. We interviewed 28 parents who had received results identifying de novo genetic variants responsible for their offspring's autism. Parents faced six broad types of ambiguities concerning: cause of the de novo variant, likelihood of medical manifestations, children's future independence and support needs, availability of future medical benefits/treatments, potential social benefits and potential social harms. These ambiguities prompted anxiety/stress. Parents tried to manage these uncertainties in several ways: focusing on the child's immediate needs, seeking more information, seeking bases of comparison in other children, monitoring for future symptoms (and often enlisting others to do so), seeking metaphors and conceptual frameworks to understand uncertainties, making and accepting trade-offs, and participating in research. Several factors influence these uncertainties and responses, including age/life-stage of the child, psychological factors, concerns about the future of the broader healthcare and insurance systems, potential differences due to geography (e.g., local variations in medical, social and educational services available) and scientific background and literacy. Members of a couple also often perceive and respond to these issues differently. These data, the first to examine the ambiguities that arise when receiving genetic diagnoses for their autistic offspring with ID, reveal the key roles of several social factors and have important implications for future research, education of families, and training and practice of healthcare providers, teachers, social service agencies, policymakers and others.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001599","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

Correction: Achieving the vision of genomics to improve health for all requires a focus on diversity, equity and inclusion. 更正：实现基因组学改善所有人健康的愿景需要注重多样性、公平和包容。

IF 1.8

Journal of Community Genetics Pub Date : 2025-09-04 DOI: 10.1007/s12687-025-00830-2

Muin J Khoury, Colleen M McBride, Martina C Cornel

引用次数: 0

What kind of information is requested by patients and families with genetic disorders? : The analysis of an online patient community in South Korea. 遗传疾病患者和家属需要什么样的信息？：韩国在线患者社区分析。

IF 1.8

Journal of Community Genetics Pub Date : 2025-08-22 DOI: 10.1007/s12687-025-00827-x

Su-A Lee, Sholhui Park, Min-Kyung So, Hae-Sun Chung, Hae Soon Kim, Arang Kim, Jungwon Huh

{"title":"What kind of information is requested by patients and families with genetic disorders? : The analysis of an online patient community in South Korea.","authors":"Su-A Lee, Sholhui Park, Min-Kyung So, Hae-Sun Chung, Hae Soon Kim, Arang Kim, Jungwon Huh","doi":"10.1007/s12687-025-00827-x","DOIUrl":"https://doi.org/10.1007/s12687-025-00827-x","url":null,"abstract":"Background: Genetic counseling is essential for patients and families with genetic disorders, providing accurate information and supporting informed decisions. However, limited access to counseling services in some countries can lead to confusion and anxiety, prompting many to seek information in online communities. This study analyzes user-generated questions from an online community in South Korea to understand the specific information needs of patients and families with genetic disorders.Methods: This study analyzed 289 questions posted by 122 members on the Naver cafe < All About Genetic Disorders>( https://cafe.naver.com/geneticdx ) between November 27, 2022, and December 23, 2023. Quantitative analysis was performed to identify the types and frequencies of questions, while qualitative analysis examined detailed content.Results: The most frequently requested information was about disease information (28.4%), followed by genetics knowledge (26.6%), genetic testing (26.3%), and other topics (18.7%). Qualitative analysis revealed that patients and families needed detailed information about long-term progression and symptom manifestation. Many expressed confusion and anxiety regarding the meaning of variants of uncertain significance (VUS) in genetic testing results. They sought real-life patient experiences, in-depth professional informations, and wanted to know how to efficiently find accurate information.Conclusion: This study demonstrated the importance of providing patients and families with professional and easily understandable information, highlighting the necessity for a well-organized genetic counseling system. To support patients and their families, it is essential to develop patient-friendly online platforms and expand access to genetic counseling services.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144973667","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

Strengthening Medical Genetics and Genomic Medicine in Colombia: Progress, Challenges, and Strategic Opportunities. 加强哥伦比亚的医学遗传学和基因组医学：进展、挑战和战略机遇。

IF 1.8

Journal of Community Genetics Pub Date : 2025-08-15 DOI: 10.1007/s12687-025-00826-y

Paola Liliana Páez Rojas, Lina María Mora, Juan Sebastián Rincón, Ignacio Zarante Montoya, María Camila León-Sanabria, Ana María Urueña-Serrano

{"title":"Strengthening Medical Genetics and Genomic Medicine in Colombia: Progress, Challenges, and Strategic Opportunities.","authors":"Paola Liliana Páez Rojas, Lina María Mora, Juan Sebastián Rincón, Ignacio Zarante Montoya, María Camila León-Sanabria, Ana María Urueña-Serrano","doi":"10.1007/s12687-025-00826-y","DOIUrl":"https://doi.org/10.1007/s12687-025-00826-y","url":null,"abstract":"Colombia, an upper-middle-income country with over 52 million inhabitants, has made significant progress in consolidating medical genetics as a clinical specialty, with a growing presence in healthcare system, public health and academia. The development of specialized training programs, the establishment of a professional association, and the inclusion of genetic tests and treatments for rare diseases (RDs) within the health system have been key achievements. Birth defects (BD) remain one of the leading causes of infant morbidity and mortality, and alongside RDs, are recognized as public health priorities. Among regulatory milestones, the Newborn Screening (NBS) Law has strengthened early diagnosis efforts. Nevertheless, operational challenges persist, particularly in the nationwide implementation of genetic services, which remain concentrated in urban centers, creating significant gaps in rural areas. While technologies such as next-generation sequencing (NGS) are increasingly available in the private sector, a persistent fragmentation between molecular diagnosis and clinical care limits their impact. Furthermore, interoperability with health information systems is limited, and the country's low density of medical geneticists restricts service availability. The Colombian experience underscores the value of institutional coordination, investment in diagnostic infrastructure, and the active role of patient organizations. Despite existing challenges, regional cooperation within Latin America emerges as a strategic opportunity to strengthen medical genetics and expand access for populations affected by RDs and complex genetic conditions.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144856745","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

Perceptions of sickle cell disease and genetic counseling among single young adults in Tamale, Ghana. 镰状细胞病的认识和遗传咨询单身青年在加纳塔马莱。

IF 1.8

Journal of Community Genetics Pub Date : 2025-08-12 DOI: 10.1007/s12687-025-00825-z

Ahmed-Sherrif Kanvela Yussif, Annabella Osei-Tutu, Judith A Osae-Larbi

引用次数: 0

Determinants of perception and willingness to uptake premarital screening test for sickle cell disease among health sciences undergraduate students in Dar es Salaam, Tanzania. 坦桑尼亚达累斯萨拉姆健康科学本科学生对镰状细胞病的认知和意愿的决定因素

IF 1.8

Journal of Community Genetics Pub Date : 2025-08-06 DOI: 10.1007/s12687-025-00824-0

Indo Ndaigeze, Titus Kabalimu, Moshi Ntabaye

{"title":"Determinants of perception and willingness to uptake premarital screening test for sickle cell disease among health sciences undergraduate students in Dar es Salaam, Tanzania.","authors":"Indo Ndaigeze, Titus Kabalimu, Moshi Ntabaye","doi":"10.1007/s12687-025-00824-0","DOIUrl":"https://doi.org/10.1007/s12687-025-00824-0","url":null,"abstract":"Sickle cell disease (SCD) is a significant genetic disorder that imposes a considerable global health burden. The notable prevalence of SCD in Tanzania, coupled with extensive economic, psychological, and social ramifications, underscores the importance of premarital genetic screening to carriers of the sickle cell trait. This study aimed to assess the determinants of perception and willingness to uptake premarital genotype screening test for sickle cell disease carriers (PMGS) among health sciences undergraduate students in Dar es Salaam, Tanzania. An analytical cross-sectional design was used among 470 undergraduate students selected using a stratified random sampling technique. A structured questionnaire was used to collect data using Google Forms. Data were analyzed using the Statistical Package for the Social Sciences, version 25. Descriptive and inferential statistical analyses were performed. A total of 448 questionnaires were completed and submitted, with a response rate of 95.3%. More than half of the students (57.24%) had a good perception of PMGS, and the majority (92.2%) expressed their intention to participate in PMGS. Respondents who received information from healthcare professionals had a significant association (p = 0.031) with good perception. Most students were willing to participate in the PMGS program. As healthcare students, they are an important group in the development of national screening programs; similar studies in other universities in Tanzania are needed to obtain representative samples of undergraduates nationwide.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790374","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

Teaching and training of human resources for genetics and genomics in Brazil. 巴西遗传学和基因组学人力资源的教学和培训。

IF 1.8

Journal of Community Genetics Pub Date : 2025-08-01 Epub Date: 2024-08-13 DOI: 10.1007/s12687-024-00726-7

Fernanda Teresa de Lima, Maria Angélica de Faria Domingues de Lima, Patrícia Santana Correia, Rachel Sayuri Honjo, Rayana Elias Maia, Sandra Obikawa Kyosen, Débora Gusmão Melo

{"title":"Teaching and training of human resources for genetics and genomics in Brazil.","authors":"Fernanda Teresa de Lima, Maria Angélica de Faria Domingues de Lima, Patrícia Santana Correia, Rachel Sayuri Honjo, Rayana Elias Maia, Sandra Obikawa Kyosen, Débora Gusmão Melo","doi":"10.1007/s12687-024-00726-7","DOIUrl":"10.1007/s12687-024-00726-7","url":null,"abstract":"This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics. We examined the training of health professionals specializing in genetics through lato sensu and stricto sensu postgraduate programs and presented the proposals for multi-professional residency in genetic counseling and genetics and genomics that are currently the subject of discussion in the country. Finally, we highlighted the importance of training primary health care professionals concerning genetics and genomics for the effective establishment of a line of care for individuals with genetic disorders in the Brazilian Unified Health System. Therefore, we provided a thorough overview of how genetics is (or is not) incorporated into professional training in a comprehensive public healthcare system such as the Brazilian.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"397-407"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12321728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972095","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

Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil. 巴西用户对直接面向消费者的基因检测的动机、看法和影响。

IF 1.8

Journal of Community Genetics Pub Date : 2025-08-01 Epub Date: 2024-11-27 DOI: 10.1007/s12687-024-00755-2

Larissa Siqueira Penna, Raphael Bruno Amemiya, Thiago Pires, Larissa Sousa Silva Bonasser, Leonardo Carvalheira, Cintia Fridman, Regina Celia Mingroni-Netto, Michel Satya Naslavsky, Ricardo di Lazzaro Filho

{"title":"Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil.","authors":"Larissa Siqueira Penna, Raphael Bruno Amemiya, Thiago Pires, Larissa Sousa Silva Bonasser, Leonardo Carvalheira, Cintia Fridman, Regina Celia Mingroni-Netto, Michel Satya Naslavsky, Ricardo di Lazzaro Filho","doi":"10.1007/s12687-024-00755-2","DOIUrl":"10.1007/s12687-024-00755-2","url":null,"abstract":"Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously. Descriptive statistics and Chi-Square tests were used to analyze the data, with significant findings analyzed using post-hoc and correspondence analysis. This study comprised 1513 Brazilian DTC-GT consumers with a mean age of 42 years old and mostly female (60.8%). Participants' primary motivation for purchasing the test was to learn about their genetic predispositions to diseases (87.2%) followed by biogeographical ancestry (86.2%). Fewer than 20% of respondents reported consulting a healthcare professional due to the test results (18.4%), and most consumers felt confident in independently understanding the test results (66.9%), which was significantly associated with Health/Biological Sciences professional field (p < 0.001). Additionally, many customers felt glad (63.3%), and few felt worried after receiving their results (13.4%), particularly concerning health outcomes. Lifestyle changes included dietary adjustments (38.7%), regular health check-ups (24.2%) and increased physical activity (16.5%). Overall, 64.0% of respondents reported altering habits following test results. These findings contribute to understanding the motivations and impacts of DTC-GT among Brazilian consumers, indicating positive lifestyle changes and limited negative psychological impacts.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"467-475"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12321725/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142733313","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

Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions. 中低收入国家罕见疾病的基础研究和转化研究：挑战与解决方案。

IF 1.8

Journal of Community Genetics Pub Date : 2025-08-01 Epub Date: 2024-12-13 DOI: 10.1007/s12687-024-00759-y

Graziella Rodrigues, Edina Poletto, Filippo Pinto E Vairo, Guilherme Baldo

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