Journal of Community Genetics最新文献

{"title":"Perceptions of family health history in an East Baltimore community.","authors":"Yasheel Pandya, Angela Zhu, Ethan Mondell, Sophia Choi, Gina Kim, Valentina Vanos, Siddharth Venkatraman, Panagis Galiatsatos, Joann Bodurtha","doi":"10.1007/s12687-025-00804-4","DOIUrl":"10.1007/s12687-025-00804-4","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"581-587"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144188274","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}

{"title":"The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening.","authors":"Sara M Rankin, Lucy Marskell, Lina Hamad, Laura Machin","doi":"10.1007/s12687-025-00788-1","DOIUrl":"10.1007/s12687-025-00788-1","url":null,"abstract":"<p><p>Countries in the Global North use biochemical tests to screen for at least 20 diseases in newborns, while in the UK, only 10 diseases are screened for. The United Kingdom National Screening Committee (UKNSC) is the entity responsible for making recommendations to the government with regards to which conditions should be included in the Newborn Screening (NBS) programme. Examination of the meeting minutes of the UKNSC between 2015 and 2022 revealed that no new diseases were recommended for NBS during this period. If there was no 'effective treatment' for the disease it was rejected for NBS. In 2022, the Newborn Genomes Programme (NGP) was announced; a research study aiming to screen for over 223 rare genetic diseases using whole genome sequencing technology in newborns. While this could lead to a seismic expansion of NBS in the UK, many of the diseases included in the programme are currently considered 'actionable' rather than 'treatable' conditions. This poses an ethical conundrum for the UKNSC, which is involved in both NBS and NGP, given that it has thus far made recommendations against the expansion of the NBS programme using available biochemical assays, contrary to what has been implemented in other countries in the Global North. In this paper, we aim to critically examine the processes and circumstances that have held back the expansion of the NBS programme in the UK, as compared with other countries, focusing on the period 2015-2022, when no new diseases were added to the UK NBS programme, and contrast them with the drivers that have led to the support and funding for the NGP during this same time.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"589-601"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267599","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}

{"title":"The impact of the three major human genome editing reports on the governance landscape.","authors":"John Conley, Alexandra Robinson, Rachel Wilson, Kristine Kuczynski, Gail Henderson","doi":"10.1007/s12687-025-00809-z","DOIUrl":"10.1007/s12687-025-00809-z","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"503-512"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303226","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}

{"title":"Association between cancer screenings uptake and genetic testing for cancer risk among US adults: findings from HINTS 2017-2020.","authors":"Young-Rock Hong, Ruixuan Wang, Allison Carrier, Luisel Ricks-Santi, Turner Kea, Krupal Patel, Beth A Virnig, Ilyas Sahin, Dejana Braithwaite","doi":"10.1007/s12687-025-00797-0","DOIUrl":"10.1007/s12687-025-00797-0","url":null,"abstract":"<p><p>Genetic testing for cancer risk is a vital tool for preventive care, yet its association with the uptake of evidence-based cancer screening remains unclear. This study examined the association between cancer-risk genetic testing and cancer screening uptake using data from the Health Information National Trends Survey (2017 and 2020), a nationally representative sample of US adults. We focused on the United States Preventive Services Task Force (USPSTF)-recommended screening tests for colorectal (CRC), breast, and cervical cancers. Multivariable logistic regression models, adjusted for sociodemographic and clinical factors, were used to assess the relationship between cancer screening uptake and cancer-risk genetic testing. The analysis included 6,629 respondents (mean age 48.5 years; 50.7% female; 61.1% non-Hispanic White). Of the respondents, 3.3% had undergone genetic testing for cancer risk. Among eligible populations, screening uptake was 85.2% for Pap tests, 80.8% for mammograms, and 81.3% for CRC. Unadjusted analysis showed a significant association between breast cancer screening and genetic testing (p = 0.005), which lost significance after covariate adjustment. Most respondents who underwent genetic testing received result interpretation assistance from healthcare providers and genetic counselors. Among those who received genetic testing, all respondents who received assistance from genetic counselors were adherent to cancer screening recommendations. Our results suggest that while genetic testing was associated with breast cancer screening in unadjusted analyses, this association was not maintained after adjusting for covariates. No significant associations were found between genetic testing and cervical cancer or CRC screening. Further research using prospective designs is needed to examine the effectiveness of genetic testing in enhancing cancer prevention and screening efforts.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"545-556"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040796","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}

{"title":"Awareness and attitudes of pregnant women about prenatal screening and diagnostic tests from Türkiye.","authors":"Didem Kaymak, Tuğba Kalaycı, Gözde Yeşil Sayın, Birsen Karaman, Seher Başaran, Ceren Çebi, Betül Başkapan, Rıza Madazlı","doi":"10.1007/s12687-025-00821-3","DOIUrl":"10.1007/s12687-025-00821-3","url":null,"abstract":"<p><p>Prenatal screening and diagnostic tests are complex procedures that have to be conducted within a limited timeframe and require pregnant women to make rapid decisions. This study aimed to evaluate the knowledge and attitude of pregnant women by posing particular questions on screening and diagnostic tests, and to determine the correlation with sociodemographic and obstetric factors. A total of 259 pregnancies were enrolled to evaluate their knowledge of prenatal screening and diagnostic tests. Participants were categorized into groups and were presented with 5-point Likert-type questions. Based on the responses, each question was evaluated individually and scored. The mean age was 29.97 ± 5.63, the mean duration of marriage was 6.06 ± 5 years, and 32.8% of participants had a university degree or above. Among them, 52.1% (135/259) had not undergone prenatal screening tests. The percentage of recommended prenatal diagnostic testing was 37.1% (96/259). Demographic and obstetric characteristics were compared between those who underwent screening tests and those who did not. The percentage of screening tests was higher among employed women and those in consanguineous marriages. A statistically significant correlation was found between participants' consent for diagnostic testing, gestational week, employment status, and the type of screening test administered (p < 0.05). Questionnaire scores were significantly higher in both screened and unscreened groups among those with a university degree or higher. These findings emphasize the importance of informing pregnant women effectively, which may be achieved through a well-organized counseling network.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"629-637"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144643854","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}

{"title":"The stigma of seriousness: views of genome editing scientists and policy professionals on defining serious disease.","authors":"Margaret Waltz, Michael A Flatt, R Jean Cadigan","doi":"10.1007/s12687-025-00808-0","DOIUrl":"10.1007/s12687-025-00808-0","url":null,"abstract":"<p><p>In international policy discussions, \"serious disease\" is frequently used as a criterion for appropriate uses of human genome editing technology, despite the lingering imprecision of its definition and its potential to stigmatize those with genetic conditions. Drawing from interviews conducted with genome editing scientists and members of governance groups attempting to influence policy, our findings provide empirical evidence of the lack of shared definitions of serious disease and highlight challenges of relying on the term. The difficulty in defining serious disease among those influencing the translation of genome editing research points to the need to recognize community context and lived experiences as part of the measurement of seriousness. This is particularly true when considering that for some diseases, the development of therapeutic gene editing may introduce or exacerbate stigma or discrimination for those with the conditions. Including the perceptions of serious disease among those with lived experience of genetic conditions can help guide ethical policies and enable the genome editing community to avoid imposing the views of those in power as to what constitutes serious.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"615-617"},"PeriodicalIF":1.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12401837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267598","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}

{"title":"Factors affecting genetic counseling experiences of foreign residents in Japan: implications for healthcare inclusivity.","authors":"Kate Nakasato, Moeko Isono, Kazuto Kato","doi":"10.1007/s12687-025-00833-z","DOIUrl":"https://doi.org/10.1007/s12687-025-00833-z","url":null,"abstract":"<p><p>The rapid development of genomic medicine and simultaneous global diversification of societies present new and complex challenges for healthcare systems worldwide. Medical professionals are now expected to communicate highly complex and evolving genetic information while simultaneously addressing the diverse linguistic, cultural, and social needs of their patient populations. At the center of this effort is the genetic counselor, who must navigate cultural perceptions of genetics, varying levels of health literacy, language barriers, and socioeconomic disparities to deliver equitable and effective care. Research in this area is expanding. However, its global distribution remains uneven and disproportionately concentrated in certain regions. In Japan, where many sectors of society are not yet fully equipped to meet the needs of its increasing migrant population, i.e., foreign residents, research describing the factors that impact their genetic counseling experiences is scarce. To fill this gap, we conducted semi-structured qualitative interviews with ten individuals who have had genetic counseling in Japan for prenatal diagnosis/screening, hereditary cancer, or hereditary monogenic disease. Thematic analysis revealed five factors that impacted their experience with genetic counseling: (1) Japanese language proficiency, (2) genetic literacy, (3) digital health literacy, (4) global family connections, and (5) interactions with medical professionals. These findings not only provide nuance to existing literature but also suggest areas of improvement for the cultural competence training of genetic counselors in Japan and point towards the need for guiding resources at the international level.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200798","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}

{"title":"Genetic and genomic insights of the Comcáac people.","authors":"Alejandra Paulina Pérez-González, Israel Aguilar-Ordoñez, Norma A Caballero, Enrique Morett","doi":"10.1007/s12687-025-00829-9","DOIUrl":"https://doi.org/10.1007/s12687-025-00829-9","url":null,"abstract":"<p><p>The Comcáac (also known as Seri) are an indigenous community from the central coast of the Sonoran Desert in Mexico. Genetic studies conducted on this population since the late 1990s have revealed marked genetic differentiation resulting from pronounced genetic drift caused by a historical bottleneck, which is consistent with anthropological and linguistic records. Research has examined allele frequencies and genetic variants associated with cirrhosis risk, pathogen adaptation, forensic markers, vitamin and sugar metabolism, body mass index, immune responses, cytochrome genes, genetic distances with other groups, and migration patterns. While early investigations relied on classical genetic approaches, more recent studies have employed omics technologies, including whole-genome sequencing. Analyses of the Comcáac genome provide valuable insights into the phenotypic traits and medical predispositions of this community.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145200811","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}

{"title":"Genetics services in Latin America: a descriptive study of availability and utilization of genetics in healthcare.","authors":"Ryan J German, Erin Atkinson, Eric A Storch, Claudia Soler-Alfonso, Sonia Margarit, Philip J Lupo, Stacey Pereira","doi":"10.1007/s12687-025-00832-0","DOIUrl":"https://doi.org/10.1007/s12687-025-00832-0","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145187113","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}

{"title":"From past to progress: a retrospective study on CFTR genetic testing in South Africa.","authors":"Sarah Walters, Colleen Aldous, Helen Malherbe","doi":"10.1007/s12687-025-00810-6","DOIUrl":"https://doi.org/10.1007/s12687-025-00810-6","url":null,"abstract":"<p><p>Confirming a genetic diagnosis of cystic fibrosis (CF) for clinically affected individuals should be more accessible today, with more laboratories offering testing and improved technologies at lower costs. Instead, diagnostic testing for CF has become more complex due to the variety of genetic testing options available for the one known causative gene (CFTR). This article provides an overview of genetic tests currently available for CF in six laboratories in South Africa. Also, it demonstrates the evolution of CF tests used at one private laboratory in the country via a ten-year retrospective study. The findings of this study may serve as a guide for healthcare providers in selecting appropriate testing for CF diagnostic or carrier genetic confirmation. The choice of genetic test and methodology depends on individualised factors such as the ethnic origin of the patient, test availability, advantages and limitations, and cost. The ethnic diversity of South Africa's populations and probable under-reporting of CF in the country make the diagnosis of this relatively common genetic condition complex. The actual burden of CF in South Africa is unknown, and comprehensive genetic testing, with an ongoing compilation of patient data in the South African CF registry, should assist in addressing the genetic diversity of CF-causing variants.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145138949","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}