Journal of Community Genetics最新文献

{"title":"Public and patient involvement in developing a survey on re-consent for pediatric genomic data sharing in Japan: a GRIPP2-LF report.","authors":"Hiroko Terui-Kohbata, Midori Yamamoto, Tomoyo Takeuchi","doi":"10.1007/s12687-026-00907-6","DOIUrl":"10.1007/s12687-026-00907-6","url":null,"abstract":"<p><strong>Background: </strong>In Japan, adolescents who entered genomic research under proxy consent are asked to re-consent at age 16 for newly collected data, while previously collected data remain usable without consent. Public perspectives on re-consent and data sharing are not well understood. To prepare a survey for adolescents, we used public and patient involvement (PPI) to refine the questionnaire and information sheet.</p><p><strong>Methods: </strong>Four stages of PPI were conducted: a kickoff meeting, two rounds of web-based feedback, and a final discussion. Five PPI members (aged 20-60 s, diverse backgrounds) provided iterative feedback on survey design, wording, and framing. All revisions were documented using GRIPP2-Long Form.</p><p><strong>Results: </strong>PPI members expressed diverse views on re-consent and acceptable secondary data use, supporting the relevance of the survey design. Feedback resulted in major revisions, including clearer terminology, unified wording, improved explanations of parent-child context, existing versus newly collected data, age categorization, and Japan's opt-out procedures. Of 36 comments in the first round, 30 (83%) were incorporated; of 23 comments in the second round, 20 (87%) were incorporated.</p><p><strong>Conclusion: </strong>PPI enhanced the clarity, cultural relevance, and acceptability of materials for a survey on re-consent in pediatric genomic data sharing. As one of the first systematic PPI reports from Japan, this work demonstrates how systematic involvement strengthens ethically sensitive research and provides a transparent foundation for forthcoming surveys.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13242323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148176933","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":"Multiracial individuals' perspectives on participating in genetics research.","authors":"Emilia Chiriboga, Christin Hoell, Daphne Oluwaseun Martschenko, Genevieve L Wojcik, Hannah Wand, Jennifer L Young","doi":"10.1007/s12687-026-00902-x","DOIUrl":"10.1007/s12687-026-00902-x","url":null,"abstract":"<p><p>The vast majority of genetics research is confined to a relatively narrow subset of the global population, limiting the benefits of this research. Recommendations to ameliorate this issue frequently include calls to recruit diverse populations through community engagement, an approach that has been effective in genetics, but has not explicitly included Multiracial individuals, despite this being the fastest-growing population in the United States. As such, this study explored Multiracial individuals' perspectives on: (1) what \"Multiracial community\" means; (2) concerns regarding ancestry-based genetic testing; and (3) preferences for engaging in different stages of translational genetics research. Fourteen adults who self-identified as Multiracial participated in semi-structured interviews. We used deductive coding from study aims and inductive, iterative coding to identify new themes. Participants expressed diverse ideas about what characterizes the Multiracial community, and lacked clarity on definitions. Common concerns about genetics research included the accuracy of genetics research in its application for Multiracial individuals and the limitations of research to capture their diverse backgrounds. Participants preferred to be engaged during research design, recruitment, and result interpretation and communication. Participants suggested recruiting future study participants from younger, urban regions and emphasized that this is a multifaceted heterogeneous group that cannot easily be categorized. We describe the perspectives of Multiracial individuals, who are often excluded from genetics research because their diverse social identities do not fit traditional methods of categorization. This provides a foundation for developing tailored approaches to recruit and engage Multiracial participants in genetics research, ensuring future studies better reflect human diversity.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13241369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148164984","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":"Appearance-related stigma and its implications for genetic counselling practice.","authors":"Kerry Montgomery, Diana Harcourt","doi":"10.1007/s12687-026-00905-8","DOIUrl":"10.1007/s12687-026-00905-8","url":null,"abstract":"<p><p>In an appearance conscious society, individuals with genetic conditions that affect appearance often face unique psychosocial challenges that can shape reproductive decision-making. While research has highlighted the role of stigma in shaping decision-making, little is known about how genetic counsellors perceive and address appearance-related concerns in clinical practice. This study explored the experiences of UK-based genetic counsellors working with individuals affected by congenital conditions that alter appearance, with a focus on reproductive decision-making. Using a qualitative design, six genetic counsellors across different genetic specialties were recruited and interviewed. Data were analysed using reflexive thematic analysis revealing three key themes. The first theme highlighted genetic counsellors' perceptions of how social and emotional factors (particularly guilt, shame and lived experience) influenced reproductive choices, with patients often expressing concern about passing on conditions associated with stigma. The second theme explored a perceived reluctance among patients to discuss appearance-related concerns which in turn made counsellors cautious about raising such topics. The third theme identified a need for more inclusive and accessible information and support, alongside enhanced training for counsellors in addressing appearance-related stigma. Participants emphasised the value of lived experience in shaping practice and called for greater awareness of the genetic counselling role to improve accessibility. These findings inform future training and support within genetic counselling.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13234084/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148151200","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":"Correction to: The law on voluntary termination of pregnancy in Argentina: impact on the epidemiological situation of congenital anomalies and prenatal diagnostic health services.","authors":"Pablo Barbero, Paloma Brun, Boris Groisman, María Paz Bidondo, Horacio Aiello, Marianela Trotta, Rosa Liascovich","doi":"10.1007/s12687-026-00904-9","DOIUrl":"10.1007/s12687-026-00904-9","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13222903/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148139275","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":"Parental consanguinity and the prevalence of congenital anomalies in Venezuela: a comparative analysis with the Latin American Collaborative Study of Congenital Malformations-ECLAMC.","authors":"Braulio Jatar Senior, Julián Negri, Jorge López Camelo","doi":"10.1007/s12687-026-00906-7","DOIUrl":"10.1007/s12687-026-00906-7","url":null,"abstract":"<p><p>Parental consanguinity can increase the risk of selected congenital anomalies, but its population impact depends on local marriage patterns, ancestry structure, and access to reproductive and preventive health services. We compare the prevalence of congenital anomalies in Coro (Falcón State, Venezuela) with other ECLAMC hospitals and to quantify the contribution of parental consanguinity and reproductive/sociodemographic factors to anomalies with excess prevalence in Coro. Hospital-based surveillance data from ECLAMC (2002-2024) were analyzed. Prevalence (per 10,000 births) and 95% confidence intervals were estimated for 40 anomalies among 108,380 births in Coro and 2,177,774 births in other participating hospitals. Anomalies with higher prevalence in Coro were examined using case-control analyses to estimate odds ratios, attributable risk among the exposed, and population attributable risk. To address multiple testing across 40 anomalies, P-values were additionally evaluated using the Benjamini-Hochberg false discovery rate (q = 0.05). Three anomalies showed higher prevalence in Coro: spina bifida (13.7 vs. 9.7 per 10,000), hypospadias (12.0 vs. 8.1), and postaxial polydactyly (30.5 vs. 15.8) (p < 0.01). Parental consanguinity was associated with increased risk of spina bifida and postaxial polydactyly in both settings, with a larger population attributable risk in Coro due to higher exposure frequency. In Coro, multigravidity, reduced prenatal care, and a history of fetal losses were also associated with postaxial polydactyly. Regional differences in congenital anomaly prevalence within ECLAMC partly reflect variation in parental consanguinity and reproductive factors. These findings support the integration of community genetics actions (targeted counseling, risk communication) with congenital anomaly surveillance in higher-consanguinity settings.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13222154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148102105","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":"Disputing your roots: A multi-platform computational analysis of consumer reactions to genetic ancestry testing.","authors":"Sara Behnamian","doi":"10.1007/s12687-026-00903-w","DOIUrl":"10.1007/s12687-026-00903-w","url":null,"abstract":"<p><p>Direct-to-consumer (DTC) genetic ancestry testing has grown rapidly, yet computational analysis of consumer reactions remains limited. This study presents a cross-platform computational analysis of consumer reactions to ancestry testing across 58,133 posts from Reddit, YouTube, and Google Play. We developed a six-category reaction taxonomy (acceptance, excitement, dispute, surprise, disappointment, identity crisis) and applied natural language processing methods including sentiment analysis, topic modeling, and predictive modeling. Results revealed that acceptance (9.5%) and excitement (9.4%) were most prevalent, followed by dispute (8.6%). Platform differences emerged: Reddit showed highest dispute rates (10.2%), while Google Play exhibited elevated excitement (29.6%). Dispute rates varied substantially by ancestry, with Turkish (23.5%), Greek (19.7%), and Scandinavian (18.5%) ancestries most frequently contested. Among posts containing both self-reported ethnicity and genetic results, concordance was 61.8%, quantifying the discrepancy between social and genetic definitions of ancestry. A logistic regression model predicting dispute expression achieved AUC = 0.79, identifying text length and negative sentiment as key predictors. These findings advance understanding of how consumers engage with genetic ancestry information online, with implications for DTC companies, genetic counselors, and researchers studying the social dimensions of consumer genomics.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13221540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148057448","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":"51st annual meeting of ICBDSR: data that counts - transforming lives through birth defects surveillance.","authors":"H Malherbe, E Kalk, L D Botto, C Mellado, M A Thomas, A Rissmann","doi":"10.1007/s12687-026-00901-y","DOIUrl":"10.1007/s12687-026-00901-y","url":null,"abstract":"<p><p>The 51st Annual Meeting of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) was held from 2 to 5 November 2025 in Magaliesburg, South Africa. The meeting brought together clinicians, epidemiologists, public health practitioners and researchers from 24 countries to discuss advances in the surveillance, prevention, and management of birth defects. Hosting the meeting in South Africa reflected a strategic effort to strengthen engagement with low- and middle-income countries and to expand African participation in global birth defects surveillance initiatives. Scientific sessions addressed methodological developments in surveillance systems, etiological research, and approaches to improving the interpretation and communication of surveillance data for policy and public health action. Emphasis was placed on strengthening data quality, harmonising case definitions and reporting practices across registries, and building technical capacity in emerging surveillance programmes. Contributions from African researchers highlighted both the challenges and opportunities associated with implementing surveillance in resource-constrained settings. The meeting underscored the importance of international collaboration, inclusive surveillance networks, and effective translation of data into prevention strategies and health system planning. Strengthening global surveillance remains essential for informing prevention efforts and improving outcomes for children and families affected by birth defects.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13219656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148057489","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":"Polygenic risk scores (PRS) in society. Healthcare providers and researchers' views on the public health and socio-cultural implications of PRS in healthcare contexts.","authors":"Lara Andreoli, Hilde Peeters, Kristel Van Steen, Kris Dierickx","doi":"10.1007/s12687-026-00900-z","DOIUrl":"10.1007/s12687-026-00900-z","url":null,"abstract":"<p><p>Polygenic risk scores (PRS) are increasingly positioned as precision public health tools, yet their societal implications remain contested. This study explores how healthcare providers and researchers in Europe view the broader social, cultural, and public health dimensions of PRS, beyond their clinical utility. We conducted 26 semi-structured interviews with professionals in diverse medical and research fields. Transcripts were thematically analysed to identify recurring patterns of meaning. Participants' perspectives were organized into six themes addressing: the societal implications of using PRS to inform public health prevention programs and institutional responsibilities with regard to the social determinants of diseases; equity concerns, including transferability across populations, fair distribution of benefits, and access disparities; the socio-cultural narratives-and political implications- of the shift from diagnosis to prediction in genomic medicine; ethical challenges in direct-to-consumer PRS, particularly regarding responsibility and regulation; structural barriers hindering clinical use and implementation; the need for normative frameworks guiding ethical oversight. Our findings highlight that PRS in society carry implicit assumptions about risk, responsibility, and the cultural and institutional values that shape their use and impact. While PRS may inform public health strategies, their promise to improve population health is contingent upon approaches that are ethically sensitive, attentive to societal and institutional contexts, and aligned with the specific objectives they are intended to serve within public healthcare systems.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13212869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148036376","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":"Which religious and personal characteristics predict attitudes toward gene editing? Findings from a survey of 4,939 adults in the U.S.","authors":"Erin D Solomon, Eu Gene Chin, Kari Baldwin, Lauren L Baker, James M DuBois","doi":"10.1007/s12687-026-00898-4","DOIUrl":"10.1007/s12687-026-00898-4","url":null,"abstract":"<p><p>We explored whether major religious groups' attitudes toward gene editing differ, as well as what specific religious and personal characteristics predict attitudes toward gene editing. We administered a survey to a sample of U.S. adults (N = 4939), including stratified samples of nine major religious and non-religious groups. We assessed participants' religious affiliation, beliefs, and practices, and their attitudes (i.e., support and concerns) toward gene editing. Participants generally supported gene editing but also reported moderate levels of concerns. Atheist participants reported the highest support, while Mainline Protestants reported the lowest. Muslim participants reported the highest concerns, while atheist participants reported the lowest. Views on evolution and the healthcare values of their spiritual community predicted support, while views on evolution, beliefs that one's body is a manifestation of God, and religious discrimination predicted concerns. The strongest predictors of attitudes were distrust and genetic knowledge, with higher genetic knowledge predicting lower support. While religious affiliation predicts attitudes toward gene editing, generalizations must be avoided given the range of attitudes within each group. Additionally, education alone is unlikely to increase support for gene editing. Fostering trust among religious groups is essential to ensuring that their decisions reflect their values and priorities, rather than being driven by distrust of the healthcare system. Better understanding religion's impact on attitudes toward gene editing may facilitate appropriate genetic counseling and inform policymaking efforts.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13184050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147976427","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":"Health literacy and prenatal screening acceptability for hemoglobinopathies in Tunisia: a pilot mediation study.","authors":"Foued Maaoui, Nadine Ben Saad, Eya Zarrouk, Sonia Mahjoub, Samia Menif, Imen Moumni","doi":"10.1007/s12687-026-00899-3","DOIUrl":"10.1007/s12687-026-00899-3","url":null,"abstract":"<p><p>Hemoglobinopathies remain a major public health concern in Tunisia. Effective prevention depends on informed prenatal screening, yet the role of health literacy in screening acceptability is poorly documented in North Africa. This pilot study developed and culturally adapted a 9-item health literacy questionnaire based on Nutbeam's multidimensional framework and examined its direct and indirect associations, via perceived understanding, with screening acceptability. A cross-sectional pilot study was conducted at the national referral maternity center CHU La Rabta in Tunis with 256 pregnant women aged 18-49 years. The questionnaire was rigorously adapted to Tunisian Arabic dialect through forward-back translation and cognitive debriefing with five pregnant women. Health literacy was assessed using functional, interactive, and critical subscales (1-4 Likert scale). Screening acceptability and perceived understanding to decide were also measured. Data was analyzed with descriptive statistics, reliability testing (Cronbach's α), Spearman correlations, and bootstrapped mediation analysis. Mean global health literacy was 2.70 ± 0.77 (59.8% in the \"high\" category). The 9-item scale showed good reliability (Cronbach's α = 0.826). Interactive literacy scored highest (2.95 ± 0.92), while functional (2.58 ± 0.93) and critical (2.56 ± 1.00) dimensions were lower. The analysis revealed associations consistent with partial mediation: higher health literacy was associated with screening acceptability both directly (c' = 0.438, p = 0.042) and indirectly through perceived understanding (indirect effect = 0.314, 95% CI 0.128-0.562, p < 0.001), accounting for 41.8% of the total effect. After adjustment for age, education, and residence, global health literacy remained independently associated with screening acceptability (adjusted OR = 1.55, p = 0.041). A brief, culturally adapted health literacy tool proved feasible and reliable in the Tunisian prenatal context. Higher health literacy was associated with greater screening acceptability both directly and indirectly through improved perceived understanding. These findings provide a strong empirical basis for integrating health literacy assessment and targeted literacy-enhancing interventions into Tunisia's national hemoglobinopathy prevention program.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13184013/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147965048","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}