Journal of Community Genetics最新文献

{"title":"Advancing genomic medicine in Nigeria: research progress, clinical translation and policy priorities.","authors":"Ridwanullah O Abdullateef, Dimeji A Olawuyi, Saviour G Usin, Gershom A Olajire, Abdulmujeeb D Opatola, Ridwan A Agboola, Gladys Z Ibrahim","doi":"10.1007/s12687-026-00955-y","DOIUrl":"10.1007/s12687-026-00955-y","url":null,"abstract":"<p><strong>Background: </strong>Genomic Medicine involves the comprehensive analysis of an individual's complete DNA set, the genome, to gain insights into the relationship between genes and how they influence diseases and individual responses to treatment modalities. It has created a solid foundation for advancements in precision medicine and understanding complex biological processes. One of the most groundbreaking achievements is the Human Genome Project (HGP), which was launched in October 1990, to generate a complete sequence of the human genome and identify all the genes present in it.</p><p><strong>Objective: </strong>This narrative review aims to assess the genomic medicine landscape in Nigeria and examine its prospects in the Nigerian context, including its potential public health impacts.</p><p><strong>Results: </strong>Nigeria has developed an expanding genomic research ecosystem involving pathogen surveillance, human genetics, cancer genomics, pharmacogenomics, bioinformatics and capacity-building initiatives. However, translation into routine clinical and public-health applications remains constrained by limited infrastructure, sustainable domestic financing, specialised workforce capacity, data governance systems, and access to genomic services. International collaborations have substantially contributed to infrastructure and capacity development, but long-term sustainability requires stronger domestic investment and institutionalisation.</p><p><strong>Conclusion: </strong>Due to the numerous potentials of genomic medicine in the management of diseases such as sickle cell disease, stroke, nephrotic syndrome, infectious diseases, cancer, etc., it is important that more funding is provided for research in this field. Favourable policies should also be formulated and implemented to increase genomics training opportunities, improve research participation, and promote local and international collaborations.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13652789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149148167","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":"Rare diseases, body, and stigma: a comparative analysis of people living with berardinelli syndrome and Machado-Joseph disease in Brazil.","authors":"Waleska Aureliano, Carlos Guilherme Octaviano do Valle, Jociara Nóbrega","doi":"10.1007/s12687-026-00950-3","DOIUrl":"10.1007/s12687-026-00950-3","url":null,"abstract":"<p><strong>Objectives: </strong>This article analyses how people living with rare diseases are stigmatised due to physical features and bodily alterations, considering the moral dimensions through which these differences are read. The analysis draws on research conducted in two regions of Brazil (Northeast and Southeast) with people affected by two hereditary rare conditions: Berardinelli Syndrome (BS) and Machado-Joseph Disease (MJD). We selected these conditions because of their significant bodily transformations: BS is present from birth, whereas MJD emerges in adulthood. This enabled us to examine how stigma is managed within families across the life course and identify who, beyond those directly affected, experiences its impacts.</p><p><strong>Methods: </strong>The article draws on data from two research projects conducted at different times. Both involved ethnographic fieldwork in hospitals and public events organised by patient associations, as well as in-depth interviews with patients and family members. Materials were analysed through narrative analysis.</p><p><strong>Results and discussion: </strong>Our analysis was guided by three lines of inquiry concerning the construction and perception of stigma among people living with BS and MJD: (1) recognition of the first symptoms and lay interpretations of illness, leading to encounters with genetic explanations for its causation; (2) experiences of stigma through the interplay between bodily changes and gender expectations in the context of rare disease; and (3) health activism as a mechanism for coping with stigma.</p><p><strong>Findings: </strong>Our findings reveal how the intersection of body, stigma, and identity produces moral readings of people living with rare diseases, based on the social interpretation of bodily changes brought about by these conditions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13646224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149128730","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":"Negotiating genetic risk in Indonesia: Development and psychometric evaluation of the knowledge and attitude toward consanguineous marriage instrument in a mixed-methods cross-sectional study.","authors":"Ikramina Yusti Amina, Siti Zubaidah, Hendra Susanto","doi":"10.1007/s12687-026-00952-1","DOIUrl":"10.1007/s12687-026-00952-1","url":null,"abstract":"<p><strong>Background: </strong>Consanguineous marriage can increase recessive genetic risks in offspring, yet instruments for examining genetic-risk understanding and attitudes remain limited in Indonesia. This study developed and evaluated a questionnaire assessing knowledge responses and attitudes toward consanguineous marriage in Kalimantan.</p><p><strong>Methods: </strong>In a convergent mixed-methods cross-sectional survey, 272 respondents completed ten Yes/No knowledge items with written justifications and 15 Likert-type attitude statements. Knowledge responses were examined using Rasch modeling, attitude items using exploratory and confirmatory factor analyses, and written explanations using thematic analysis. Yes-response totals were compared by gender using an independent-samples t-test and a two-way analysis of variance with parental consanguinity status.</p><p><strong>Results: </strong>Knowledge items showed stable relative item locations (item reliability = 0.98) but limited respondent differentiation (person reliability = 0.39). A ten-item, one-factor attitude model showed good fit (comparative fit index = 0.988; Tucker-Lewis index = 0.984; root mean square error of approximation = 0.047) and internal consistency (Cronbach's alpha = 0.816). Women selected more Yes responses than men (7.66 vs 7.10; p = 0.015), whereas the factorial gender main effect was not significant (p = 0.954). Written explanations combined genetic-risk reasoning with beliefs about destiny, taboo, and family expectations.</p><p><strong>Conclusion: </strong>The questionnaire provides preliminary psychometric evidence in the surveyed sample. Because the knowledge section combines factual statements, self-reported awareness, preventive endorsement, and hypothetical choice, its summed score should be interpreted as \"yes-response\" endorsement rather than a uniform count of scientifically correct answers. Further validation across populations and settings is warranted.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13642889/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116354","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":"Exploring factors that influence patient satisfaction in genetic counseling: a post-hoc qualitative analysis of perceived empathy by patients with hereditary breast and ovarian cancer in Japan.","authors":"Chikako Tomozawa, Motoko Watanabe, Hidehiko Miyake, Makoto Hirata","doi":"10.1007/s12687-026-00953-0","DOIUrl":"10.1007/s12687-026-00953-0","url":null,"abstract":"<p><strong>Background: </strong>Patient satisfaction is essential for the effective delivery and expansion of genetic counseling services in Japan, yet patients' perspectives remain underexplored. This study examined factors shaping satisfaction with cancer genetic counseling using expectation-disconfirmation theory (EDT), which conceptualizes satisfaction as the interaction between prior expectations and perceived performance, offers a useful framework for understanding these experiences.</p><p><strong>Methods: </strong>Semi-structured interviews were conducted with thirteen participants (mean age 48 ± 10 years) diagnosed with hereditary breast and ovarian cancer (HBOC) or with family members affected by HBOC. Data analysis involved inductive thematic analysis followed by conceptual and interpretative analysis within the EDT framework.</p><p><strong>Results: </strong>Two themes emerged: (i) expectations of genetic counseling and its perceived usefulness, and (ii) trust in medical staff cultivated through the follow-up process. When counseling met or exceeded expectations, participants recalled empathic care positively, whereas unmet expectations diminished recall of empathic elements. Trust built through sustained interactions contributed to satisfaction regardless of whether expectations were fulfilled. Participants valued repeated, informal encounters -such as conversations during blood draws or frequent check-ins-which conveyed compassion beyond the formal counseling session.</p><p><strong>Conclusion: </strong>Satisfaction with genetic counseling is shaped by expectation confirmation or disconfirmation and by trust established through long-term relationships with healthcare providers. While EDT explains part of this process, a complementary framework emphasizing interpersonal care and implicit hospitality may better account for satisfaction in cases of negative disconfirmation. These findings highlight the importance of clear communication regarding the scope of genetic counseling and suggest that integrating opportunities for ongoing patient-provider interactions may enhance genetic service delivery.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13638918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149116326","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":"Strengthening legal safeguards against genetic discrimination: review and recommendations for Malaysia.","authors":"Motharasan Manogaran, Syahrilnizam Abdullah, Raha Abdul Rahim, Yusuf Muhammad Noor, Bin Alwi Zilfalil","doi":"10.1007/s12687-026-00937-0","DOIUrl":"10.1007/s12687-026-00937-0","url":null,"abstract":"<p><p>The increased pace of genomic research and precision medicine on a global scale has heightened the risk of genetic discrimination and underscored the critical importance of genetic data protection. Leading jurisdictions, including the U.S., the European Union, Japan, China and Hong Kong among others, have enacted laws as solution to these issues. These regulations explicitly outlaw the misuse of genetic information in insurance, employment, or health-related domains in addition to robust data protection measures, which include defined opt-in requirements and proper governance by auditors and ethics committees. Malaysia, however, is yet to have legal safeguards specifically against genetic discrimination, currently relying on general data protection laws that does not explicitly classify genetic information as sensitive or protected data, thus making it vulnerable to discriminatory misuse. This gap has implications towards the general population, especially with the rise of genetic testing in healthcare and large-scale genomics studies. This review examines existing international legal guidelines and policy infrastructure relevant to genetic discrimination and genetic data governance, through which key mechanisms of anti-discrimination legislation, data privacy schemes, and bioethics criteria are identified. The consistently repeated tenets such as explicit prohibitions on discriminatory uses of genetic data, expanded safeguards and strong supervisory mechanisms, when applied to the Malaysian context, serve as a legislative blueprint for the country to establish its own framework in preventing genetic discrimination, addressing current protection gaps, and governing genetic data in the spheres of research, insurance, employment, and commercialisation.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13624217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149082491","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":"Considering seriousness in preconception carrier screening: a framework to support policy deliberation.","authors":"Erika Kleiderman, Anne-Marie Laberge, Lisa Dive, Vardit Ravitsky, Bartha M Knoppers, Felicity Boardman","doi":"10.1007/s12687-026-00944-1","DOIUrl":"10.1007/s12687-026-00944-1","url":null,"abstract":"<p><strong>Background: </strong>The seriousness of a genetic condition has long been a central consideration in population-based screening programs. Yet, despite its widespread use in policy and practice, \"serious\" remains an ill-defined and multi-faceted concept. This lack of definitional clarity, complexity, and absence of guidance around how to interpret the concept has led to inconsistencies in application in policy and practice.</p><p><strong>Objective: </strong>In this article, we use the example of preconception carrier screening (PCS) to expand on the procedural elements of our conceptual framework for considering seriousness and lay out questions to help guide and structure deliberations about gene panel composition in the context of PCS.</p><p><strong>Main content: </strong>We argue that traditional attempts to operationalize seriousness, while useful, are insufficient for capturing the concept's complexity in population-based interventions. Instead, our framework - by integrating clinical, contextual, and experiential dimensions - encourages deliberation that reflects and is responsive to the diverse values and needs of communities affected by genetic conditions.</p><p><strong>Conclusions: </strong>By fostering a balanced and context-sensitive approach, our framework offers a conceptual tool to help policymakers navigate the ethical complexities of PCS and support the development of PCS programs that are ethically defensible, socially responsible, and are aligned with the goals of community genetics.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13615949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149065007","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":"A novel TYR variant implicated in oculocutaneous albinism type 1 (OCA1): a study in an indigenous population in Southern Brazil.","authors":"Paulyana Corecco-Moura, Laércio Moreira Cardoso-Júnior, Osvaldo Alfonso Pinto Artigalás, Fernanda Sales Luiz Vianna, Ana Paula Pedroso Junges, Renan Rangel Bonamigo, Carmem Rafael Sales, Guilherme Ladwig Tejada, Patricia Ioschpe Gus, Luana da Silva Kaingang, Leocir Muller Ribeiro, Daniel Fernando Campos Sales, Daniela Sales Kaingang, Ana Paula Ornaghi, Marcia Holsbach Beltrame, Lavínia Schüler-Faccini","doi":"10.1007/s12687-026-00948-x","DOIUrl":"10.1007/s12687-026-00948-x","url":null,"abstract":"<p><strong>Background: </strong>Oculocutaneous albinism (OCA) is a genetic condition with an estimated global prevalence of 1 in 17,000, though this varies across populations. The Kaingang are a Brazilian Indigenous group belonging to the Macro-Jê language family.</p><p><strong>Objective: </strong>Report a novel variant TYR:c.704A>G; p.Tyr235Cys in homozygosity among individuals of Kaingang ethnicity in the state of Rio Grande do Sul, Brazil.</p><p><strong>Methods: </strong>A commercial next-generation sequencing (NGS-based) panel for hypopigmentation and oculocutaneous albinism was applied to one saliva sample; exome sequencing (ES) was performed using NGS in another individual; and the remaining 14 individuals were genotyped by quantitative real-time (qPCR).</p><p><strong>Results: </strong>The detection of this variant in 14 individuals from the same Indigenous Territory, within an estimated population of 6,000, yields an allele frequency of 0.05, suggesting a founder effect in this population.</p><p><strong>Discussion/conclusion: </strong>The affected individuals were not closely related, suggesting that the recurrence of the variant is not due to recent consanguinity but rather to population structure and inheritance from a common ancestor. In addition, NGS and ES have proven essential for accurate diagnosis of oculocutaneous albinism and for molecular reclassification of cases previously diagnosed clinically. This study contributes to understanding the molecular profile of albinism in Brazilian Indigenous populations, sheds light on historically underrepresented communities in genetic research and has the potential to inform targeted interventions and public health policies for individuals with albinism in these communities.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13612799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149041139","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":"Your DNA, your concerns: public attitudes toward donation of genomic data for research in four Latin American countries.","authors":"Antonella Romero-Ramírez, Ronald Alfaro-Redondo, Gabriel Macaya-Trejos, Richard Milne, Lauren Robarts, Anna Middleton, Henriette Raventós, Gabriela Chavarría-Soley","doi":"10.1007/s12687-026-00947-y","DOIUrl":"10.1007/s12687-026-00947-y","url":null,"abstract":"<p><strong>Background: </strong>\"Your DNA, Your Say\" (YDYS) is an anonymous online survey covering attitudes towards genomic and medical data sharing for research purposes. This study aims to identify factors influencing willingness to donate genetic information in Latin America and explore concerns regarding data donation.</p><p><strong>Methods: </strong>Responses to the YDYS survey were collected using a mixed recruitment strategy for participants in Argentina (N = 919), Brazil (N = 1,349), Costa Rica (N = 469), and Mexico (N = 1,347). The survey assessed willingness to donate genetic and medical data, perceptions regarding third-party access, use and disclosure of such data, levels of trust, and concerns about potential harms resulting from loss of anonymity. Sociodemographic information was also collected. Three indexes-Willingness to Donate, Know Me, and Against Me-were constructed, and regression analyses were conducted to examine associations between sociodemographic variables and these measures.</p><p><strong>Results: </strong>Willingness to donate data is higher when profit is not involved. Concerns measured by the \"Know Me\" index are lower among women and individuals with a high willingness to donate, and higher for individuals with tertiary education. For the \"Against Me\" index, concern decreases with age and willingness to donate, and increases for people that have children, are religious, and have university education. In general, young age, having children, tertiary education level, and showing reduced levels of concern are associated with a higher willingness to donate genetic information.</p><p><strong>Conclusions: </strong>This is one of the first studies exploring attitudes toward genetic data sharing in Latin America. This knowledge can guide strategies to ensure inclusion and diversity in future genetic studies.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13612384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149041142","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":"Living in a genetic penumbra: navigating uncertainty and morality.","authors":"Jonathan Henry, Pamela Sankar, Puneet K C Sahota","doi":"10.1007/s12687-026-00945-0","DOIUrl":"10.1007/s12687-026-00945-0","url":null,"abstract":"<p><strong>Background: </strong>Genetic tests are not available for many polygenic illnesses, and there is a lack of research on how individuals navigate this uncertainty.</p><p><strong>Objective: </strong>This study examines how users of Reddit communities (\"subreddits\") dedicated to bipolar disorder, a commonly stigmatized condition, make sense of an unknown amount of genetic risk through analysis of online discussions on Reddit.</p><p><strong>Methods: </strong>Threads from the two largest bipolar disorder-focused subreddits (with n members = 223,000 and 90,000) were utilized; a web scraper was used to identify relevant threads, which were then systematically coded using thematic analysis.</p><p><strong>Results: </strong>Reddit users overall agreed bipolar disorder had a genetic component, but the lack of certainty around the amount of genetic risk resulted in intense debates about having children. The morality of having children when one has bipolar disorder, as well as whether a life with bipolar disorder is worth living, were prominent themes.</p><p><strong>Conclusion: </strong>Early social science posited that knowledge of illness heritability would be empowering, but the results presented here show a more complex picture. \"Genetic penumbra\" offers a new concept to explicate how individuals make sense of genetic risk while living under the shadow of genetic uncertainty.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13594054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149018174","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":"Genetic literacy assessment among medical students using the Indonesian adaptation of the University of North Carolina Genomic Knowledge Scale.","authors":"Rahmat Azhari Kemal, Rahma Dhani, Arya Marganda Simanjuntak, Arimbi Indhira Rafles, Hana Xaviera Triani, Triyanda Miftahur Rahmi, Vinndi Azriel Akbar, Firdaus, Bayu Fajar Pratama, Zulharman","doi":"10.1007/s12687-026-00940-5","DOIUrl":"10.1007/s12687-026-00940-5","url":null,"abstract":"<p><strong>Background: </strong>Implementation of personalized medicine requires greater genetic literacy among current and future healthcare workers. A standardized Indonesian-language genetic literacy questionnaire is essential for assessment.</p><p><strong>Objective: </strong>To translate the University of North Carolina Genomic Knowledge Scale (UNC-GKS) genetic literacy questionnaire into Indonesian language, assess its qualitative content validity and internal consistency, and utilized it to measure genetic literacy among Indonesian medical students.</p><p><strong>Methods: </strong>Following expert panel review and back-translation for translational accuracy and conceptual appropriateness, the questionnaire was pre-tested among 13 preclinical medical students at a public university for comprehensibility and among a separate group of 34 students for internal consistency. The Indonesian UNC-GKS questionnaire was then administered to 486 medical students from a public university comprising 228 preclinical medical students, 187 clerkships, and 71 residents.</p><p><strong>Results: </strong>The Indonesian version of UNC-GKS showed qualitative content validity as well as good reliability (α = 0.809). Among all students, 56.2% demonstrated moderate overall genetic literacy, and only 14.8% demonstrated good overall literacy. Basic genetic concepts were relatively well-understood (54.1% good literacy). On the contrary, gene variant's effects on health were poorly understood (9.5% good literacy). Inheritance concepts were moderately understood (24.5% good literacy).</p><p><strong>Conclusion: </strong>The Indonesian UNC-GKS questionnaire has a good internal consistency making it a reliable genetic literacy assessment tool. Using the questionnaire, we observed predominantly moderate genetic literacy levels in medical students. Further psychometric validation will support broader use of the questionnaire in research and curriculum evaluation. Strengthening genetics education in Indonesian medical schools will support the implementation of personalized medicine in Indonesia's healthcare system.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13582748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148983188","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}