Journal of Community Genetics最新文献

{"title":"Organization of the first national workshop for families in Switzerland concerned with hereditary cancer syndromes.","authors":"Sarah Glick, Monica Aceti, Claire M Barton, Bettina M Zimmermann, Lisa Schiess, Muriel Fluri, Andrea Kaiser-Grolimund, Carla Pedrazzani, Elissa Azzi, Arianna Maria Elena Bonfanti, Barbara Peters, Benjamin Thiele, Pierre O Chappuis, Maria Caiata-Zufferey, Maria C Katapodi","doi":"10.1007/s12687-026-00960-1","DOIUrl":"https://doi.org/10.1007/s12687-026-00960-1","url":null,"abstract":"<p><strong>Background: </strong>Although Patient and Public Involvement (PPI) workshops with families affected by hereditary cancer predisposition syndromes can benefit both affected individuals and their support networks, PPI workshops are rarely being organized. This article presents the planning and implementation of a one-day PPI workshop for families affected by Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) in Switzerland.</p><p><strong>Workshop design & implementation: </strong>The event was funded by the Swiss National Science Foundation and planned over a 12-month period. The program included expert sessions presented by clinicians and researchers; moderated, small-group participatory exchanges exploring patients' and families' unmet health, psychosocial and educational needs; and interactions with patient advocates. Participant satisfaction surveys were analyzed using descriptive statistics.</p><p><strong>Results: </strong>One hundred and five adults attended the workshop in Bern in May 2025, with representation from the three major linguistic regions of Switzerland. Almost 75% of participants reported a personal genetic predisposition to cancer. Most respondents were very satisfied or satisfied with the workshop (92%), and nearly all (96%) found the presentations engaging, with the topic of immunotherapy as an emerging treatment rated highest. The participatory exchange sessions were the most valued component of the workshop overall (97% positive feedback).</p><p><strong>Conclusions: </strong>We provide proof of concept for the feasibility and positive impact of organizing a national workshop for families affected by HBOC and LS. The participatory nature of the workshop allowed affected individuals and their support networks to communicate unmet needs related to their personal experiences and suggest future avenues for research.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 6","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225239","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":"Community-based behavioral change interventions to reduce the burden of inherited genetic disorders in low- and middle-income countries (LMICs): a scoping review.","authors":"Seema Lasi, Muhammad Asim, Javeria Tariq, Sada Zainab, Sana Liaquat, Afsar Uddin, Sehrish Haider, Kausar Waqar, Ayesha Zahid Khan, Nick Brown, Salman Kirmani","doi":"10.1007/s12687-026-00963-y","DOIUrl":"https://doi.org/10.1007/s12687-026-00963-y","url":null,"abstract":"<p><strong>Background: </strong>Genetic and congenital disorders related to consanguineous marriage are a major cause of morbidity and mortality in regions where cousin marriages are common. Their burden may be reduced through community education and awareness, but evidence for a consistently effective means of implementing is sparse. Our aim is to review the published literature and to describe behavioral change approaches that have been used to reduce the burden of inherited genetic disorder in highly consanguineous communities.</p><p><strong>Methods: </strong>A scoping review based on PRISMA guidance, utilizing methodological framework outlined by Arksey and O'Malley was conducted. A systematic search was done across multiple electronic databases for literature published between 2000 and 2024. Studies related to community-level intervention targeting behavior, knowledge and attitudes related to continuity and genetic disease prevention in relevant LMIC settings were included.</p><p><strong>Results: </strong>We found nine papers fulfilling our priori search criteria, 6 from South and Southeast Asia and one each from the Middle East, West Africa and North Africa. Overall, the methodological quality of the included studies ranged from low to high, with MMAT scores spanning 40% to 100%. All involved short-term education and counselling sessions aimed at young couples, high school-age adolescents and community members. The majority were haemoglobinopathy targeted. Overall, the included studies reported positive effects of educational, counseling, and integrated behavioral interventions on increasing knowledge about genetic screening, testing, and genetic diseases.</p><p><strong>Conclusion: </strong>Community-based interventions show promise in improving awareness of consanguinity-related genetic risks in LMIC settings, particularly when culturally adapted and embedded within trusted community platforms. However, evidence remains limited regarding their effectiveness in achieving sustained behavioral change.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 6","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225045","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":"Addressing stigma in differences in sex development: twenty years of community genetics practice by the Sudanese Intersex Working Group (SIWG).","authors":"Rayan Khalid, Abdelrahman A Abudoam, Abdel Bagi Alzain, Imad Fadl-Elmula","doi":"10.1007/s12687-026-00951-2","DOIUrl":"https://doi.org/10.1007/s12687-026-00951-2","url":null,"abstract":"<p><strong>Background: </strong>Genetic diagnosis in differences in sex development (DSD) intersects profoundly with social, cultural, and institutional stigma, particularly in settings where consanguinity, traditional gender norms, and limited genetic literacy converge.</p><p><strong>Objective: </strong>To examine how the Sudanese Intersex Working Group (SIWG) identifies and mitigates DSD-related stigma across the life course through two decades of community-embedded practice.</p><p><strong>Methods: </strong>This Short Communication synthesizes longitudinal clinical, psychosocial, and advocacy experience from the SIWG, a multidisciplinary initiative that has provided care to individuals and families across Sudan and neighboring regions since 2006.</p><p><strong>Results: </strong>Longitudinal practice reveals that stigma manifests through delayed presentation, inappropriate sex assignment at birth, and culturally driven practices such as female genital mutilation (FGM) in individuals with a 46,XY karyotype who were misassigned female at birth. SIWG's integrated model addresses these challenges through stigma-informed genetic counselling, culturally and religiously informed ethical framing, legal-psychosocial advocacy, community mobilization, and research contributions that advance international DSD knowledge through novel mutation discovery.</p><p><strong>Conclusion: </strong>DSD-related stigma is a modifiable social determinant. Community genetics must operate beyond clinical silos, offering a replicable, stigma-informed framework for equitable care in resource-limited African settings.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 6","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220954","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":"Confronting stigma in neurogenetic diseases in Tanzania: a clinician - informed narrative.","authors":"Mohamed Manji, Mohamed Zahir Alimohamed, Marieke C J Dekker","doi":"10.1007/s12687-026-00956-x","DOIUrl":"https://doi.org/10.1007/s12687-026-00956-x","url":null,"abstract":"<p><strong>Background: </strong>Genetic diagnoses can reduce diagnostic uncertainty but may also intensify stigma, particularly where neurogenetic disorders carry strong social and spiritual meanings. In Tanzania, access to genetic testing remains limited, and diagnoses are often established through available testing combined with compelling clinical evidence.</p><p><strong>Methods: </strong>Grounded in the Health Stigma and Discrimination Framework and informed by clinical and research experience in Tanzania, this clinician-informed narrative examines stigma associated with neurogenetic disorders.</p><p><strong>Results: </strong>The article identifies drivers, facilitators, intersecting stigmas, manifestations, and outcomes of stigma in neurogenetic conditions. It operationalizes the framework for low-resource settings and highlights how cultural beliefs, limited genetic literacy, health-system gaps, gender norms, disability stigma, and socioeconomic vulnerability can shape families' experiences.</p><p><strong>Conclusion: </strong>Context-sensitive strategies across clinical, institutional, and community levels are needed to mitigate stigma. Applying the framework can support more equitable, dignified, and culturally responsive neurogenetic care in Tanzania.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 6","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220925","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":"Screening for beta thalassemia trait in a heterogeneous university-based population in Delhi-NCR, India.","authors":"Oishi Choudhury, Kallur Nava Saraswathy, Ashutosh Lal, Reena Das, Ravi Ranjan, Roumi Deb, Jatinder Singh Arora, Naorem Kiranmala Devi","doi":"10.1007/s12687-026-00958-9","DOIUrl":"https://doi.org/10.1007/s12687-026-00958-9","url":null,"abstract":"<p><strong>Background: </strong>Thalassemia is a major monogenic blood disorder, with India bearing a substantial burden. Although carrier screening is the most effective preventive strategy, inconsistent criteria, borderline HbA2 values, diverse mutations, and limited HbE detection hinder effectiveness. This study determines the prevalence of molecularly confirmed beta thalassemia trait (BTT) and HbE detected through a large-scale screening approach among young adults in Delhi-National Capital Region (NCR) and develops a potential scalable model for university-based carrier detection.</p><p><strong>Methods: </strong>We recruited 4886 young adults aged 18-35 years from universities in Delhi-NCR. All blood samples underwent CBC and HPLC analysis, with selected samples subjected to genetic analysis using ARMS-PCR and Sanger sequencing.</p><p><strong>Results: </strong>The prevalence of molecularly confirmed BTT and HbE trait detected through the study screening approach was 1.6% and 0.4%, respectively. Overall, 2% showed elevated HbA2 with low MCV and MCH, while 5.1% of carriers had borderline HbA2. Five common beta thalassemia mutations accounted for 84.8% of cases. Nearly 21% of samples with HbA2 4-9% showed no mutations on genetic testing. HbA2 4-9% plus low MCV and MCH showed the highest PPV, with 92% sensitivity and 88% specificity. No significant differences in BTT distribution were observed by region, religion, or social category.</p><p><strong>Conclusions: </strong>Large-scale screening for BTT among young adults in university-based settings may facilitate early carrier identification. HbA2 levels of 4-9% combined with low MCV and MCH appear to be an effective first-tier screening criterion, while further criteria are needed to identify and prioritize individuals with borderline HbA2 levels (3.2-3.9%) for molecular confirmation. Future studies should focus on developing and validating robust, context-appropriate population-level screening protocols for BTT in India.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 6","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149220957","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":"Macronutrient and micronutrient requirements in sickle cell disease across age groups: a narrative review.","authors":"Sarbasree Bhattacharjee, Jarina Begum, Ranjitha S Shetty, Syed Irfan Ali, Gaurav Kumar Roy","doi":"10.1007/s12687-026-00959-8","DOIUrl":"https://doi.org/10.1007/s12687-026-00959-8","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) is a hereditary haemoglobinopathy characterised by chronic haemolysis, inflammation, oxidative stress, and increased metabolic demands. Nutritional deficiencies worsen disease severity, growth, immunity, and quality of life, but evidence on age‑specific needs is fragmented. This narrative review synthesises current evidence on macronutrient and micronutrient requirements, deficiencies, and interventions in SCD across age groups.</p><p><strong>Methods: </strong>A structured literature search was conducted in PubMed, Scopus, and Google Scholar (January 2000-March 2025). Original studies evaluating nutritional status or interventions in confirmed SCD were included.</p><p><strong>Results: </strong>Individuals with SCD are in a hypermetabolic state with elevated energy and protein requirements. Common micronutrient deficiencies include vitamin D (prevalence 56.2% in children, 75.5% in adults), zinc, vitamin B12, folate, and vitamin C. Zinc deficiency is associated with more vaso‑occlusive crises, infections, delayed growth, and hospitalisations. Omega‑3 fatty acids, L‑arginine, glutamine, zinc, and vitamin D supplementation show potential benefits in reducing pain severity, vaso‑occlusive events, inflammation, and hospital admissions, while improving growth, endothelial function, and quality of life. However, the certainty of the evidence is low to very low due to small sample sizes and heterogeneous methods; adult‑specific data are particularly scarce.</p><p><strong>Conclusion: </strong>Major gaps remain in standardised dietary recommendations and supplementation protocols. Large, high‑quality randomised controlled trials are urgently needed to establish evidence‑based nutritional guidelines for SCD.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 6","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149225104","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":"Structured postmortem genetic counselling and testing in sudden unexplained death among young adults in the Netherlands: results and implications regarding hereditary risk.","authors":"Tess M Wemeijer, Leonie A Verbaan, Wilma L J M Duijst, Yvonne M Hoedemaekers, Imke Christiaans","doi":"10.1007/s12687-026-00946-z","DOIUrl":"10.1007/s12687-026-00946-z","url":null,"abstract":"<p><strong>Introduction: </strong>Sudden unexplained death (SUD) in young adults may result from hereditary cardiovascular disorders that remain undetected even after conventional autopsy. Routine postmortem genetic testing may identify these disorders, improving determination of the cause of death while providing diagnostic and preventive opportunities for surviving blood relatives.</p><p><strong>Methods: </strong>Between September 2022 and October 2025, 100 cases of SUD in young adults in the Netherlands were investigated using the NODOV (Nader Onderzoek naar de DoodsOorzaak bij (jong)Volwassenen) procedure. Genetic counselling was offered to surviving blood relatives in 50 cases where conventional autopsy findings suggested an inherited cardiovascular disorder. Conventional autopsy findings, medical history and family history guided phenotype-directed genetic testing using targeted gene panel analysis following whole-exome/genome sequencing.</p><p><strong>Results: </strong>Genetic testing was successfully performed in 46 out of 50 cases and identified pathogenic variants in six cases involving the CACNA1C, BAG3, MYBPC3, LDL-R, KCNJ2, and PKD1 genes. Pretest genetic counselling proved important in guiding genetic testing in 10% of all cases and 50% of genetically confirmed cases. Pathogenic variants were identified in both structurally abnormal and autopsy-negative cases. Families received tailored genetic counselling and recommendations for clinical follow-up based on predictive genetic testing. Among the 44 families without a genetic diagnosis, 43 were advised to undergo clinical cardiovascular screening.</p><p><strong>Conclusion: </strong>This study highlights the importance of a structured multidisciplinary postmortem investigation, such as the NODOV procedure, integrating pretest genetic counselling and tailored postmortem genetic testing. This approach may improve determination of cause of death (particularly in autopsy-negative cases), aid in the identification of hereditary cardiovascular disorders and facilitate preventive strategies for at-risk blood relatives.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 6","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13676581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149216992","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":"Genomic medicine knowledge, self-assessment, and training needs among Turkish pediatricians: a cross-sectional survey.","authors":"Serdar Bozlak, Cüneyd Yavaş","doi":"10.1007/s12687-026-00962-z","DOIUrl":"10.1007/s12687-026-00962-z","url":null,"abstract":"<p><strong>Background: </strong>The integration of genomic medicine into clinical practice has become increasingly important for frontline clinicians. Pediatricians represent a particularly important group, as they routinely encounter patients with suspected genetic conditions. However, data on genomic knowledge among pediatricians in Turkey - a country with unique epidemiological and healthcare characteristics - remain scarce.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted between February 10 and March 10, 2026 via Google Forms among 266 pediatricians at various career stages (residents, specialists, subspecialty trainees/specialists, and academics). The survey comprised a demographic section, four Likert-type self-assessment items, and 15 objective knowledge questions. Statistical analyses included the Shapiro-Wilk normality test, Kruskal-Wallis and Mann-Whitney U tests, chi-square test, one-way ANOVA with Tukey HSD post-hoc analysis, Dunn test with Bonferroni correction for non-parametric comparisons, and Spearman correlation analysis.</p><p><strong>Results: </strong>The mean knowledge score was 8.67 ± 2.99 out of 15 (57.8%). Mean subscores were 59.8% for basic clinical genetics and 53.8% for advanced genomic therapies, with low-scoring items in both domains. Professional title (H = 34.29, p < 0.001), years of experience (H = 23.70, p < 0.001), and structured genetics training (Mann-Whitney U, p < 0.001) were significantly associated with knowledge scores; in multivariable analysis, title and training, but not experience, remained associated. Overall, 51.5% of participants reported never having received structured genetics education. Knowledge scores did not differ by gender (p = 0.647). Genetics training was associated with genetic test-ordering frequency(χ²=15.46, p = 0.004).</p><p><strong>Conclusions: </strong>Turkish pediatricians showed moderate knowledge of the genomic topics assessed, with gaps in both basic and advanced topics. Structured genetics education was associated with higher knowledge scores and more frequent genetic test ordering, although the cross-sectional design precludes causal inference. These findings support developing and evaluating targeted genomic education for pediatricians.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13661858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149185081","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":"Implementing genetic counselling supervision in southwestern Europe: the MAG-SUDOE programme.","authors":"Milena Paneque, Lídia Guimarães, Ane Sagardia, Inês Costa, Fernando Alvira-Iraizoz, Maria Tubío-Fungueiriño, Nelly Dewulf-Pasz, Pauline Villa, Maria A Ramos-Arroyo, Montse Fernández-Prieto","doi":"10.1007/s12687-026-00949-w","DOIUrl":"https://doi.org/10.1007/s12687-026-00949-w","url":null,"abstract":"<p><strong>Background: </strong>Advances in medical genetics and the expansion of personalized medicine have made genetic counselling essential. The increasing workload of genetics professionals highlights the need for strategies that strengthen the services resilience. Genetic counselling supervision (GCS) is a structured routine of reflective practice that promotes safe practice, prevents burnout, and prepares professionals to adapt to new challenges, while supporting continuous improvement. However, GCS practices vary widely between countries: in many, these are not even known, while in others they are mandatory. This inequality results from the asymmetrical development of the genetic counselling profession globally. Spain, France, and Portugal have specialized training in this area, but only France has formally recognised the profession. Consequently, there is a small and geographically dispersed number of professionals, mostly without GCS access.</p><p><strong>Objectives: </strong>Here we report how the MAG-SUDOE programme proposes a pioneering solution to jointly implement GCS and to strengthen the resilience of genetics services in southwestern Europe through activities linked to: 1) transferring experience from a Portuguese pilot action assessing the feasibility of a GCS programme; 2) jointly developing a transnational GCS intervention with genetics healthcare professionals of the three countries; and 3) designing a common strategy for its further implementation in the territory.</p><p><strong>Methods: </strong>A transnational collaborative project have been implemented. A joint intervention was designed and will served as empirical base for the definition of national strategies for the implementation of GCS in the three countries.</p><p><strong>Results: </strong>Fostering institutional alignment between genetic counselling professional bodies and lead consortia members, this project establishes a foundation to promote GCS on a transnational scale and generate evidence to guide health policy decisions for a more equitable and high-quality health system.</p><p><strong>Discussion/conclusion: </strong>The programme is currently being implemented across the three countries through supervision groups with high engagement among participants.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13653888/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149170230","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":"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}