Journal of Community Genetics最新文献

{"title":"Social stigma, genetic services, and South Africa: is testing taboo?","authors":"Caitlin Ching Sent, Brendon Pearce","doi":"10.1007/s12687-026-00893-9","DOIUrl":"https://doi.org/10.1007/s12687-026-00893-9","url":null,"abstract":"<p><p>Genetic testing and counselling are invaluable tools for preventative and personalised care. Unfortunately, utilisation of these services in South Africa, and continental Africa more broadly, has been limited. South Africa, which suffers from a unique epidemiological state, offers these genetic services, but accessibility is limited, as is education around this topic. Furthermore, coupled with the previous limitations, there is a prevalent distrust of the healthcare system and the stakeholders involved therein. This is largely due to the sociopolitical history of the country, which has resulted in severe economic inequalities and racial marginalisation of majority population groups. To effectively reduce the disease burden that South Africa is currently experiencing, it is necessary to increase the accessibility and uptake of these services, particularly genetic testing. While geographic and financial barriers could be tackled governmentally, other barriers, such as stigma towards genetic testing, Westernised medicine in general, and those that provide it, need to be investigated before investing valuable resources into infrastructure. Understanding these barriers would provide critical insight into the demand for genetic testing and how uptake and motivation could be improved. This narrative review discusses potential barriers to uptake and consumer demand in South Africa, and concludes by tying all identified barriers into an overarching concern regarding stigma (particularly intersectional stigma) related to genetic testing in a South African context. By doing so, we identify several key information gaps that future research could fill.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147844506","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":"How parents and community care professionals use a genetic diagnosis to inform care: expanding the concept of utility.","authors":"Amy A Lemke, Katelyn C McNamara, R Jean Cadigan, Roselle Ponsaran, Aaron J Goldenberg, Carla A Rich, Candice R Finnila, Gregory M Cooper, Kyle B Brothers","doi":"10.1007/s12687-026-00891-x","DOIUrl":"10.1007/s12687-026-00891-x","url":null,"abstract":"<p><p>Research on genomic testing outcomes for children with neurodevelopmental conditions often emphasizes clinical and personal utility, but rarely considers how a genomic diagnosis impacts care from non-physician community-based professionals such as those in private practice, early intervention, or school settings. Therefore, this study explored how caregivers and community care professionals use a genomic diagnosis to inform care. Semi-structured interviews were conducted with 23 caregivers of children with a genomic diagnosis and 30 community care professionals providing care to the child. Directed and summative content analysis was performed. Reported impacts included (1) improved care provision, (2) informed future planning, (3) enhanced social and community support, (4) enhanced understanding, (5) increased access to therapy-related services and equipment, (6) improved service quality and 5) elevated patient advocacy and engagement. Potential disutility arose from limited diagnostic information, provider knowledge gaps, insurance denials, and provider fear of treating rare conditions. A key neutral/mixed finding was that the diagnosis did not always impact care. Barriers to potential utility included financial burden, confusion about next steps, provider knowledge gaps, and lack of evidence-based guidance for rare diagnoses. Findings highlight that caregivers and community professionals may experience impacts from a genomic diagnosis (positive, negative, or neutral) that are understudied in empirical research, potentially because traditional concepts of utility fail to incorporate these domains. Broadening this conceptual framing could inform empirical research focused on identifying these effects and informing potential interventions. Further work is needed to characterize and quantify genomic test utility and disutility across diverse contexts.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13149733/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147844467","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":"Knowledge and perceptions of pharmacogenomics and personalized medicine among pharmacy students in Gujarat: a cross-sectional survey.","authors":"Bhumika Maheriya, Kashyap Thummar, Sanjay Chauhan","doi":"10.1007/s12687-026-00894-8","DOIUrl":"10.1007/s12687-026-00894-8","url":null,"abstract":"<p><p>Pharmacogenomics (PGx) plays an important role in personalized medicine by explaining genetic variability in drug response and enabling personalized therapy. Although global efforts have integrated PGx into pharmacy curriculum, in India structured education and training regarding PGx still remain limited. Understanding pharmacy students' knowledge, perceptions, and attitudes toward PGx is essential for preparing the future workforce for clinical application in healthcare area. A cross-sectional questionnaire-based survey was conducted among undergraduate and postgraduate pharmacy students at the School of Pharmacy, Gujarat Technological University, Gandhinagar, India, in July 2025. Participants were recruited using a convenience sampling approach, and the survey was administered online via google form using a structured and validated questionnaire. The instrument assessed demographic characteristics, knowledge of pharmacogenomics, attitudes toward its clinical application, and sources of information. Data were analysed using SPSS version 25. A total of 200 pharmacy students participated in the survey. Most students demonstrated good conceptual knowledge of pharmacogenomics, with 92.5% correctly identifying PGx as the study of gene-drug interactions and 82.5% recognizing its role in reducing adverse drug reactions. However, awareness of practical aspects was limited: only 38.5% were aware of pharmacogenomic guidelines such as CPIC, PharmGKB, FDA labelling, and 29% reported prior formal instruction on pharmacogenomics in their curriculum. Despite these knowledge gaps, students expressed highly positive attitudes toward pharmacogenomics. Correlation analysis showed a weak to moderate positive association between knowledge and attitude scores (r = 0.37, p < 0.01), indicating that higher knowledge levels were associated with more favourable attitudes toward pharmacogenomics. This study showed that pharmacy students of Gujarat has a strong conceptual understanding of pharmacogenomics and recognizing its role in gene-drug interactions and the reduction of adverse drug reactions. However, awareness was limited which strongly indicates a gap between theoretical knowledge and practical application. Overall it highlights both existing knowledge of students and the need to enhance practical applicability of pharmacogenomics for the future integration of personalized medicine into clinical practice.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13139554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147822012","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 in the Turkish-Cypriot community: a nationwide study.","authors":"Behich Koyutourk, Mahmut Cerkez Ergoren","doi":"10.1007/s12687-026-00890-y","DOIUrl":"https://doi.org/10.1007/s12687-026-00890-y","url":null,"abstract":"<p><p>Minor or genetically isolated populations like Turkish-Cypriots (TC) are usually challenging to diagnose and treat for uncommon genetic diseases. TC may exhibit several patterns of unusual genetic disorders based on their unique historical and demographic conditions. The objective of the current study is to identify and investigate the rarest genetic disorders in TC patients. Therefore, between 2019 and 2025, clinical and genetic data, which were confirmed by gene panels and exome sequencing, from 150 TC patients were retrospectively analysed in our clinic. Also, inheritance models and variant types were classified and contrasted. Out of 150 patients, 123 different rare diseases were discovered. Observed in 10 cases (6.7%), neurofibromatosis (type 1) was the most common of these, trailed by spinal muscular atrophy in 6 cases (4%), phenylketonuria in 6 cases (4%), and episodic kinesigenic dyskinesia type 1 in 4 cases (2.7%). Importantly, 114 of the discovered diseases (76%) were observed in only one patient, indicating a vast spectrum of ultrarare or single-case conditions within the group. Autosomal dominant was the most prevalent mode of inheritance; other types also present were autosomal recessive and mitochondrial inheritance. The recurrence of particular gene pathogenic variants in a group of patients may suggest a potential founder effect; however, further population-based haplotype studies are required to confirm this hypothesis within the TC population. The results demonstrate an overrepresentation of particular neurogenetic syndromes and underline the necessity of targeted screening procedures and population-dependent databases to maximise diagnostic yield and genetic counselling in this poorly characterised population.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13135022/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147822076","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":"Meeting the demand: A collaborative approach in developing genetic counselling education in the Nordic countries.","authors":"Elen Siglen, Essi Ylistalo, Åshild Lunde, Arnhildur Tomasdottir, Marianne Lodahl, Charlotta Ingvoldstad Malmgren, Hakon Bjørn Hognason, Eirny T Thorolfsdottir, Mari Laaksonen, Vigdis Fjola Stefansdottir, Cathrine Bjorvatn, Rebecka Pestoff","doi":"10.1007/s12687-026-00883-x","DOIUrl":"https://doi.org/10.1007/s12687-026-00883-x","url":null,"abstract":"<p><p>This program report describes the establishment of the Nordic Network for Genetic Counselling (NNGC) and the ongoing work toward developing a joint Nordic MSc in Genetic Counselling and increasing awareness of genetic counselling in the Nordic countries. Founded officially in 2024, the NNGC brings together universities and university hospitals across the Nordic region and draws on members varied clinical and academic backgrounds. With financial support from NordPlus, the network has built a collaborative framework based on shared responsibility, rotating coordination, and regular digital and in-person meetings. Using the previously EBMG accredited Swedish MSc as a point of reference, the network has a curriculum that aligns with international standards and Nordic priorities related to sustainability, equity, and educational quality. Formal agreements between participating institutions have secured engagement and provided a basis for the development of the master's programme. The learning points from this collaborative work, including key facilitators, identified barriers, and recommendations when pursuing similar initiatives are presented. Although still under development, the planned Nordic MSc, expected to launch in 2027, demonstrates how regional/international collaboration can strengthen specialized education and support the future workforce needs of precision medicine.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13135020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147821968","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":"Holistic view of understanding genetic predisposition and perceptions of genomic research in African communities: tradition, trust and transformation.","authors":"Nuria Ribeiro, Brendon Pearce","doi":"10.1007/s12687-026-00889-5","DOIUrl":"https://doi.org/10.1007/s12687-026-00889-5","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13121668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147785254","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":"Family quality of life in the context of Rett syndrome: insights from Brazilian families.","authors":"Nicoly Stefani Sevalho Carlucci, Bianca Pereira Favilla, Beatriz Carvalho Nunes, Fernanda Teresa de Lima, Maria Isabel Melaragno, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Carla Maria Ramos Germano, Débora Gusmão Melo","doi":"10.1007/s12687-026-00888-6","DOIUrl":"https://doi.org/10.1007/s12687-026-00888-6","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13121640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147785078","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":"Transforming clinical trials in rare genetic diseases through telemedicine.","authors":"Marco Crimi, Sebastiano Bianca","doi":"10.1007/s12687-026-00887-7","DOIUrl":"https://doi.org/10.1007/s12687-026-00887-7","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13111738/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147785257","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 law on voluntary termination of pregnancy in Argentina: impact on the epidemiological situation of congenital anomalies and prenatal diagnostic health services.","authors":"Barbero Pablo, Brun Paloma, Groisman Boris, Bidondo María Paz, Aiello Horacio, Trotta Marianela, Liascovich Rosa","doi":"10.1007/s12687-026-00886-8","DOIUrl":"https://doi.org/10.1007/s12687-026-00886-8","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13109487/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147785290","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":"Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders.","authors":"Cathy Herbrand, Kriss Fearon, Pascal Borry, Lorraine Culley, Nicky Hudson, Zosia Miedzybrodzka, Sarah Norcross, Bronwyn Parry, Eva Van Steijvoort","doi":"10.1007/s12687-026-00882-y","DOIUrl":"https://doi.org/10.1007/s12687-026-00882-y","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 3","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13100082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147785296","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}