Journal of Community Genetics最新文献

{"title":"Public knowledge, attitudes, and ethical views on CRISPR-Cas9 gene editing for genetic diseases in Taif, Saudi Arabia.","authors":"Ghaliah O Alnefaie, Osama H Alsayed, Yusra I Alsalmi, Dhay S Algethami, Mohammed K Alshehri, Maryam S Aljaid","doi":"10.1007/s12687-026-00927-2","DOIUrl":"10.1007/s12687-026-00927-2","url":null,"abstract":"<p><p>Public support for gene editing, particularly for therapeutic purposes, remains strong. Recently, the Ministry of Health in Saudi Arabia approved CRISPR-Cas9 for treating Sickle Cell Disease and beta thalassemia. This study aims to assess the Taif population's opinion on gene editing and their knowledge of genetic modification. In this cross-sectional study, a questionnaire was distributed online from March 2, 2024, to June 15, 2024, to 747 residents of Taif City aged 18 and older. Among the respondents, 14.7% reported that they or their family members suffer from a hereditary disease, and 65.7% either work or study in the healthcare field or have a family member involved in healthcare. Additionally, 50.7% had previously heard of genetic modification. Marital status, number of children, and education level did not significantly influence opinions on genetic editing, whereas affiliation with the healthcare field was significantly associated with greater acceptance (p = 0.023), while a family history of hereditary disease showed a trend toward significance (p = 0.055). Public opinion strongly supports using genetic editing to treat life-threatening diseases in adults and embryos (63.2% and 73.6%, respectively). However, opinions are more divided on non-disease traits. Many respondents expressed interest in enhancing intelligence (73.8%) and strength (75.8%), as well as altering height (67.8%) and hair color (60.7%). While support was strong for therapeutic use, opinions were divided on enhancement, reflecting ethical tension despite high interest in modifying non-disease traits. Notably, 50.7% believed that using genetic editing for non-medical purposes crosses ethical boundaries and exceeds nature's limits. Awareness of gene-editing techniques was not significantly associated with acceptance (p = 0.108). In conclusion, public acceptance of gene editing in Taif is high, particularly among healthcare-affiliated individuals. Increasing public awareness remains essential to bridge ethical concerns and support informed engagement.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13415710/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148608384","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":"Non-genetic physicians' self-assessment of knowledge and confidence toward genetic testing and counseling: a national survey in a high consanguineous population.","authors":"Abeer F Zakariyah, Alaa Edrees, Mahmoud Almutadares, Muhammad A Khan, Samar M Altoukhi, Moath Shawosh","doi":"10.1007/s12687-026-00925-4","DOIUrl":"10.1007/s12687-026-00925-4","url":null,"abstract":"<p><p>Genetic testing is increasingly used in clinical practice. This places new demands on non-genetic physicians (NGPs) to select appropriate tests, interpret complex results, and counsel patients about implications. In highly consanguineous countries such as Saudi Arabia, where the burden of hereditary diseases is high, these demands require a genomic-ready workforce. This study aimed to assess NGPs' self-perceived knowledge and confidence regarding genetic testing and counseling, and to examine their association with demographic and professional characteristics. An online questionnaire was distributed and completed by 582 NGPs from all regions in Saudi Arabia. The questionnaire collected demographic data, self-assessments of knowledge and confidence, referral frequency to a genetic counselor or clinical geneticist, and resources used to obtain genetic information. The self-assessment of NGPs' knowledge and confidence revealed a deficit. Results indicated moderate genetic knowledge among the NGPs, with a median of 4 (interquartile range 1-8) out of 16, and low confidence levels, with a median of 2 (interquartile range 0-4) out of 8. Consultants exhibited significantly higher knowledge and confidence compared with other ranks (p < 0.001). A strong positive correlation was observed between knowledge and confidence levels (Spearman's rho = 0.796, p < 0.01). Over half of the NGPs (54.3%) referred patients to genetic counselors or geneticists, and more than 50% relied on general clinical resources (UpToDate and search engines), whereas fewer than 50% reported using Online Mendelian Inheritance in Man (OMIM) or GeneReviews. This study reports low self-perceived genetic knowledge and confidence among NGPs in Saudi Arabia, despite frequent exposure to patients with genetic conditions. Strengthening genetic education throughout medical and residency training and integrating clinical decision support into mainstream models are critical to building a genomics-ready workforce aligned with Saudi Vision 2030.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148580730","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":"Healthcare experiences and the cycle of genomic healthcare disparities: A cross-sectional study utilizing the 'All of Us' research program.","authors":"Megan D Johnson, Aubrey Hite, Jennifer Richmond, Emily C Lisi, Hannah C Ainsworth","doi":"10.1007/s12687-026-00921-8","DOIUrl":"10.1007/s12687-026-00921-8","url":null,"abstract":"<p><p>Our understanding and utilization of genetics in healthcare continues to increase, but historically excluded and underrepresented groups (e.g., racial minority groups, those living in rural areas, and individuals from lower socioeconomic backgrounds) are often left behind due to barriers in accessing genetic healthcare and research. Although research priorities have shifted toward greater inclusion, underrepresentation persists, potentially driven by ongoing negative healthcare experiences that compound barriers to accessing genetic research and healthcare services, creating a cycle of genomic healthcare disparities. However, there is limited research about how healthcare experiences may contribute to genomic healthcare disparities. We examined this knowledge gap by using data from the All of Us Research Program to investigate healthcare experiences of participants from underrepresented groups as well as participants with clinically diagnosed genetic conditions. We explored three survey questions which documented self-reported experiences when receiving healthcare (i.e., inclusion in medical decisions, being treated with respect by providers, and receiving easy to understand medical information). Survey question responses were analyzed within a regression framework which included self-identified race, age, gender identity, health insurance status, education and income levels, having a diagnosed genetic condition, and rural location as predictors. Results suggest many populations (e.g., minoritized racial and gender groups, individuals who have had to delay care due to living in a rural area, and those with genetic conditions) face inequities in healthcare experiences. These findings support the proposed conceptual model of a genomic healthcare disparity cycle and the need to address these negative healthcare experiences to break the cycle.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13391989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148551148","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":"Comment on \"Characterization of individuals with skeletal dysplasia at a referral center in Brazil\".","authors":"Ahmad Ali","doi":"10.1007/s12687-026-00929-0","DOIUrl":"10.1007/s12687-026-00929-0","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13391978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148551133","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":"Carrier screening and genetic counseling in high-consanguinity populations: a narrative review.","authors":"Abeer Zakariyah, Babajan Banaganapalli","doi":"10.1007/s12687-026-00922-7","DOIUrl":"10.1007/s12687-026-00922-7","url":null,"abstract":"<p><p>High-consanguinity rates in many Middle Eastern and North African populations have substantially increased the burden of autosomal recessive disorders, making carrier screening a critical public health priority. This narrative review synthesizes evidence published between 2020 and 2025 on carrier screening and genetic counseling in these populations, focusing on detection rates, counseling models, cultural acceptability, and key implementation barriers, including uptake, stigma, and equity. Carrier detection rates of 62-90% have been reported in population-level screening programs. The review findings suggest that program effectiveness depends critically on culturally responsive counseling, community engagement, and supportive legal and religious frameworks, rather than on technology alone. Significant implementation challenges persist, including limited population-specific genomic reference databases leading to high rates of variants of uncertain significance, the absence of standardized counseling pathways, substantial proportions of identified at-risk couples proceeding with marriage (50-67%), and insufficient long-term program evaluations. These findings highlight the need for context-specific implementation research, workforce development in genetic counseling, and policy frameworks that better integrate carrier and premarital screening with accessible reproductive options and culturally adapted counseling pathways in high-consanguinity populations.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13385560/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148537297","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":"Characterization of individuals with skeletal dysplasia at a referral center in Brazil.","authors":"J G C Meira, M P Migliavacca, A X Acosta","doi":"10.1007/s12687-026-00920-9","DOIUrl":"10.1007/s12687-026-00920-9","url":null,"abstract":"<p><p>Skeletal dysplasias are rare genetic disorders affecting bone and cartilage, often causing disproportionate short stature and multisystem involvement. In Brazil, limited data challenge diagnosis and management. To describe the clinical and sociodemographic profile of individuals with suspected skeletal dysplasia, without confirmed etiological diagnosis, evaluated at a university hospital in Salvador, Bahia, Brazil, and referred for genomic sequencing through the Rare Genomes Project. Observational, cross-sectional study including 90 individuals evaluated at Hospital Professor Edgard Santos, that is part of Federal University of Bahia, between December 2020 and May 2023. All patients were evaluated by a medical geneticist, and clinical data were extracted from medical records and standardized using Human Phenotype Ontology (HPO) terms. Most participants (71%) were from countryside of Bahia, 68% were mixed-race, with balanced sex distribution. The mean age was 11.4 years. Consanguinity was reported in 28% and family recurrence in 34% of cases. Among the 15 subgroups listed, the most frequent was \"Skeletal dysplasia with decreased bone density\" (43.3%). A total of 299 distinct HPO terms reflected high phenotypic variability. This study highlights the clinical heterogeneity of skeletal dysplasia and the importance of a specialized evaluation by a clinical geneticist enabling standardized phenotyping combined with genomic tools to improve diagnosis and public health care.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13341988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148399501","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":"Experiences of implementation of personalised risk estimates for breast cancer in clinical practice: a systematic review and qualitative synthesis.","authors":"N B Fennell, S Abukar, I Kuhn, P Linneker, C Wilson, M Tischkowitz, S Archer","doi":"10.1007/s12687-026-00918-3","DOIUrl":"10.1007/s12687-026-00918-3","url":null,"abstract":"<p><p>Breast cancer risk prediction tools are increasingly used in clinical practice to guide early detection, prevention, and shared decision-making. Unlike population-level screening, personalised risk estimates incorporate individual factors (family history, genetics, lifestyle, breast density), providing tailored assessments. These tools show promise for improving patient engagement and targeted prevention, but require effective implementation to ensure they enhance rather than complicate care. This review explores healthcare professionals' experiences with providing personalised breast cancer risk estimates and women's experiences of receiving them in clinical settings. Four online databases were searched for qualitative studies on the use of personalised risk estimates in clinical practice. Data were analysed using inductive thematic analysis. Seven papers were included; the majority based in the UK screening setting. Most used interview and focus-groups, with thematic analysis. Both healthcare professionals and women expressed high acceptance of personalised risk estimates. Women found the information empowering and useful for future health planning. Effective communication and prompt follow-up from healthcare professionals were crucial for positive experiences. Professionals highlighted challenges in implementation, including the need for additional healthcare professionals, safe care pathways, and technology. The studies focused on stratified breast screening, raising questions about offering less frequent screening to lower-risk women. This approach must be supported by strong evidence, and women should retain choice in screening intervals. Personalised risk estimates are favourably viewed in clinical practice, but studies mainly examined research settings. Further research is needed to understand real-world implementation, identify barriers, and optimise use across diverse clinical environments.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13337996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148392114","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":"Sickle cell disease-related myths and misconceptions among tribal communities in India: a multi-state qualitative study.","authors":"Yogita Sharma, Parikipandla Sridevi, Jatin Sarmah, Godi Sudhakar, Manoranjan Ranjit, Shaily B Surti, Deepa Bhat, Madhusmita Bal, Rabindra K Jena, Bontha V Babu","doi":"10.1007/s12687-026-00919-2","DOIUrl":"10.1007/s12687-026-00919-2","url":null,"abstract":"<p><p>Myths and misconceptions surrounding sickle cell disease (SCD) can shape stigma and influence the treatment and interaction with healthcare services. In India, where SCD disproportionately affects tribal populations, limited evidence exists on myths and misconceptions across endemic regions. This study explored culturally embedded myths and misconceptions related to SCD among tribal communities in India and examined their implications for stigma and healthcare-seeking behaviour. A qualitative descriptive study was conducted across nine SCD-endemic tribal districts in India. Data, collected through in-depth interviews with key informants and focus group discussions with community members, were analysed using thematic content analysis. Themes were organised around domains of causation, transmission, heredity, prognosis and treatment. The study identified diverse SCD-related beliefs, myths and misconceptions across the study sites. These were organised around domains and grouped into four broad categories: locally rooted explanatory beliefs, including supernatural, spiritual, dietary and lifestyle-related explanations; misconceptions arising from incomplete biomedical understanding, particularly regarding contagion, heredity and consanguineous marriage; distorted interpretations of medical or programme-related messages, especially around marriage, reproduction and long-term treatment; and social consequences related to stigma, fatalism, perceived productivity and economic burden. These categories overlapped across sites, with some beliefs being locally specific and others commonly reported across tribal settings. SCD-related myths and misconceptions in tribal India are socially embedded and extend beyond simple informational gaps. Culturally responsive communication and counselling approaches that acknowledge local explanatory frameworks, while strengthening accurate understanding of inheritance, treatment and long-term care, are needed within SCD care programmes in endemic regions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13332073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148382975","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 services in Pakistan: a review highlighting limitations and opportunities for improvement.","authors":"Abdul Khaliq, Abrar Hussain","doi":"10.1007/s12687-026-00917-4","DOIUrl":"10.1007/s12687-026-00917-4","url":null,"abstract":"<p><p>Genetic services, including genetic testing and genetic counseling, are essential components of modern healthcare and play a critical role in diagnosis, management, and prevention of inherited disorders. In Pakistan, the burden of genetic disorders is substantially increased by high rates of consanguinity, limited public awareness, inadequate healthcare infrastructure, and the absence of formal genetic counseling services. This review evaluates the current status of genetic services in Pakistan, focusing on genetic testing facilities, genetic counseling, healthcare infrastructure, workforce limitations, ethical considerations, and recent initiatives aimed at improving genomic healthcare delivery. A narrative review of the literature was conducted using national and international studies related to medical genetics and genetic counseling. The findings indicate that genetic services in Pakistan remain limited, costly, and largely inaccessible within the public healthcare sector. Advanced diagnostic technologies, including whole exome/genome sequencing (WES/WGS), and non-invasive prenatal testing (NIPT), are mostly outsourced internationally, restricting access for much of the population. Furthermore, Pakistan lacks formal postgraduate training programs and professional accreditation systems for genetic counselors (GCs). Recent efforts by the Pakistani Society of Medical Genetics and Genomics (PSMG), including telehealth genetic clinics, educational programs, and international collaborations, represent important steps toward improving genetic services in resource-limited settings. This review emphasizes that establishing a national genomics policy, expanding local diagnostic infrastructure, and developing accredited genetic counseling training programs are urgently needed for the sustainable integration of genomic medicine into Pakistan's healthcare system.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13328606/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148370510","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 disease genomics and justice: overview of a workshop at the Fondation Brocher, 22-24 January 2025.","authors":"Angus Clarke, Ruth Horn, Elena Avram, Siddarth Banka, Felicity Boardman, Victoria Charlton, Mike Drummond, Roseline Favresse, Angeline Ferdinand, David Freis, Ilaria Galasso, Nadine Z Großmann, Meghan Halley, Sasha Henriques, Hadewych Honné, Sofia Douzgou Houge, Salman Kirmani, Tamar Nov Klaiman, Teodora Lalova-Spinks, Charlotta Ingvoldstad Malmgren, Nick Meade, Elena Nicod, Kelly E Ormond, Barbara Prainsack, Hilde Van Esch, Ambroise Wonkam, Sarah L Wynn, Francesca Forzano","doi":"10.1007/s12687-026-00911-w","DOIUrl":"10.1007/s12687-026-00911-w","url":null,"abstract":"<p><p>Genomics is transforming health care but its implementation raises challenges. This paper reports a 2025 workshop on justice in the implementation of genomics for rare disorders. The workshop goals were to develop a consensus understanding of the problems faced by rare disease patients and families where justice is at stake, to achieve a shared perspective on support for rare disease patients, and to consider the implications for justice in several areas of rare disease genomics, in both research and healthcare. We heard about the diverse experiences and needs of patients. Inequity between different rare diseases is marked. The need for coordination of care for rare disease patients is under-recognized but good models of rare disease care exist. The value of conscientious professionalism to nurture a rare disease mindset needs to be emphasized in the training of each new generation of healthcare students//trainees. The circumstances of different population groups differ systematically. The needs of indigenous and other historically marginalised groups must also be addressed. However, the subordination of individuals to the benefit of the population (i.e. eugenics) must be resisted. Those engaged in genomics projects or diagnostics may need protection from hype and misuse of their personal data, There are different perspectives on the fair allocation of resources to healthcare and research for rare conditions. Health economics and health technology assessment can be practised equitably, so as to meet the challenges of rare disease clinical trials and address the needs of patients and communities.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13323455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148363009","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}