Journal of Community Genetics最新文献

{"title":"Survey on new technologies and precision medicine to advance healthcare.","authors":"R Díaz Jiménez, Y Trakadis","doi":"10.1007/s12687-026-00875-x","DOIUrl":"10.1007/s12687-026-00875-x","url":null,"abstract":"<p><p>Precision medicine (PM) is transforming healthcare by tailoring prevention and treatment options based on genetic variability, environmental exposures, and lifestyle. Given the recent advancement of genetic technologies, it is important to assess the extent to which current medical education prepares clinicians to apply PM in practice. This multi-method, qualitative descriptive study explores the perceptions of medical trainees, practicing physicians, and genetic counselors in USA and Canada. Participants first completed an online survey (n = 297) on this topic, followed by in-depth, semi-structured interviews with a subset of medical trainees (n = 33). Thematic content analysis was used to identify key themes related to PM implementation and education. Improved patient outcomes, personalized care, and preventative potential were underlined as benefits of PM. Significant barriers were highlighted, such as insufficient personnel trained to interpret genomic data and limited formal education on PM concepts. Both trainees and professionals emphasized the need to enhance PM education across training levels. Our findings reveal critical gaps in current medical education related to PM, particularly the genetic aspects essential for clinical application. Addressing these gaps through targeted curriculum development is necessary to better prepare future clinicians for the integration of PM in healthcare.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13018485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147515670","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":"Stigma: an inherited blame.","authors":"Arya Shambhavi, Pragya Kafley","doi":"10.1007/s12687-026-00879-7","DOIUrl":"10.1007/s12687-026-00879-7","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13018521/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147515680","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":"Patients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.","authors":"Natalie P Stewart, Eliza K Courtney, Megan C Roberts, Erin Turbitt","doi":"10.1007/s12687-026-00878-8","DOIUrl":"10.1007/s12687-026-00878-8","url":null,"abstract":"<p><p>Cascade testing for Lynch syndrome is critical for the identification of at-risk relatives who may benefit from early detection and risk-reduction strategies. Uptake of cascade testing within families has consistently remained low, and strategies developed to address this have had varying degrees of success. Limited research exists that investigates the perspectives and lived experiences of individuals with or at risk of Lynch syndrome, particularly through rich qualitative methods in the context of cascade testing. This study aimed to explore the lived experience of patients and relatives with cascade testing for Lynch syndrome in the USA. We analyzed qualitative interviews performed with twenty patients either diagnosed with Lynch syndrome, or with a family member diagnosed with Lynch syndrome, using reflexive thematic analysis. Three overarching themes were developed: (1) logistics of disclosure, 2) emotions and beliefs surrounding cascade testing, and 3) reflections on strengths and limitations cascade testing. Genetic counseling was an important component of the cascade testing process; however, participants often described feeling under supported. We propose that alternative models of service provision could help to address this lack of support, and therefore assist in optimizing uptake of cascade testing for Lynch syndrome.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13009310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147505294","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":"Consanguinity in the Lebanese population: knowledge, attitudes and practices.","authors":"Eliane Chouery, José-Noel Ibrahim, Mary E Deeb, Ali Sobh, Mohamad Ghanem, Jeanine Sobh, Francesca El Choueiry, Ramy Rashwan, Dana Swaidan, Aya Abdelrazzak, Christian Massad, Adam El Fouani, Cybel Mehawej, Andre Megarbane","doi":"10.1007/s12687-026-00874-y","DOIUrl":"10.1007/s12687-026-00874-y","url":null,"abstract":"<p><p>Consanguinity is associated with an increased risk of autosomal recessive diseases. Its prevalence varies globally, with notably high prevalence in Middle-Eastern countries. Gaining insight into both the prevalence of consanguineous marriages and societal attitudes toward them is essential for designing effective public health interventions. This study examines the current prevalence of consanguinity in Lebanon and explores its contributing risk factors. It further evaluates the knowledge of the Lebanese population regarding this practice and premarital genetic screening, as well as their attitudes toward consanguinity and genetic counseling. A cross-sectional survey was conducted among 984 Lebanese individuals, aged 18 to 65 years, using an online self-administered questionnaire. The prevalence of consanguinity in Lebanon was found to be 24.5%, with first-cousin marriages comprising 46.5% of these unions; place of residence was the only independent factors affecting consanguinity prevalence among our sample. Most participants had a good understanding of consanguinity but misconceptions about specific genetic risks persisted. Attitudes varied, with participants from consanguineous backgrounds showing greater acceptance of the practice. Logistic regression identified gender, education, occupational status, and age as independent predictors of consanguinity while insufficient income, having consanguineous parents, and having a poor knowledge were associated with a positive attitude towards consanguinity. While the prevalence of consanguinity remains high and consistent over time, societal beliefs and cultural practices continue to influence this phenomenon. Public health interventions should focus on raising awareness and disseminating accurate information about the implications of consanguinity and the importance of genetic counseling, particularly among communities with high prevalence of consanguinity.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13005785/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494755","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 insights: proband- only exome sequencing in pediatric neurological disorders.","authors":"Komal Uppal, Himani Kaushik, Meenakshi Bothra Gupta, Sunil Kumar Polipalli, Somesh Kumar, Seema Kapoor","doi":"10.1007/s12687-026-00870-2","DOIUrl":"10.1007/s12687-026-00870-2","url":null,"abstract":"<p><p>Exome sequencing (ES) is emerging as a cost-effective and useful diagnostic tool for identifying pediatric neurological disorders with diverse clinical presentations. This retrospective study reviewed ES data from January 2021 to November 2023 for children with neurological symptoms that met the inclusion criteria at the genetic laboratory, Lok Nayak Hospital, New Delhi. Eighty-three children with the mentioned neurological features underwent proband-only ES. Of these, 43/83 (51.80%) were diagnosed with pathogenic (P) or likely pathogenic (LP) variants, 36/83 (43.37%) had variants of unknown significance (VUS), and 10/83 (12.04%) showed no variant. A definitive diagnosis could be established in 46.98% (39/83) of the patients. The results demonstrate the high diagnostic yield of ES for children with diverse neurological phenotypes, making it a useful tool for diagnosing pediatric neurological disorders. Achieving specific genetic diagnosis would not only be useful in planning further management and prognostication, but would also aid in offering genetic counselling and prenatal diagnosis to the parents of the affected proband, if they are planning any future pregnancies.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13004763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491961","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 impact of stigma on people with albinism in Africa: a narrative review.","authors":"Jennifer Gr Kromberg, Robyn A Kerr","doi":"10.1007/s12687-026-00872-0","DOIUrl":"10.1007/s12687-026-00872-0","url":null,"abstract":"<p><p>Oculocutaneous albinism (OCA) is a recessively inherited condition which affects about 1 in 5,000 people in Africa. The depigmentation of the skin and hair is very striking, unusual and unexpected, and stigmatisation has been ongoing for centuries. This narrative review asked: How does stigma related to OCA manifest in African settings, what drives it, what impacts does it have across health, education, psychosocial well-being and human rights, and what interventions have been proposed or implemented to reduce harm? The review was conducted using searches of PubMed and Google Scholar (up to June 2024), supplemented by targeted retrieval of policy and NGO reports; 60 sources met inclusion criteria and were synthesised thematically. Results showed that widely held cultural beliefs and myths, that originate in perceptions of difference cause, and perpetuate, stigmatisation. Maternal-infant bonding, schooling, social interactions, health, marriage, employment issues, personal safety and human rights may all be affected by the stigmatising behaviour of the community. Children as well as adults may be attacked for their body parts, believed to make powerful medicine in some countries. Healthcare workers’ stigmatising attitudes may result in poor delivery of essential health care services. Services that should be provided for people with albinism include appropriate healthcare, genetic counselling, and possibly general counselling to provide support and guidance for managing the condition and coping with the issues associated with endemic stigmatisation. In conclusion, stigma related to OCA in Africa is driven primarily by socio-cultural beliefs and reinforced by structural inequities, producing wide-ranging harms across the life course. Awareness programs are required to inform the public and dispel myths, specialised healthcare services need to be increased, and guidelines on managing albinism should be provided to health and educational professionals, so that incidents of stigmatisation may be minimised.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13005792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494772","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":"Views and experiences regarding workplace genetic testing: findings from a national survey of U.S. employees.","authors":"Drew Blasco, Sarah McCain, Subhamoy Pal, Wendy R Uhlmann, Rebecca Ferber, Kunal Sanghavi, Elizabeth Charnysh, Anya E R Prince, Charles Lee, J Scott Roberts","doi":"10.1007/s12687-025-00856-6","DOIUrl":"10.1007/s12687-025-00856-6","url":null,"abstract":"<p><p>The emergence of voluntary health-related genetic testing in workplace wellness programs indicates a need to understand employees’ views and experiences regarding workplace genetic testing (wGT). A large, diverse national sample of employed adults (N=2000; median age=43 years; 51.1% female; 33% non-white) completed a web survey of their wGT views and experiences. Although 80% of participants indicated their employer did not offer wGT, 54.1% were interested in testing, especially (somewhat/very) for cancer (89.2%), heart disease (93.1%), and Alzheimer’s disease (85.3%). Characteristics associated with wGT interest included younger age (<55 years), Hispanic/Latino ethnicity, genetic testing experience or familiarity, and a positive family medical history (all p<0.05). Reasons for pursuing wGT (e.g., inform health behaviors) were endorsed more frequently than reasons for declining (e.g., insurance/employability concerns). Among participants offered wGT (20%), 60% indicated having undergone testing. Test uptake was associated with personal medical history, greater familiarity with genetic testing, and self-reported physical health (all p<0.05). A minority of employed adults surveyed reported being offered, or having had, wGT. Nevertheless, many employees are potentially interested in wGT, particularly for common diseases. Although employees have wGT concerns, many view it as beneficial to inform health behaviors and decisions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13004782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147491978","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 feasibility study to collect three generation family histories using a patient completed questionnaire provided by a family physician.","authors":"Daniel R Evans, Kalene Lee, Katherine A Blood, Michael Mawdsley, Martin Dawes","doi":"10.1007/s12687-026-00869-9","DOIUrl":"10.1007/s12687-026-00869-9","url":null,"abstract":"<p><p>Assessing family history is an important part of routine family practice. The primary aim of this study was to determine whether patients can complete a take home questionnaire provided by their family physician. 564 eligible patients attached to a family practice in British Columbia were invited to participate in the study. The average age of invitees was 55.59 years old. Among them, 277 were male (49.1%) and 287 were female (50.8%). 89 participants returned a family history questionnaire, 15.78% response rate. The average age of participants was 65.8 and ranged from 22 to 92 years old. 32 participants were male (35.9%) and 57 were female (64.0%). Family history pedigrees were obtained from the questionnaires. Family history and pedigrees inform health care decisions as part of routine care and risk assessment in a family practice setting. Assessing family history in the workflow of a family physician's office will be important to integration of genetics and family medicine in the future. Our study demonstrates the feasibility of family history assessment in family practice.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12996512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147475837","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":"Reframing bioinformatics capacity development in Africa: from training supply to research-driven demand.","authors":"Juma Hussein, Hawa Myovela","doi":"10.1007/s12687-026-00877-9","DOIUrl":"10.1007/s12687-026-00877-9","url":null,"abstract":"<p><p>Bioinformatics has become central to modern genomics and data-intensive life science research, yet capacity development across Africa remains uneven. This review examines the evolution of bioinformatics capacity on the continent, evaluating historical investments in training, infrastructure, and collaborative research initiatives. Using narrative synthesis, we assess major continental programs including H3Africa and post-H3ABioNet initiatives. Evidence reviewed suggests that bioinformatics capacity development is most sustainable when skills development and research facilities investments are embedded within funded, data-generating research programs. Regional case studies show that research-led environments promote workforce retention and scientific productivity. Persistent challenges including infrastructure limitations and uneven investment continue to affect analytical capacity and competitiveness. The review proposes a demand-driven framework in which sustained research funding, data production, and embedded training mutually reinforce long-term bioinformatics development. Such an approach may better support locally led genomic research and strengthen Africa’s participation in global data science and precision health initiatives.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12988933/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147460514","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":"Role of the primary healthcare providers in sickle cell disease management: a scoping review.","authors":"Parul Gazta, Janesh Gautam, Mahendra Thakor, Pankaj Bhardwaj, S S Mohanty","doi":"10.1007/s12687-026-00867-x","DOIUrl":"10.1007/s12687-026-00867-x","url":null,"abstract":"<p><p>The primary healthcare (PHC) system is essential for facilitating adherence to care practices among patients with sickle cell disease (SCD). While the PHC system is being strengthened widely, effective disease management is often seen as compromised. This review emphasizes the pivotal role of primary healthcare providers (PHPs) in facilitating comprehensive SCD care services through culturally competent screening, counselling and long-term disease management within the patient’s immediate social and geographic environment. The population-concept-context (PCC) framework was applied to identify literature on the PHPs’ roles and responsibilities in SCD management among patients with SCD in a PHC setting. This scoping review includes primary research and review articles retrieved from open-access databases, including PubMed, ScienceDirect, Epistemonikos and Google Scholar search engine, from the beginning date of each database to 3rd June 2025. The data extracted from selected studies were synthesized using a descriptive qualitative approach. Out of a total of 825 retrieved research articles, 13 studies qualified to be part of the current review. The results demonstrate that PHPs are central to community genetics, particularly in the management of SCD. Their involvement in screening, counselling, crisis management, prophylaxis, treatment and care coordination is vital for the successful implementation of genetic health interventions at the primary care level. The synthesis suggests that trained PHPs, when supported with proper infrastructure, guidelines and referral linkages, are well-positioned to deliver core components of SCD comprehensive care.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12961031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147356953","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}