Journal of Community Genetics最新文献

{"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":"10.1007/s12687-026-00888-6","url":null,"abstract":"<p><p>Rett syndrome (RTT) is a rare genetic neurodevelopmental disorder characterized by intellectual disability and severe functional impairments, placing a significant burden on affected families. This exploratory cross-sectional study evaluated family quality of life (FQoL) in Brazilian families of girls with RTT and examined its relationship with sociodemographic and clinical variables. Seventy Brazilian families participated in the study. Data were collected using sociodemographic and clinical questionnaires, the Pediatric Quality of Life Inventory, and the Beach Center Family Quality of Life Scale, which assesses five domains: family interaction, parenting, emotional well-being, physical and material well-being, and disability-related support. The average FQoL score was 3.68 ± 0.67, below the satisfaction threshold (4.0). Emotional well-being had the lowest score (3.16 ± 0.96), significantly lower than other domains (p < 0.001). Overall FQoL was associated with factors such as family income, access to welfare benefits and private health insurance, parental education and employment status, as well as individual characteristics of the person with RTT, including age, aggressiveness, and school type. Taken together, aggressiveness, attendance at a regular school, and a monthly income exceeding four official Brazilian minimum wages explained 29.8% of the variance in FQoL scores. The findings underscore the multifactorial nature of FQoL in the context of developmental disabilities. Improving FQoL for families of individuals with RTT requires integrated strategies that combine emotional support for caregivers, socioeconomic assistance, inclusive education, and medical and psychological care for individuals with RTT. These approaches have direct implications for public policies and service provision in low- and middle-income countries.</p>","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":"10.1007/s12687-026-00887-7","url":null,"abstract":"<p><p>Rare genetic diseases present formidable challenges to diagnosis, management, and clinical trials due to their low prevalence, geographic dispersion of patients, protracted diagnostic odysseys, and scarcity of specialized expertise. These factors lead to significant logistical, financial, and emotional burdens on patients and caregivers, often prolonging trial timelines and limiting participant pools. Telemedicine offers transformative solutions by bridging geographical distances and disseminating specialized knowledge. It encompasses traditional approaches like video conferencing, digital health technologies for remote monitoring using mHealth and wearables and enables Decentralized Clinical Trials, significantly enhancing patient access and accelerating recruitment. European Reference Networks, utilizing the Clinical Patient Management System, facilitate cross-border expert collaboration and knowledge sharing for complex cases. Telegenetics democratizes access to genetic counseling and diagnostic services, while digital platforms provide crucial information and educational resources, fostering patient empowerment and self-management. The integration of Real-World Evidence from wearables and IoT devices, combined with advanced analytics like AI/ML, provides objective and continuous data, supporting regulatory decisions. Despite these benefits, challenges remain, including the inability to perform comprehensive physical examinations remotely, concerns about diagnostic accuracy, the digital divide and user adherence, and the lack of harmonized regulatory and policy frameworks across borders. Ethical considerations, data security, and the need for robust evidence and validated remote outcome measures are also critical. The consensus points towards a hybrid model of care and research, strategically combining telemedicine with essential in-person interactions. Future directions include rigorously evaluating clinical outcomes of telemedicine, developing user-friendly and validated technologies, harmonizing international policies, investing in digital literacy, and fostering coordinated collective intelligence networks to maximize patient knowledge capital and accelerate therapeutic development.</p>","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":"Pablo Barbero, Paloma Brun, Boris Groisman, María Paz Bidondo, Horacio Aiello, Marianela Trotta, Rosa Liascovich","doi":"10.1007/s12687-026-00886-8","DOIUrl":"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":"10.1007/s12687-026-00882-y","url":null,"abstract":"<p><p>Expanded carrier screening (ECS) is a genetic test, increasingly used before conception, to assess prospective parents’ risk of transmitting autosomal recessive and X-linked pathogenic genetic variants to future children. This paper is the first to describe the distinct coexisting routes to ECS in the UK, and to consider key professional stakeholders’ perspectives on the usefulness, advantages and challenges of these distinctive routes in a national context where ECS is almost exclusively available commercially with little regulatory oversight. Data are based on an extensive systematic search and mapping of ECS providers offering tests in the UK, and interviews with 38 stakeholders involved in the practice, provision, or governance of genomic reproductive technologies in the UK. This study identifies and describes three distinct, parallel routes through which ECS is taken up: unassisted conception, assisted conception (with couple’s own gametes), and assisted conception using donated gametes. We found that these routes served very different needs for clinicians, and identified inconsistency across the routes, with significant variations in cost, access, panel composition, and levels of support for test takers, especially in direct-to-consumer testing. These challenges are compounded by the absence of clear regulatory oversight. Findings suggest that ECS should not be treated as a single, uniform practice. Rather, its framing, implementation and perceived value must be understood in relation to the specific institutional, clinical, and social contexts in which it is situated. This contextual understanding is particularly important for informing the regulation and guidance of the distinct ECS offerings.</p>","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}

{"title":"Sociodemographic characteristics and healthcare-seeking behaviour of patients with sickle cell disease: a cross-sectional study across five tribal districts in India.","authors":"Parikipandla Sridevi, Inti Anil, Jatin Sarmah, Madhusmita Bal, Shaily B Surti, Deepa Bhat, Manoranjan Ranjit, Yogita Sharma, Bontha V Babu","doi":"10.1007/s12687-026-00884-w","DOIUrl":"10.1007/s12687-026-00884-w","url":null,"abstract":"<p><p>Sickle 2007cell disease (SCD) is an inherited chronic blood disorder, with symptoms including anaemia, recurrent pain episodes and long-term organ damage. Approximately 1.2 million people in India are affected. Understanding the sociodemographic profile and health-seeking behaviour of individuals with SCD is essential for designing and implementing patient-centred care strategies. This study reports socio-demographic characteristics, living conditions and patterns of healthcare utilisation among individuals diagnosed with SCD in five tribal-dominant and underserved districts of India. Data were collected from 261 individuals diagnosed with SCD using a pretested, structured questionnaire administered through face-to-face interviews. Most participants (74%) learned about their SCD status through the public healthcare staff. A majority reported seeking care at primary or community health centres (69.7%), with smaller proportions attending tertiary-level government facilities (19.2%) and private hospitals (8%). A few participants (3.1%) have not sought treatment. Care-seeking behaviours in SCD vary across socioeconomic factors, including education, occupation, household income, housing type, health insurance coverage, and awareness levels, as reported in previous studies. These insights underscore the need for tailored interventions that address both healthcare access and the underlying healthcare-seeking barriers among the affected populations.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13070096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147663215","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 disorders and congenital anomalies in Nigeria: a scoping review.","authors":"Ayoade Desmond Babalola, Nitza Ferreira Muniz, Lavinia Schuler-Faccini","doi":"10.1007/s12687-026-00876-w","DOIUrl":"10.1007/s12687-026-00876-w","url":null,"abstract":"<p><p>Nigeria, with its rich cultural and genetic diversity, faces a largely undocumented burden of genetic disorders and congenital anomalies. Understanding this burden is vital for effective healthcare planning and interventions. The aim of this study was to provide a comprehensive overview of the prevalence and geographical distribution of genetic disorders and congenital anomalies in Nigeria based on published evidence. A systematic scoping review was conducted across seven databases using tailored search strategies. Screening was performed in two stages: (1) title and abstract and (2) full text- prior to data extraction and analysis. Prevalence figures were recalculated and standardized as a percentage of live births or individuals. Seventy-eight studies met the inclusion criteria, of which 27 reported at least one genetic disorder. Hemoglobinopathies–particularly sickle cell disease (SCD) and sickle cell traits–were the most frequently reported conditions, with prevalence estimates as high as 61%, underscoring Nigeria’s substantial disease burden. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was also commonly reported, with prevalence reaching up to 60% in some populations. Congenital anomalies involving the central nervous system, musculoskeletal system, cardiovascular system, and genitourinary tract were frequently described, with reported prevalence estimates of up to 13%, 8.8%, 3% and 6.7%, respectively. Geographically, studies were disproportionately concentrated in the southern regions, while northern areas–particularly the Northeast–were markedly underrepresented. Significant regional and condition-specific knowledge gaps persist regarding genetic disorders and congenital anomalies in Nigeria, especially in the North. Strengthening surveillance systems, expanding regionally representative research, and implementing targeted public health interventions are critical to inform equitable healthcare planning and reduce disease burden.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13062147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640166","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":"Integrating genetic ancestry into clinical care: Accuracy, utility, and stakeholder views.","authors":"Jessica Prettyman, Thomas J Hoffmann, Sawona Biswas, Aleksandar Rajkovic","doi":"10.1007/s12687-026-00880-0","DOIUrl":"10.1007/s12687-026-00880-0","url":null,"abstract":"<p><p>How to integrate genetic ancestry into clinical care remains unsettled. We assessed (i) agreement between two commercial ancestry providers, (ii) concordance between multiple ancestry algorithms and self‑identified race/ethnicity (SIRE) recorded in the electronic health record (EHR), and (iii) participant perspectives on accuracy, clinical utility, discrimination risk, and EHR integration. Using data from 451 adults in the UCSF 3D Health Study, we harmonized ancestry outputs to five continental categories and quantified cross‑provider agreement and ancestry–SIRE concordance at ≥ 50%, ≥ 75%, and ≥ 90% thresholds; we also analyzed survey responses from 166 participants. Mean agreement between the two commercial providers was 58.4% overall (95% BCa CI: 57.4–59.4%), differing by ancestry: 54.7% European, 73.1% Asian, 57.6% Mixed American, and 76.2% African (overall p = 3.2 × 10⁻²⁰). At ≥ 90% concordance with SIRE, algorithms varied substantially: 2.6% for Ancestry 1 (11/428), 80.1% for Ancestry 2 (353/441), 88.0% for Ancestry 3 (388/441), and 89.3% for Ancestry 4 (394/441). When stratified by SIRE group, European and Asian participants showed consistently high concordance for Ancestries 2–4, while African and Mixed American subgroups showed lower and more variable concordance across all methods. Surveyed participants were largely nondistressed (only 1.2% reported distress); 51.2% agreed ancestry reports are accurate and 50.0% agreed ancestry could support more personalized care, while 52.4% anticipated discrimination. Opinions on storing ancestry in the EHR were mixed (agree: 38.6%; disagree: 30.1%; neutral: 28.9%). Findings show vendor/algorithm choice strongly shapes ancestry outputs and alignment with SIRE. Community genetics programs should avoid treating ancestry as a proxy for race, adopt vendor‑aware workflows, and implement transparent consent and safeguards before linking ancestry to the EHR.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13043983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147595432","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":"Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing.","authors":"Daniel Almeida do Valle, Beatriz de Haro Figueiredo, Gianna Cattoni Araldi, Giovana Pomin Barros Sachetim, Isabella Machado Barby, Lissa Ayumi Aihara, Mariana Romiti Ferreiro, Fabiana Antunes de Andrade, Mara Lúcia Schmitz Ferreira Santos, Michelle Silva Zeny, Josiane de Souza","doi":"10.1007/s12687-026-00881-z","DOIUrl":"10.1007/s12687-026-00881-z","url":null,"abstract":"<p><p>OBJECTIVE: This study aimed to compare the diagnostic yield of genome sequencing (GS) versus exome sequencing (ES) in a pediatric population, with a focus on determining whether GS offers a significant advantage over ES in identifying genetic variants. METHODS: A retrospective analysis of prospectively allocated pediatric patients was performed on 297 pediatric patients who underwent next-generation sequencing. Of these, 59.6% (177) underwent only ES, 32.3% (96) underwent only GS, and 8.1% (24) had both tests. Diagnostic positivity rates were compared between ES and GS, and subgroup analyses were performed based on clinical characteristics. RESULTS: GS demonstrated a higher positivity rate (51.7%) compared to ES (42.8%), with a 95.8% concordance between tests in patients who underwent both. However, the added diagnostic yield of GS was less than 10%. Greater GS positivity was identified in a group of children with neurological, musculoskeletal, growth disorder and craniofacial anomalies. Deep intronic variants were identified in two cases that underwent GS, but only one had also undergone ES. Limitations in medical record completeness and data quality were noted, which could affect the study’s generalizability. CONCLUSION: GS offered a modest increase in diagnostic yield over ES, particularly for detecting deep intronic variants. Some conditions had greater GS positivity, but the interpretation deserves caution as issues regarding homogeneity and sample selection may have influenced this result. </p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 2","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13035966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147575961","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":"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}