Journal of Community Genetics最新文献

{"title":"Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.","authors":"Bibiana Mello de Oliveira, Monique Sartori Broch, Carolina Peçaibes de Oliveira, Angélica Piovesana, Claudia Fernandes Lorea, Mariana Lima Scortegagna, Gabriella Zanin Fighera, Isadora Viegas, Laíse Pauletti Barp, Mateus Alonso, Alberto Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Bethania de Freitas Rodrigues Ribeiro, Camila Ferreira Ramos, Carlos Henrique Paiva Grangeiro, Chong Ae Kim, Debora Gusmão Melo, Débora Michelatto, Denise Christofolini, Ellaine Doris Fernandes Carvalho, Erlane Marques Ribeiro, Faradiba Sarquis Serpa, Flavia Resedá Brandão, Isabella Lopes Monlleó, Joyceane Alves Oliveira, Juan Clinton Llerena, Karina Carvalho Donis, Liane de Rosso Giuliani, Louise Lapagesse de Camargo Pinto, Luiz Carlos Santana da Silva, Marcela Câmara Machado Costa, Marcial Francis Galera, Marcia Maria Costa Giacon Giusti, Mara Lucia Schmitz Ferreira Santos, Maria Denise Fernandes Carvalho de Andrade, Maria Teresinha De Oliveira Cardoso, Milena Coelho Fernandes Caldato, Natalya Gonçalves Pereira, Ney Boa Sorte, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy da Silva, Rayana Elias Maia, Sandra Obikawa Kyosen, Solange Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vania Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Ida Vanessa Doederlein Schwartz, Domingos Alves, Têmis Maria Félix","doi":"10.1007/s12687-026-00939-y","DOIUrl":"10.1007/s12687-026-00939-y","url":null,"abstract":"<p><strong>Background: </strong>The diagnostic odyssey of individuals with rare diseases is prolonged and associated with clinical, emotional, and financial burden. In Brazil, data on diagnostic delays and their determinants remain scarce.</p><p><strong>Objective: </strong>This study aims to characterize the diagnostic odyssey of individuals with rare diseases using data from the Brazilian Rare Diseases Network (RARAS).</p><p><strong>Methods: </strong>This descriptive cross-sectional study analyzed ambispective data collected from 2018-2025 across RARAS centers nationwide. Diagnostic odyssey was defined as the time between symptom onset and definitive diagnosis. Prenatal and newborn screening diagnoses were excluded. Sociodemographic, clinical and etiological data were collected through a standardized REDCap-based instrument.</p><p><strong>Results: </strong>Among 18,625 unique participants, 12,048 had confirmed diagnoses and 5,984 met criteria for diagnostic odyssey analysis. The mean diagnostic interval was 6.21 years (± 8.41; median 2.94, IQR 0.80-8.13), indicating substantial heterogeneity. Longer delays were observed in individuals with symptom onset during adolescence. Patients referred during hospital admission experienced shorter diagnostic intervals. Regional differences were significant (p <0.001), with longer intervals in the Southeast region. Mean time to diagnosis ranged from 2.01 (± 2.89) years (achondroplasia) to 16.40 (± 12.59) years (hereditary angioedema). Patients consulted a mean of 5.32 (± 9.63) physicians and accessed 3.15 (± 4.96) healthcare services before diagnosis. Diagnostic intervals varied by race/ethnicity and etiological category, with longer delays among those with molecular diagnoses, while no association was observed with socioeconomic class.</p><p><strong>Conclusion: </strong>The diagnostic odyssey for rare diseases in Brazil remains prolonged and heterogeneous, reflecting structural disparities, healthcare fragmentation, and diagnostic complexity. These findings suggest that delays are not driven solely by limited access to advanced diagnostics, but also by barriers in early recognition, referral pathways, and care coordination, underscoring the need for integrated strategies across the health system.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13578146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148978250","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":"Lived experiences of parents of children with genetic and neurodevelopmental disorders accessing genetic services in Rwanda: barriers and enablers.","authors":"Annette Uwineza, Jean Claude Hakizimana, Daniel Runanira, Divine Christelle Umutoniwase, Janvier Hitayezu, Jeanne P Uyisenga, Alpha-Arsene Marara, Angelique Mukasine, Janviere Mutamuliza, Florent Rutagarama, Leon Mutesa, Abdullateef Isiaka Alagbonsi","doi":"10.1007/s12687-026-00942-3","DOIUrl":"10.1007/s12687-026-00942-3","url":null,"abstract":"<p><strong>Background: </strong>Neurodevelopmental disorders (NDDs) pose significant challenges in low- and middle-income countries (LMICs), where access to specialized care is limited. In Rwanda, genetic services are centralized; however, little is known about parental experiences navigating diagnosis and management.</p><p><strong>Objective: </strong>This qualitative study explored the lived experiences of parents of children with NDDs in Rwanda, focusing on diagnostic journeys, barriers and enablers to care, socioeconomic impacts, stigma, resilience, and recommendations for service improvement.</p><p><strong>Methods: </strong>Semi-structured in-depth interviews were conducted between November 2023 and July 2024 with 30 parents (27 mothers, 3 fathers) of children referred to the pediatric genetics clinic at the University Teaching Hospital of Kigali, Rwanda. Purposive sampling ensured diversity in socioeconomic status and rural or urban residence. Interviews were audio-recorded, transcribed verbatim in Kinyarwanda, translated into English, and analyzed thematically using ATLAS.ti software, following Braun and Clarke's framework.</p><p><strong>Results: </strong>Six major themes emerged: (1) diagnostic delays and uncertainty, characterized by prolonged referrals and delayed results; (2) systemic access barriers, including centralization and geographical hurdles; (3) pervasive socioeconomic hardships exacerbating poverty; (4) sociocultural stigma involving supernatural attributions and social exclusion; (5) profound resilience sustained by hope in clinical progress and spiritual faith and compassionate care; and (6) visions for improvement, emphasizing community education, financial support, decentralization, and hybrid telemedicine.</p><p><strong>Conclusion: </strong>Rwandan parents face structural, economic, and cultural barriers to accessing genetic care, yet demonstrate resilience. Findings highlight the need for decentralized services, community awareness, financial support, and culturally sensitive provider training to reduce diagnostic delays and promote equitable care. These insights inform interventions in Rwanda and comparable LMIC settings.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13569721/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148945364","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":"\"Will it be enough to be respected?\": understanding personal, institutional, and societal harms and benefits of genomics research.","authors":"Emerson Dusic, Devin Madden, Isabella E Rios, Arjee Restar, Tiq Milan, Jodie Patterson, David R Pletta, Sima Rabinowitz, Michelle A Ramos, Rodrigo A Aguayo-Romero, Kellan Baker, Carol R Horowitz, Sari L Reisner","doi":"10.1007/s12687-026-00941-4","DOIUrl":"10.1007/s12687-026-00941-4","url":null,"abstract":"<p><strong>Background: </strong>Transgender Identity Genomics Research (TIGR)-research examining potential associations between genetic factors and transgender, nonbinary, and gender diverse (trans) identities-takes place in a complex landscape with significant potential to either benefit or harm trans communities. As public and political scrutiny of trans communities intensifies, the stakes and potential impacts of TIGR are heightened and ethical, legal and social implications must be considered. To better understand how those who would be most affected by TIGR view such research, we explored trans adults' perceptions of TIGR in the current environment and how they perceive TIGR may impact their futures.</p><p><strong>Methods: </strong>Using a community-based participatory research approach, we partnered with a trans-led Executive Stakeholder Board to conduct in-depth interviews with 31 trans adults in the United States between June-December 2024 and conducted a Reflexive Thematic Analysis.</p><p><strong>Results: </strong>Participants (mean age=34 years, range=19-73 years; 61% people of color; 39% nonbinary, 39% transgender women, 22% transgender men) identified possible benefits of TIGR such as personal affirmation, increased social acceptance, and improved access to gender-affirming healthcare. They also expressed concerns about potential harms, including further stigmatization, discrimination, and pathologization of trans identities. While most viewed research in trans communities (including TIGR) as a net positive, some participants felt it less useful compared to addressing more urgent, material challenges trans communities face.</p><p><strong>Conclusion: </strong>Our findings underscore that TIGR, like all scientific research, is shaped by the sociopolitical environment. It is imperative that TIGR researchers engage meaningfully and ethically with trans communities to minimize potential harms and center community needs.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13562480/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148931648","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 cross-sectional study of genomic knowledge comfort, attitudes, ethical and educational perspectives on precision medicine among medical students in Ecuador.","authors":"Danna Vera, Anna Miroslava Šefcová, César Marcelo Larrea-Álvarez, Marco Larrea-Álvarez","doi":"10.1007/s12687-026-00943-2","DOIUrl":"10.1007/s12687-026-00943-2","url":null,"abstract":"<p><strong>Background: </strong>Precision medicine is increasingly transforming clinical practice, yet its effective implementation depends on adequately trained healthcare professionals.</p><p><strong>Objective: </strong>This study assessed genomic knowledge comfort, attitudes, ethical perceptions, and educational perspectives regarding precision medicine among medical students in Samborondón, Greater Guayaquil, Ecuador.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted between August and November 2025 using a structured questionnaire. A total of 340 students participated. Descriptive and inferential statistical analyses, including non-parametric tests and Spearman correlation, were performed.</p><p><strong>Results: </strong>Participants demonstrated relatively high but uneven genomic knowledge comfort (median 81.3%) and positive attitudes toward precision medicine (65.6%), alongside moderate ethical (62.5%) and educational perception scores (68.8%). While students strongly recognized the importance of precision medicine, perceived preparedness remained limited. Lower confidence was observed in advanced topics such as pharmacogenomics and next-generation sequencing. Ethical concerns were more pronounced at the societal level, particularly regarding health inequities, rather than individual risks. Correlation analyses revealed generally weak associations across domains, with only a moderate relationship between ethical and educational perceptions.</p><p><strong>Conclusion: </strong>These outcomes highlight a gap between acceptance and readiness, suggesting fragmented competency development. Strengthening curricula through integrated, applied, and context-specific training is essential to support effective implementation of precision medicine in low- and middle-income settings.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13550394/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907609","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":"Psychological interventions for individuals affected by Huntington's disease: effects on depression, anxiety, and emotional well-being.","authors":"Andrada Ciucă, Ștefan Trif, Simona Samoilă, Mădălina Radu, Francisco Iruela, Mónica Rodríguez Lopera, César Aguilera Vega, Ruth Blanco, Filipa Júlio, Astri Arnesen, Ramona Moldovan","doi":"10.1007/s12687-026-00923-6","DOIUrl":"10.1007/s12687-026-00923-6","url":null,"abstract":"<p><strong>Introduction: </strong>The literature provides limited evidence on the effectiveness of psychological interventions for individuals living with Huntington's Disease (HD). This study aims to examine the role of psychological support in improving the well-being of individuals and families affected by HD.</p><p><strong>Methods: </strong>The study methodology builds on previous work conducted by the European Huntington Association (EHA). The study includes individuals across three categories: individuals at risk of HD, premanifest HD, or with an HD-negative genetic test. Eligible participants were offered eight online individual cognitive behavioural therapy (CBT) sessions followed by two group sessions. Assessments were performed at pre-intervention, after the individual sessions and after the group sessions. The primary outcomes were anxiety, depression, positive and negative affect, and quality of life.</p><p><strong>Results: </strong>Twenty-one individuals participated in the study, of whom 33% (n = 7) had an HD-negative genetic test, 29% (n = 6) were at risk, and 38% (n = 8) had premanifest HD; the cohort was 57% women (n = 12). Analyses showed significant reductions in depression and anxiety, with medium to large effect sizes. Negative affect also decreased significantly with a large effect, while positive affect showed a non-significant trend toward improvement. Quality-of-life outcomes (physical and mental health components) did not change significantly. Overall, the strongest effects were observed for mood-related outcomes (depression, anxiety, and negative affect).</p><p><strong>Conclusion: </strong>Our data shows that a short-term CBT intervention led to improvements in anxiety, depression and negative affect. These findings enhance the evidence base available supporting the efficacy of psychological interventions that may be beneficial for individuals affected by HD. The article also outlines key lessons regarding intervention tailoring and study design to inform future research exploring the efficacy of psychological interventions for this population.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13538298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148882158","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":"Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in Sweden.","authors":"Maria Johansson Soller, Jamie Linnea Luckhaus, Stephanie Juran, Charlotta Ingvoldstad Malmgren","doi":"10.1007/s12687-026-00931-6","DOIUrl":"https://doi.org/10.1007/s12687-026-00931-6","url":null,"abstract":"<p><p>In Sweden, it is estimated that around half a million people live with a rare disease, and many more are affected through a family member. Despite this, little is known about patients' diagnostic journey, healthcare needs, and trust in the healthcare system. The study provides valuable insight into the diagnostic journey and healthcare experiences of individuals with rare diseases and their next of kin. An online cross-sectional survey was completed in 2021 by members of Rare Diseases Sweden. In total, 942 respondents representing 120 different diagnoses participated. Over half were people living with a rare disease (PLWRD), while the remaining respondents were caregivers to PWLRD (P-PWLRD). Slightly more than one third of the conditions involve intellectual disability, and one in five include motor impairment. Almost half involve complex healthcare needs. Most respondents were diagnosed as adults (44.4%), followed by childhood (27.9%) and at birth (16.7%). More than one third were diagnosed within six months of first healthcare contact, and nearly half within one year, while one in ten waited over ten years. Seven out of ten have consulted an expert in their condition. Those with diagnostic delays exceeding ten years were less likely to see a specialist, more likely to perceive unmet healthcare needs, and reported lower trust in healthcare and healthcare professionals.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13493750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799623","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":"1st Congress of the Tunisian Society of Human Genomics October 17-18 & 19, 2024, Sousse, Tunisia Genomics for a sustainable healthcare system.","authors":"Ayda Bennour, Haifa El Mabrouk, Rakia Mardessi, Hamza Chouk, Siwar Hichri, Narjes Trabelsi, Khouloud Rjiba, Nouha Jendoubi, Cherine Charfeddine, Dorra H'mida","doi":"10.1007/s12687-026-00934-3","DOIUrl":"10.1007/s12687-026-00934-3","url":null,"abstract":"<p><p>The inaugural Congress of the Tunisian Society of Human Genomics (TSHG) was held from October 17 to 19, 2024, in Sousse, Tunisia, under the theme \"Genomics for a Sustainable Healthcare System\". This landmark event aimed to address the rapid advancements and ethical challenges in North Africa's genomic landscape. The congress convened an international assembly of researchers, clinicians, and policymakers. The scientific program featured plenary lectures, keynote presentations, and specialized workshops focused on integrating genomic medicine into national healthcare frameworks. Key discussions centered on emerging sequencing technologies, the ethical imperatives of informed consent, and data privacy in the era of big data. Specialized sessions highlighted population genomics insights derived from Tunisian cohorts, emphasizing rare diseases and cancer genetics. Workshops provided practical training in bioinformatic data analysis and genetic counseling standards. The meeting successfully established a strategic roadmap for advancing personalized medicine in Tunisia. By fostering multidisciplinary collaborations and setting the stage for broader international participation, the TSHG has laid the foundation for sustainable genomic research and clinical application in the region.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13490019/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799569","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":"Global research trends and influential contributions in sickle cell disease: a bibliometric analysis of the top 100 cited papers.","authors":"Sudip Bhattacharya, Alok Singh, Akanksha Singh, Sanjay Kini B, Vivek Singh, Neeraj Dubey, Ujjwal, Vakeel Khan, Arti Sharma, Himanshu Sahu, Palak Khargonkar, Apoorva Wasnik, Deepanshi Saxena","doi":"10.1007/s12687-026-00938-z","DOIUrl":"10.1007/s12687-026-00938-z","url":null,"abstract":"<p><p>Sickle cell disease (SCD) is one of the most common inherited hemoglobin disorders worldwide and remains a major cause of morbidity and mortality, particularly in low- and middle-income countries. Over the past several decades, SCD research has evolved from basic molecular investigations to clinical trials, epidemiological studies, and disease-modifying therapies. Highly cited publications represent the core scientific contributions that have shaped this field. This study aimed to analyze the top 100 most highly cited papers on SCD to identify influential publications, leading contributors, collaboration patterns, and major research hotspots. A bibliometric analysis was conducted using the Scopus database. English-language original articles and review papers published up to 31 December 2025 were retrieved using a predefined search strategy. Of 2,053 records identified, 2,031 relevant publications remained after screening and were ranked according to citation count. The top 100 most cited papers were selected for analysis. Bibliometric indicators including total citations (TC), citations per paper (CPP), relative citation index (RCI), and total link strength (TLS) were assessed. Network visualization and keyword co-occurrence analyses were performed using VOSviewer (version 1.6.20). The top 100 highly cited papers received between 347 and 7,694 citations, accumulating a total of 71,569 citations with a mean CPP of 715.69. Most publications (61%) were published between 1998 and 2023, while original research articles accounted for 83% of the dataset. The United States dominated highly cited SCD research, contributing 86 papers, 64,068 citations, and the highest TLS (71). Among institutions, the Medical College of Georgia and the University of Miami were leading contributors, while Elliott Vichinsky emerged as the most productive author. The New England Journal of Medicine published the largest number of highly cited papers (n = 29), whereas Science recorded the highest CPP (2270.8). Keyword co-occurrence analysis identified three major thematic clusters: (i) genetic and pathophysiological mechanisms, (ii) epidemiology and disease burden, and (iii) therapeutic interventions and clinical management. Highly cited SCD research is concentrated within a limited number of countries, institutions, authors, and high-impact journals, with the United States serving as the principal contributor. The intellectual structure of the field has evolved from fundamental molecular discoveries toward epidemiological research, clinical trials, and therapeutic innovations. These findings provide a comprehensive overview of the core literature in SCD and may help inform future research priorities, international collaborations, and evidence-based policy development.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13490331/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799566","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":"Perception among adult sickle cell patients on the use of herbal medicine in the management of sickle cell disease in Ghana: a qualitative study.","authors":"Euphemia Tumpi, Menford Owusu Ampomah, David Tenkorang-Twum, Karl Atkin, Paul Kolbugri, Bridget Amoako, Luke Laari, Joy Georgette La Bulley, Alhassan Hassan, Dorcas Yvonne Berko","doi":"10.1007/s12687-026-00936-1","DOIUrl":"10.1007/s12687-026-00936-1","url":null,"abstract":"<p><p>The primary management of SCD relies on orthodox medicine; however, many adults living with SCD also use herbal medicine as an alternative or complementary approach. Limited research exists on how patients perceive the use of herbal medicine within SCD care. This study explored the perceptions of herbal medicine use among adults living with SCD in Ghana. An exploratory qualitative design was employed, and purposive sampling was used to recruit 13 adults with SCD receiving care at the University of Ghana Medical Centre. In-depth, face-to-face, semi-structured interviews were conducted and audio-recorded with informed consent. Data were analysed using thematic analysis. Findings revealed that perceptions of herbal medicine were shaped by personal experiences, family and cultural influences, and interactions with healthcare providers. While orthodox medicine was widely trusted for managing acute crises and preventing complications, herbal remedies were commonly viewed as essential for holistic well-being, symptom relief, and disease prevention. The findings highlight strong social and familial networks that sustain herbal use but also expose limited communication between patients and healthcare providers, often resulting in concealment of herbal practices. Medical pluralism was a prominent feature of participants' care-seeking behaviour, driven by affordability, accessibility, and cultural identity. Participants expressed a clear desire for open, non-judgmental dialogue and professional guidance on herbal medicine use, emphasising that ongoing engagement with healthcare services is vital for improving disease literacy among individuals with SCD. However, participants' health literacy does not exclude the use of alternative approaches. Incorporating safe, validated herbal practices into formal healthcare could strengthen patient-provider relationships, build trust, and support holistic management of SCD.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13476215/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148760011","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 neglect and health inequity: the overlooked burden of alport syndrome in pakistan.","authors":"Hamna Yaseen, Ariba Azhar Hussain Shah, Marium Nadeem, Hamza Shakeel","doi":"10.1007/s12687-026-00935-2","DOIUrl":"10.1007/s12687-026-00935-2","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13477462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148766452","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}