Journal of Community Genetics最新文献

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1st Congress of the Tunisian Society of Human Genomics October 17-18 & 19, 2024, Sousse, Tunisia Genomics for a sustainable healthcare system. 突尼斯人类基因组学学会第一届大会于2024年10月17日至18日和19日在苏塞举行,突尼斯基因组学可持续医疗保健系统。
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-19 DOI: 10.1007/s12687-026-00934-3
Ayda Bennour, Haifa El Mabrouk, Rakia Mardessi, Hamza Chouk, Siwar Hichri, Narjes Trabelsi, Khouloud Rjiba, Nouha Jendoubi, Cherine Charfeddine, Dorra H'mida
{"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}
引用次数: 0
Global research trends and influential contributions in sickle cell disease: a bibliometric analysis of the top 100 cited papers. 镰状细胞病的全球研究趋势和有影响力的贡献:前100篇被引论文的文献计量学分析。
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-19 DOI: 10.1007/s12687-026-00938-z
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
{"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}
引用次数: 0
Perception among adult sickle cell patients on the use of herbal medicine in the management of sickle cell disease in Ghana: a qualitative study. 加纳成年镰状细胞病患者对使用草药治疗镰状细胞病的看法:一项定性研究。
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-15 DOI: 10.1007/s12687-026-00936-1
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
{"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}
引用次数: 0
Genetic neglect and health inequity: the overlooked burden of alport syndrome in pakistan. 遗传忽视和健康不平等:巴基斯坦被忽视的阿尔波特综合征负担。
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-15 DOI: 10.1007/s12687-026-00935-2
Hamna Yaseen, Ariba Azhar Hussain Shah, Marium Nadeem, Hamza Shakeel
{"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}
引用次数: 0
Understanding patient perspectives on breast cancer risk: a qualitative study to inform genetic testing communication in the primary care setting. 了解患者对乳腺癌风险的看法:一项定性研究,为初级保健环境中的基因检测交流提供信息。
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-13 DOI: 10.1007/s12687-026-00933-4
Jennifer McGuire, Vanessa Diaz, Katherine Sterba, Kevin S Hughes, Sarah Tucker Marrison
{"title":"Understanding patient perspectives on breast cancer risk: a qualitative study to inform genetic testing communication in the primary care setting.","authors":"Jennifer McGuire, Vanessa Diaz, Katherine Sterba, Kevin S Hughes, Sarah Tucker Marrison","doi":"10.1007/s12687-026-00933-4","DOIUrl":"10.1007/s12687-026-00933-4","url":null,"abstract":"<p><p>Early breast cancer risk identification is essential for targeted screening and prevention. Provider uptake of risk-stratified screening remains low, often due to limited education on risk assessment, clinical time restrictions, and limited resources for systematic implementation. Patient perspectives on incorporating screening tools into routine care are not well understood. This study elicited patient experiences and preferences regarding risk assessment and genetic testing in primary care. Twenty semi-structured interviews were conducted with individuals at average and high breast cancer risk. The interview guide was developed using the informed decision-making framework. Participants reviewed a decision aid and provided feedback on risk and genetic testing communication. Interviews were transcribed and thematic analysis was conducted by two independent coders. Study participants had an average age of 44 with 45% of individuals self-reporting high-risk for breast cancer. Women across risk levels desired clear, empathetic communication with detailed screening and genetic testing information. Financial constraints, fear of results, and confidentiality were perceived barriers. Key benefits included informed decision-making and prevention potential. Participants emphasized accessible information, personalized communication, and clear follow-up plans. High-risk participants demonstrated more active information-seeking, desired ongoing support after testing, and emphasized family. Most found the communication guide and decision aid supportive for informed decision-making. Patient-centered communication and accessible, comprehensive information are key for communication of breast cancer risk. Addressing financial barriers and anxieties surrounding genetic testing will be critical for equitable uptake. Future work should consider these patient preferences in designing interventions to improve risk-aligned care.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13473029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148725865","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}
引用次数: 0
From equity to solidarity: how care and relationality transform the debate on justice in genomics. 从公平到团结:关心和关系如何改变基因组学中关于正义的辩论。
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-11 DOI: 10.1007/s12687-026-00932-5
Barbara Prainsack
{"title":"From equity to solidarity: how care and relationality transform the debate on justice in genomics.","authors":"Barbara Prainsack","doi":"10.1007/s12687-026-00932-5","DOIUrl":"10.1007/s12687-026-00932-5","url":null,"abstract":"<p><p>Equity has become central to genomics, yet dominant approaches - focused on fair representation and distribution - often overlook the relational and structural conditions through which genomic practices are produced and experienced. This paper reframes genomic justice by adding care and solidarity to the conversation. Care highlights lived experience, interdependence, and the relational work required to make genomic knowledge meaningful, while solidarity can help to create institutional arrangements grounded in shared vulnerability, indirect reciprocity, and non-humiliation. The paper applies this framework across key domains, including participation, data governance, benefit-sharing, and global collaboration, proposing shifts toward community-led governance, relational data stewardship, and long-term collective returns. It outlines practical design principles that embed equal dignity, trustworthiness, and mutual accountability into genomic institutions. Community genetics is particularly well positioned to operationalise this approach, given its grounding in families and communities and its emphasis on ongoing relationships. Strengthening these practices can support more just, caring, and resilient genomic futures.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461977/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148707857","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}
引用次数: 0
Trends in awareness and uptake of genetic testing among the United States population, 2011-2022. 2011-2022年美国人口中基因检测的意识和吸收趋势。
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-10 DOI: 10.1007/s12687-026-00924-5
Ariana Naaseh, Mengyao Shi, Steven Tohmasi, Erin L Linnenbringer, Julie A Margenthaler, Graham A Colditz, Yin Cao
{"title":"Trends in awareness and uptake of genetic testing among the United States population, 2011-2022.","authors":"Ariana Naaseh, Mengyao Shi, Steven Tohmasi, Erin L Linnenbringer, Julie A Margenthaler, Graham A Colditz, Yin Cao","doi":"10.1007/s12687-026-00924-5","DOIUrl":"10.1007/s12687-026-00924-5","url":null,"abstract":"<p><p>While genetic testing (GT) has become more available over the past decade, it is unclear whether public awareness and use have increased proportionally. We aimed to evaluate national trends in GT awareness and usage. We performed a cross-sectional analysis of nationally representative data from the National Cancer Institute's Health Information National Trends Survey (HINTS). We analyzed survey responses from HINTS 4 Cycle 1-4 (2011-2014), 5 Cycle 1 and 4 (2017, 2020), and 6 (2022). Primary outcomes were overall genetic testing awareness and uptake. Secondary analyses evaluated awareness and uptake of health-related genetic testing (e.g. disease risk, cancer, and carrier testing) among survey cycles in which specific testing modalities were available. Linear regression assessed crude trends and multivariable logistic regression estimated odds ratios (OR). Among 22,256 respondents, overall awareness of GT increased from 36.6% in 2011 to 81.7% in 2022 (trend p < .001). Awareness was lower among individuals who were older (e.g., ref: age 18-34, age 75+: OR 0.53, 95% confidence interval [CI]: 0.43-0.64), male (ref: female, OR 0.85, CI: 0.77-0.95), non-Hispanic Black (ref: non-Hispanic White, OR 0.63, CI: 0.54-0.74), non-Hispanic Asian (ref: non-Hispanic White, OR 0.38, CI: 0.29-0.48), Hispanic (ref: non-Hispanic White, OR 0.60, CI: 0.52-0.69), with less than a college education (e.g., ref: some college, less than high school: OR 0.60, CI: 0.47-0.77), and with annual household income <$75,000 (e.g., ref: >$75,000, <$20,000: OR 0.49, CI: 0.42-0.59). GT uptake increased from 21.4% in 2020 to 35.6% in 2022 (trend p < .001). GT uptake was lower among individuals who were non-Hispanic Asian (ref: non-Hispanic White, OR 0.60, CI: 0.38-0.96) and had household incomes <$35,000 (e.g., ref: >$75,000, <$20,000: OR 0.68, CI: 0.49-0.94), but higher among those with a personal history of cancer (ref: no cancer history, OR 1.44, CI: 1.07-1.92). Although GT awareness has grown, there are notable gaps across sociodemographic groups. Further study should better characterize factors influencing health-related GT uptake patterns.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13457883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148702238","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}
引用次数: 0
The social construction of the "good doctor": Expectations of physicians among adults with NF1. “好医生”的社会建构:NF1成年人对医生的期望
IF 1.8
Journal of Community Genetics Pub Date : 2026-08-04 DOI: 10.1007/s12687-026-00930-7
Katarzyna Kowal, Jan Domaradzki
{"title":"The social construction of the \"good doctor\": Expectations of physicians among adults with NF1.","authors":"Katarzyna Kowal, Jan Domaradzki","doi":"10.1007/s12687-026-00930-7","DOIUrl":"10.1007/s12687-026-00930-7","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is a rare, genetically determined condition characterised by clinical variability, diagnostic uncertainty, and the need for long-term, multidisciplinary care. In this context, patients' experiences are shaped not only by biomedical factors but also by interactions with healthcare professionals. This study explores how adults with NF1 define the characteristics of a \"good doctor\" based on their experiences within healthcare systems. A qualitative study was conducted using semi-structured, in-depth interviews with 93 adults diagnosed with NF1. An interpretive qualitative approach was adopted, and the data were analysed using Reflexive Thematic Analysis to examine how patients' expectations toward physicians are formed in the context of ongoing care. Participants' accounts revealed that the \"good doctor\" is understood as a context-dependent concept shaped by patients' experiences rather than a fixed set of clinical competencies. While medical expertise was considered important, participants emphasised communication, empathy, and acknowledgement of patients' perspectives and experiences. Experiences of delayed diagnosis, fragmented care, and inconsistent information were found to shape expectations toward physicians and influence trust in the healthcare system. Negative interactions, including dismissal of symptoms or lack of understanding, contributed to disengagement from care, whereas respectful, partnership-based relationships supported better coping with the condition. Patients' expectations toward physicians are shaped by their long-term experiences of living with NF1 and navigating healthcare systems. The findings highlight the importance of integrating clinical expertise with patient-centred communication and coordinated care. Strengthening these aspects may improve patient trust, engagement, and overall quality of care in rare genetic conditions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13438477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148670875","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}
引用次数: 0
The current state of Spanish language resources for patients in Alabama with rare genetic disease: qualitative expert stakeholder interviews. 阿拉巴马州罕见遗传病患者西班牙语资源现状:定性专家利益相关者访谈。
IF 1.8
Journal of Community Genetics Pub Date : 2026-07-31 DOI: 10.1007/s12687-026-00928-1
Spencer Elizabeth Favor, Alicia Gomes, Carlos Javier Torres, Katie Church
{"title":"The current state of Spanish language resources for patients in Alabama with rare genetic disease: qualitative expert stakeholder interviews.","authors":"Spencer Elizabeth Favor, Alicia Gomes, Carlos Javier Torres, Katie Church","doi":"10.1007/s12687-026-00928-1","DOIUrl":"10.1007/s12687-026-00928-1","url":null,"abstract":"<p><strong>Background: </strong>Patients with a rare genetic disease face unmet needs deepened by the traditional American healthcare system. Social, educational, and financial support resources help address some of these challenges; however, for patients who are Spanish speaking, the language barrier makes it more difficult to attain such resources. This compounds with already existing healthcare disparities faced by the Latino/Hispanic community. This study explores the current state of resources available for patients in Alabama who are Spanish speaking with a rare genetic disease and identify specific areas for improvement.</p><p><strong>Methods: </strong>Eleven expert stakeholders who work with either rare genetic disease, patients who speak Spanish, or both, completed 1-hour online audio-only semi-structured interviews. Interviews focused on the current state of resources for this population and ideas for improvement. Transcripts were analyzed using reflexive thematic analysis.</p><p><strong>Results: </strong>A lack of sufficient access to Spanish speaking medical staff and interpreters prevents patients from accessing social support and the healthcare system. Additionally, digital or educational resources in Spanish are rarely accessible to patients. When resources are available they tend to be of high quality, but their implementation is inconsistent. This lack of accessible resources creates an undue burden for both patients and providers.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13424011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148631984","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}
引用次数: 0
Reproductive decision-making in the context of inheritable conditions that affect appearance: Lived experiences and perspectives. 影响外貌的遗传条件下的生殖决策:生活经验和观点。
IF 1.8
Journal of Community Genetics Pub Date : 2026-07-31 DOI: 10.1007/s12687-026-00926-3
Kerry Montgomery, Diana Harcourt
{"title":"Reproductive decision-making in the context of inheritable conditions that affect appearance: Lived experiences and perspectives.","authors":"Kerry Montgomery, Diana Harcourt","doi":"10.1007/s12687-026-00926-3","DOIUrl":"10.1007/s12687-026-00926-3","url":null,"abstract":"<p><p>Inheritable conditions that affect appearance can influence a range of life experiences shaped by social, emotional, and cultural factors. For individuals with such conditions (e.g., craniofacial conditions), considerations about having children may be further complicated by the possibility of passing on the condition and its associated social challenges. This study explored how the visibility of inheritable conditions that affect appearance influences reproductive decision-making, with particular attention to decisions about having children and the use of reproductive technologies. Semi-structured interviews were carried out with 18 participants (16 female; 2 male) with a range of visible skin conditions (e.g., neurofibromatosis) and craniofacial conditions (e.g., Treacher Collins Syndrome) who had either considered having children, were currently pregnant or trying to conceive, or had had children within the last five years. Interviews were analysed using reflexive thematic analysis and revealed four main themes. In theme one, \"Coping and adaptation in caring for a child with a visible difference\". parents described an emotional journey from initial distress toward solution-focused coping as they adapted to caring for a child with a visible difference, drawing on their own lived experiences as both a burden and a resource. Theme two, \"Social perceptions, stigma, and responsibility in reproductive decision-making\" illustrates how societal attitudes, stigma, and memories of negative school experiences shaped reproductive decisions, particularly views on natural conception, IVF-PGT, and termination. Theme three, \"Managing uncertainty and control in reproductive choices\" captured participants' strategies to manage risk and regain a sense of control through prenatal testing and assisted reproduction, while navigating complex ethical dilemmas. Finally, in theme four, \"Patient-identified needs as a framework for improved support\" participants emphasised the need for unbiased genetic counselling, practical psychosocial support, and opportunities for peer connection. Overall, this study demonstrates that individuals draw on their lived experiences and anticipate stigma their children may face. These social considerations strongly influence choices around having children and reproductive technologies. The findings underline the importance of genetic counselling that explicitly recognises the role of stigma and societal attitudes, enabling practitioners to better support individuals in making informed decisions.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":"17 4","pages":""},"PeriodicalIF":1.8,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13424007/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148632351","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}
引用次数: 0
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