Journal of Community Genetics最新文献

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Co-designing 'gene', a smartphone app for genetics education and empowerment with and for the British Pakistani community: a methodological summary of the GENE-Ed project. 共同设计“基因”,这是一个用于遗传学教育和赋予英裔巴基斯坦社区权力的智能手机应用程序:基因教育项目的方法论总结。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-12 DOI: 10.1007/s12687-025-00789-0
Norina Gasteiger, Alan Davies, Nasaim Khan, Amy Vercell, Dawn Dowding, Syed Mustafa Ali, Angela C Davies
{"title":"Co-designing 'gene', a smartphone app for genetics education and empowerment with and for the British Pakistani community: a methodological summary of the GENE-Ed project.","authors":"Norina Gasteiger, Alan Davies, Nasaim Khan, Amy Vercell, Dawn Dowding, Syed Mustafa Ali, Angela C Davies","doi":"10.1007/s12687-025-00789-0","DOIUrl":"10.1007/s12687-025-00789-0","url":null,"abstract":"<p><strong>Introduction: </strong>A lack of culturally appropriate genetic information prevents the British Pakistani community from engaging with genetic services. The GENE-Ed project focussed on the development of an educational app with and for the Pakistani community. A secondary aim was understanding how to engage the community in research.</p><p><strong>Methods: </strong>We used an iterative co-design and co-creation approach including four phases to develop the Gene app. Phase 1 included seven interviews with community members to explore genetics understanding and define the requirements. Phase 2 included reviewing smartphone apps and research on digital patient-facing interventions for genetics understanding. Phase 3 included developing the app and obtaining initial feedback. In Phase 4, feedback was obtained from five community members using the System Usability Scale (SUS), a bespoke survey and observations.</p><p><strong>Results: </strong>Four themes were identified in the interviews: current awareness of genetics; consanguinity, religion and cultural influence; presenting genetics information in a new digital resource and dissemination; information-sharing and uptake. The reviews highlighted an absence of culturally sensitive, accessible and evidence-based digital resources. Initial feedback included altering the animations and images within the app and simplifying the text. The mean SUS score was 87, indicating excellent usability. The written information, animations and videos were acceptable to participants, and they tended to trust the information in the app. During feedback, community members responded well to different methods but struggled with written open-ended survey questions.</p><p><strong>Conclusion: </strong>The co-design approach was essential to developing an acceptable resource for the British Pakistani community. Future clinical testing is needed.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"267-282"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease. 变异型转甲状腺素淀粉样变性伴多神经病变的另一面:葡萄牙家庭成员迟发性疾病的社会心理经验。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-02-20 DOI: 10.1007/s12687-025-00776-5
José D Pereira, Andreia Santos, Eugenia Cisneros-Barroso, Intissar Anan, Marina S Lemos, Milena Paneque
{"title":"The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease.","authors":"José D Pereira, Andreia Santos, Eugenia Cisneros-Barroso, Intissar Anan, Marina S Lemos, Milena Paneque","doi":"10.1007/s12687-025-00776-5","DOIUrl":"10.1007/s12687-025-00776-5","url":null,"abstract":"<p><p>This study is the first to explore the psychosocial experience of members of Portuguese families with late-onset variant transthyretin amyloidosis with polyneuropathy (A-ATTRv-PN). Based on a constructivist worldview, this phenomenological investigation followed a qualitative approach by conducting eight interviews and analyzing qualitative data. The main results suggest that the psychosocial experience of the members of families interviewed is marked by: (a) a delayed awareness of the family disease (viz., in adulthood), (b) psychosocial impacts (viz., emotional and other impacts related to work, parenting, caregiving) experienced and anticipated in an adult phase of the life cycle, and (c) the use of approach strategies (e.g., seeking information about A-ATTRv-PN and seeking social support) and/or avoidance strategies (e.g., avoiding seeking information and talking to others about the condition) with a view to accommodating A-ATTRv-PN in personal and family life. These results differ from the life trajectories of members of Portuguese families with A-ATTRv-PN described previously and extend previous scientific evidence on the psychosocial experience of members of families where the disease typically appears late, contributing to further study on this topic and to the optimization of genetic counseling practices and health policies that respond to the psychosocial needs of members of Portuguese families with late onset of the condition. Future studies should continue to deepen our understanding of the psychosocial experience of this population to improve the clinical response provided to patients, families, and caregivers.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"301-309"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A qualitative study to evaluate the preparedness of community paediatricians for genomic medicine in England - ready for take-off? 一项定性研究,评估英格兰社区儿科医生对基因组医学的准备情况--准备好起飞了吗?
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-12 DOI: 10.1007/s12687-025-00781-8
Sophie Marlowe, Melissa Hill, Michelle Peter, Celine Lewis
{"title":"A qualitative study to evaluate the preparedness of community paediatricians for genomic medicine in England - ready for take-off?","authors":"Sophie Marlowe, Melissa Hill, Michelle Peter, Celine Lewis","doi":"10.1007/s12687-025-00781-8","DOIUrl":"10.1007/s12687-025-00781-8","url":null,"abstract":"<p><p>Genomic medicine (GM) was mainstreamed across the National Health Service (NHS) in England in 2018. Non-genetics healthcare professionals can now incorporate genomic testing including whole genome sequencing (WGS) into their clinical practice. This study was conducted to evaluate the preparedness of community paediatricians (CPs) for GM. Semi-structured interviews, using a topic guide informed by the Consolidated Framework for Implementation Research, were conducted with 17 CPs working in the NHS to explore issues related to preparedness and confidence. Data were analysed using thematic template analysis. The codebook included both inductive and deductive codes informed by the Capability, Opportunity and Motivation Behaviour model (COM-B), an implementation theory to explain behaviour change. The majority of participants perceived a net benefit from GM in terms of improving clinical management and information provision for patients and families and were receptive to using GM in their clinical practice. However, there was wide variation across trusts in CP preparedness for genomic medicine for reasons including lack of time and resources, notably workforce support. Many also lacked confidence in the skills required to deliver GM, and did not see GM as a priority. Most participants felt that they had access to GM education, but the main challenge was finding the time to engage with it. Strategies related to fiscal measures, enablement, training and education could help to address these early obstacles. Our findings may be relevant to clinicians in other non-genetic specialties integrating GM into their clinical practice not only in the UK NHS but more globally.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"321-334"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Scoping review: the current landscape of NIPT in South Africa. 范围审查:南非NIPT的现状。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-05-28 DOI: 10.1007/s12687-025-00802-6
Rita Labuschagne, Colleen Aldous, Elana Vorster, Sarah Walters
{"title":"Scoping review: the current landscape of NIPT in South Africa.","authors":"Rita Labuschagne, Colleen Aldous, Elana Vorster, Sarah Walters","doi":"10.1007/s12687-025-00802-6","DOIUrl":"10.1007/s12687-025-00802-6","url":null,"abstract":"<p><p>Non-invasive prenatal testing (NIPT) analyses cell-free fetal DNA (cffDNA) in maternal blood to screen for trisomies 13, 18, and 21, offering critical insights into common chromosomal aneuploidies without requiring invasive procedures. Advances in technology have made NIPT faster, more affordable, and widely accessible in many high-income countries (HICs), where it has been integrated into routine prenatal care. However, in low- and middle-income countries (LMICs), including South Africa (SA), NIPT remains largely inaccessible. It is available only to individuals who can afford out-of-pocket expenses or those with medical aid and high-risk pregnancies, limiting its potential impact on broader public health. This scoping review aimed to examine the current landscape of NIPT in SA and other LMICs, with a focus on identifying key themes, implementation challenges, and gaps in the literature. Thematic analysis was used to synthesise findings across studies. The review followed PRISMA guidelines, where relevant literature was identified through database searches using the Boolean term: (NIPT OR \"Non-invasive prenatal screen*\" OR \"Non-invasive prenatal test*\" OR NIPD) AND (South Africa* OR \"low-middle income*\" OR \"LMIC\"). Inclusion and exclusion criteria were applied to ensure relevance and quality. Twenty-nine articles were included in the review, and the following key themes were identified: (1) NIPT is a screening, not a diagnostic, test; (2) pre- and post-test genetic counselling is recommended; (3) NIPT is expensive and complex; (4) implementation is challenging; (5) ethical, legal, and social concerns exist; (6) access remains unequal; (7) NIPT reduces the need for invasive testing due to high sensitivity and specificity; (8) NIPT should complement, not replace, first-trimester screening; (9) screening for other genetic conditions may be more relevant in LMICs; and (10) NIPT benefits HIV-positive mothers. Widespread NIPT implementation in SA is constrained by cost, infrastructure, and competing healthcare priorities. While next-generation sequencing (NGS)-based NIPT remains expensive, alternative technologies, such as droplet-based NIPT, may offer a more affordable approach for high-risk pregnancies, reducing reliance on invasive procedures. NIPT holds significant potential to improve prenatal care in SA. However, its current inaccessibility within the public sector and among underserved populations underscores critical gaps in equity, implementation, and broader prenatal screening practices, which remain inadequate across much of the country. A locally validated, cost-effective alternative such as droplet digital PCR-based NIPT (ddNIPT) could help bridge this divide and make advanced screening more accessible and sustainable. Future research must prioritise validating such alternatives within the South African context. Ensuring equitable access to NIPT is essential to improving outcomes for all pregnant women.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"227-241"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Working together: development of a genetic counselling curriculum in a medical genetics residency training program. 共同努力:在医学遗传学住院医师培训计划中制定遗传咨询课程。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-24 DOI: 10.1007/s12687-025-00798-z
Alison M R Castle, Claire Goldsmith, Joanna Lazier
{"title":"Working together: development of a genetic counselling curriculum in a medical genetics residency training program.","authors":"Alison M R Castle, Claire Goldsmith, Joanna Lazier","doi":"10.1007/s12687-025-00798-z","DOIUrl":"10.1007/s12687-025-00798-z","url":null,"abstract":"<p><p>Medical geneticists are physicians who assess, diagnose, and manage individuals with rare genetic diseases. They work with genetic counsellors who are health professionals with specialized training in genetics and counselling. Both provide genetic counselling in their practice. In many centres, genetic counsellors provide patient care collaboratively with geneticists. Given the close working relationship and potential for perception of a hierarchy, interpersonal conflicts can arise, which may be accentuated when the respective scopes of practice are not appreciated. We developed a longitudinal interprofessional curriculum for genetics residents to improve counselling skills, increase understanding of the skills of genetic counsellors, and foster positive relationships. We aim to assist our trainees in navigating the close working relationship and overlapping scopes of practice. Anticipated barriers included increased evaluation workload for genetic counsellors and curriculum transitions, addressed via development of a collaborative evaluation tool. We created a genetic counsellor mentor role, highlighting the importance of interdisciplinary mentorship, and introduced a Junior Attending rotation to provide experience with supervision. Participant feedback has been positive, citing improved communication and increased confidence in counselling. Genetic counsellors have been supportive in their teaching and curriculum contributions. The curriculum has been reviewed nationally with positive and constructive receipt. We continue to assess impacts of the curriculum on transition to practice and are reviewing if the mentor-mentee relationships continue past graduation. Our program has benefited from using allied health professionals in educational, evaluator, and mentorship roles, and hope dissemination of this curriculum can serve as a roadmap for other programs.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"283-289"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050968","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The impact of supplementing traditional risk information with polygenic risk score concerning type 2 diabetes and coronary heart disease on health behavior: a randomized controlled trial. 用2型糖尿病和冠心病多基因风险评分补充传统风险信息对健康行为的影响:一项随机对照试验
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-26 DOI: 10.1007/s12687-025-00790-7
Otto Halmesvaara, Marleena Lonna, Helena Kääriäinen, Markus Perola, Kati Kristiansson, Hanna Konttinen
{"title":"The impact of supplementing traditional risk information with polygenic risk score concerning type 2 diabetes and coronary heart disease on health behavior: a randomized controlled trial.","authors":"Otto Halmesvaara, Marleena Lonna, Helena Kääriäinen, Markus Perola, Kati Kristiansson, Hanna Konttinen","doi":"10.1007/s12687-025-00790-7","DOIUrl":"10.1007/s12687-025-00790-7","url":null,"abstract":"<p><p>Polygenic risk scores (PRS) for different diseases are expected to become more widely available to the public in the coming decades. In addition to the investigation of the clinical relevance of polygenic risk scores, an assessment of the health behavioral impact is needed. The present study used data from a personalized medicine project that combined genomic and traditional health data to evaluate respondents' risk for common diseases. Specifically, we investigated if supplementing traditional risk estimates of type 2 diabetes and coronary heart disease with PRS influenced respondents' self-reported physical activity, alcohol consumption, fruit/vegetable consumption or prompted the respondents to seek medical treatment/examination. As an exploratory hypothesis, we also tested if there was an interaction between the disease risk level and the experimental/control group for any of the outcomes. A randomized controlled trial was conducted, where the experimental group (n = 216 for seeking treatment and 523-459 for other outcomes) received risk estimates based on traditional risk and PRS, and the control group (n = 216 and 526-498) based solely on traditional risk factors. On average, approximately 80 days elapsed between the risk disclosure and outcome measurements. We found no significant difference between the groups regarding health behavior (ps > .28, ds < 0.07) or likelihood of seeking medical treatment/examination (p = .86, OR = 1.06). Likewise, no significant interactions were detected (ps > .08, ds < .11, ORs < 1.2). We conclude that we did not find support for either a beneficial or detrimental effect of supplementing traditional risk estimates with PRSs. However, several limitations should be noted when generalizing the results.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"373-386"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143721829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum. 囊性纤维化在越南和东南亚:诊断不足和遗传谱。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-06-04 DOI: 10.1007/s12687-025-00807-1
Ha-Giang Cao-Pham, Quoc-Khanh Tran-Le, Lam Nguyen-Ho
{"title":"Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum.","authors":"Ha-Giang Cao-Pham, Quoc-Khanh Tran-Le, Lam Nguyen-Ho","doi":"10.1007/s12687-025-00807-1","DOIUrl":"10.1007/s12687-025-00807-1","url":null,"abstract":"<p><p>Recent reports confirm that cystic fibrosis (CF) is a global disease. In Asian populations, both the spectrum of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and the clinical course differ from those observed in Western populations. Although the recognition of CF is increasing in South Asia, comprehensive data from Southeast Asian countries remain sparse. The underdiagnosis of CF in Southeast Asia is attributed to limited awareness among healthcare professionals and restricted access to sweat chloride testing. Until 2021, CF had not been documented in the indigenous population of Vietnam. This study presents the first three confirmed cases of CF in native Vietnamese individuals. Additionally, a literature review of CF cases reported across Southeast Asia was conducted to provide insights into its prevalence and variations in CFTR mutation profiles within the region. A total of 50 cases were identified, distributed across Malaysia (30 cases), Thailand (8), the Philippines (6), Vietnam (5), and Indonesia (1), revealing a mutation spectrum distinct from that observed in Caucasian populations. The most common mutations included p.Phe508del and p.Ile1295PhefsX32, each found in 11.5% of cases. These findings highlight the need for increased clinical awareness, expanded access to sweat chloride testing, and the establishment of CF centers and regional CF registries to better understand and manage CF in Southeast Asia.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"221-225"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trusted partners, community priorities, and data protections: requirements for precision medicine research with Alaska Native peoples. 值得信赖的合作伙伴、社区优先事项和数据保护:与阿拉斯加原住民进行精准医学研究的要求。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-03 DOI: 10.1007/s12687-025-00779-2
R Brian Woodbury, Julie A Beans, Vanessa Y Hiratsuka
{"title":"Trusted partners, community priorities, and data protections: requirements for precision medicine research with Alaska Native peoples.","authors":"R Brian Woodbury, Julie A Beans, Vanessa Y Hiratsuka","doi":"10.1007/s12687-025-00779-2","DOIUrl":"10.1007/s12687-025-00779-2","url":null,"abstract":"<p><p>Precision medicine holds promise for improving health care by tailoring disease treatment and prevention efforts to the needs of individual patients. It also raises ethical questions related to equitable distribution of the benefits of precision medicine; data management, including the terms of data ownership, sharing, and security; and, the nature and extent of community engagement in and oversight of research. These questions are particularly salient for minoritized communities that have been harmed by unethical research practices and often deprived the full benefit of advances in medical science. Understanding the perspectives of these communities is essential to the design and conduct of ethical and effective precision medicine research. This study explored perspectives on the acceptability, feasibility, value, and benefits and harms of precision medicine research among Alaska Native and American Indian (ANAI) peoples. We conducted four focus groups with ANAI individuals who receive primary care from a Tribal health organization in Anchorage, Alaska. Participants were willing to engage in precision medicine research provided specific requirements were met. Research must be conducted by the Tribal health organization or another trusted partner, community health priorities must drive the research agenda, and researchers must employ robust data protections to guard against loss of data security and maintain control over data use and access. These requirements work collectively to ensure research benefits and respects Tribal sovereignty. These findings could help inform efforts to design and implement precision medicine research programs tailored to concerns of ANAI peoples.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"311-319"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
"Hope at a better chance": perspectives on genetic counseling and testing among black individuals with prostate cancer. “希望有更好的机会”:对黑人前列腺癌患者的遗传咨询和检测的看法。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-03-17 DOI: 10.1007/s12687-025-00785-4
Breanne Prindeville, Brittany M Szymaniak, Samantha E Greenberg, Adam B Murphy, Ashley E Ross, Debra Duquette
{"title":"\"Hope at a better chance\": perspectives on genetic counseling and testing among black individuals with prostate cancer.","authors":"Breanne Prindeville, Brittany M Szymaniak, Samantha E Greenberg, Adam B Murphy, Ashley E Ross, Debra Duquette","doi":"10.1007/s12687-025-00785-4","DOIUrl":"10.1007/s12687-025-00785-4","url":null,"abstract":"<p><p>Black individuals have the highest prostate cancer (PCa) incidence and mortality rates of any racial or ethnic group. Racial disparities persist in the understanding and uptake of genetics services, while the perspectives of Black individuals with PCa regarding genetic counseling and germline genetic testing for inherited cancer risk (GC/GT) remains understudied. This qualitative study explored attitudes, facilitators, and barriers to awareness, interest, and uptake of GC/GT among Black individuals with PCa. Eight individuals who self-identified as African American and/or Black with a personal history of PCa participated in individual telephone interviews using a semi-structured interview guide. Interview transcripts were analyzed using both an inductive and deductive coding approach, constant comparison, and selective coding. Five major themes were identified: (1) uncertainty surrounding personal relevance of GC/GT, (2) family influence and impact of GC/GT, (3) healthcare providers and institutions as gatekeepers of GC/GT, (4) community identity, influence, and impact of GC/GT, and (5) systemic barriers to GC/GT exemplify larger structural constraints. A key finding was the influence of community, a collective identity among Black individuals and a desire to benefit the Black community, in motivating research participation and pursuit of GC/GT to lessen racial disparities in PCa. Individual, interpersonal, institutional, community, and structural factors are both barriers and facilitators to awareness, interest, and uptake of GC/GT. Multilevel interventions such as communicating personal, familial, and community implications of GC/GT, improving patient-provider relationships and genetics education, and addressing systemic barriers are necessary to increase efficacy, utility, and equity in GC/GT.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"335-349"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143651351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic testing education needs among parents of children with autism spectrum disorder in Taiwan: a qualitative investigation. 台湾自闭症谱系障碍家长基因检测教育需求的质性调查。
IF 1.5
Journal of Community Genetics Pub Date : 2025-06-01 Epub Date: 2025-04-29 DOI: 10.1007/s12687-025-00795-2
Xiao Meng, Ssu-Yu Yeh, Zihan Zhang, Tse-Yang Huang, Lei-Shih Chen
{"title":"Genetic testing education needs among parents of children with autism spectrum disorder in Taiwan: a qualitative investigation.","authors":"Xiao Meng, Ssu-Yu Yeh, Zihan Zhang, Tse-Yang Huang, Lei-Shih Chen","doi":"10.1007/s12687-025-00795-2","DOIUrl":"10.1007/s12687-025-00795-2","url":null,"abstract":"<p><p>As there was a gap in research focused on the autism spectrum disorder (ASD) genetic testing educational needs of Taiwanese parents of children with ASD, our objective was to explore their ASD genetic testing-related educational needs and preferences. Semi-structured interviews were conducted with 39 Taiwanese parents of children with ASD. All interview data were analyzed to identify emergent themes using content analysis. The study included 31 mothers and 8 fathers with a mean age of 42. Most interviewees were married (92.3%) and held a college degree or higher (61.5%). Most interviewees reported positive attitudes toward ASD genetic testing education and identified preferred educational topics that included: (1) ASD genetic testing cost, procedures, accuracy, reliability, benefits, risks, and scientific basis, (2) genetic testing report interpretation, and (3) the experiences of other parents whose children have undergone ASD genetic testing. Parents reported that their most preferred education methods were in-person lectures and seminars, printed health education materials, and web-based education and that they preferred receiving education from reliable sources including healthcare providers, ASD organizations, and schools. Taiwanese parents of children with ASD in this study expressed interest in ASD genetic testing education. They preferred a variety of topics and delivery methods and welcomed education from diverse sources. These findings provide significant implications for the development of evidence-based ASD genetic testing focused health education programs and materials tailored to the needs of parents of children with ASD in Taiwan.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"291-299"},"PeriodicalIF":1.5,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144004304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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