Public Health Genomics最新文献

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Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents. 针对成人遗传性癌症风险的儿科 DTC 基因检测:高风险父母的观点。
IF 1.5 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-02-05 DOI: 10.1159/000543913
Madison K Kilbride, Beth N Peshkin, Jada G Hamilton, Jamie Brower, Hannah Ovadia, Lainie Friedman Ross, Rosalba Sacca, Beth Tarini, Susan M Domchek, Sarah Vittone, Marcelo M Sleiman, Mary Rose Yockel, Caroline Salafia, Claudine Isaacs, Benjamin S Wilfond, Muriel R Statman, Kenneth P Tercyak
{"title":"Pediatric DTC Genetic Testing for Adult-Onset Inherited Cancer Risk: The Perspectives of High-Risk Parents.","authors":"Madison K Kilbride, Beth N Peshkin, Jada G Hamilton, Jamie Brower, Hannah Ovadia, Lainie Friedman Ross, Rosalba Sacca, Beth Tarini, Susan M Domchek, Sarah Vittone, Marcelo M Sleiman, Mary Rose Yockel, Caroline Salafia, Claudine Isaacs, Benjamin S Wilfond, Muriel R Statman, Kenneth P Tercyak","doi":"10.1159/000543913","DOIUrl":"10.1159/000543913","url":null,"abstract":"<p><strong>Introduction: </strong>Despite guidelines discouraging pediatric genetic testing for adult-onset hereditary cancer risk, direct-to-consumer (DTC) companies make them available to children's parents. This study examined the perspectives of high-risk parents toward such testing.</p><p><strong>Methods: </strong>Interviews were conducted with N = 30 parents (children ages 10-21) carrying pathogenic variants in cancer-causing genes available for detection through DTC tests. Interviews were analyzed inductively using a standardized methodology to identify prominent themes.</p><p><strong>Results: </strong>Three major themes were identified: (1) high-risk parents' motivations for pediatric genetic testing, (2) risks and benefits of pediatric genetic testing, and (3) parental involvement of children in decision-making about testing. Although only n = 5 parents (17% of the sample) reported that their children were genetically tested (n = 3 through a DTC company, n = 2 through a clinician), 73% endorsed pediatric genetic testing for general health reasons. Many parents (53%) expressed a preference for clinical testing over DTC testing. While parents recognized the limits of DTC testing, some (40%) expressed that it should remain available to high-risk parents for the purpose of identifying cancer risks in their children. Children's maturity (70%), interest in testing (77%), and anticipated responses to testing (43%) were cited as important decisional considerations.</p><p><strong>Conclusion: </strong>Few high-risk parents utilized DTC testing for their children. Parents generally preferred the prospect of clinical testing, but some believed DTC testing should be an option available to families. Clinicians should discuss the risks and benefits of pediatric genetic testing, including DTC, with high-risk parents. This may facilitate more informed decision-making that minimizes potential harms.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"102-112"},"PeriodicalIF":1.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11867838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England. 服务提供存在差异:英国国家医疗服务机构为儿科罕见病患者提供全基因组测序服务的异同。
IF 1.3 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2024-11-08 DOI: 10.1159/000542027
Nastazja Monika Laskowski, Angus Clarke, Christine Patch, Amanda Pichini, Melissa Hill, Sinead Whyte, Celine Lewis
{"title":"Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England.","authors":"Nastazja Monika Laskowski, Angus Clarke, Christine Patch, Amanda Pichini, Melissa Hill, Sinead Whyte, Celine Lewis","doi":"10.1159/000542027","DOIUrl":"10.1159/000542027","url":null,"abstract":"<p><strong>Introduction: </strong>The National Health Service (NHS) in England is the first to offer whole genome sequencing (WGS) as part of standard care. As a high-income country with a universal healthcare system, England contributes a valuable perspective to global developments in WGS.</p><p><strong>Methods: </strong>We used an implementation science approach with mixed methods to characterise delivery of WGS for paediatric rare diseases: observations and field notes of consent appointments in clinical genetics and mainstream settings and follow-up qualitative semi-structured interviews with the clinical team. Process maps were developed for each department to identify similarities and variations between sites and thematic analysis of interview data to understand barriers and facilitators.</p><p><strong>Results: </strong>Data collection occurred in 12 departments (7 genetic, 3 neurology, 1 cardiology, and 1 general paediatric) across 7 NHS Trusts. 26 observations of 21 healthcare professionals were conducted, alongside 19 follow-up interviews. Two master maps were developed - one for clinical genetics and one for the mainstream. We identified 11 steps involved in delivering WGS, including 9 variations and 9 similarities. We identified most variation in the processes related to the \"who,\" \"when,\" \"how,\" and \"where\" as these were aspects that could be adapted to fit into the specific set-up of the department. Barriers included reluctance to uptake in the mainstream and difficulties tracking samples.</p><p><strong>Conclusion: </strong>Recommendations include developing standard operating procedures and hiring healthcare professionals responsible for facilitating consent alongside administrative aspects. These would reduce the burden on clinical geneticists and improve turnaround times as well as contribute to streamlining and standardisation of the service.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"1-18"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of Trust in Science on Parental Reactions to Messaging about Children's Epigenetics-Related Obesity Risk. 对科学的信任对父母对有关儿童表观遗传学相关肥胖风险信息的反应的影响。
IF 1.5 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-03-27 DOI: 10.1159/000543627
Emma M Schopp, Rebecca A Ferrer, Sherine El-Toukhy, Susan Persky
{"title":"Effect of Trust in Science on Parental Reactions to Messaging about Children's Epigenetics-Related Obesity Risk.","authors":"Emma M Schopp, Rebecca A Ferrer, Sherine El-Toukhy, Susan Persky","doi":"10.1159/000543627","DOIUrl":"10.1159/000543627","url":null,"abstract":"<p><strong>Introduction: </strong>Accumulating evidence suggests that preconception epigenetic changes elevate the risk for obesity throughout the lifespan. Little is known about how parents may react to learning about parent-child epigenetic transmission of obesity risk. Further, it is unclear how trust in science may moderate these responses.</p><p><strong>Methods: </strong>We compared risk perceptions, behavioral intentions, perceived control, and information-focused ratings of 322 parents with high weight status who were randomized to read an article about the role of preconception epigenetics in intergenerational obesity risk transmission, versus three comparators that focused on genetics, family environment, or an unrelated topic.</p><p><strong>Results: </strong>Parents had largely similar reactions to the epigenetics, genetics, and family environment articles in terms of perceived credibility, relevance, and threat response, but the epigenetics article failed to produce the elevated cognitive (F(3, 310) = 3.027, p = 0.030) and affective/intuitive (F(3, 310) = 3.05, p = 0.029) risk perceptions observed in response to the genetics and family environment articles compared to control. Science trust moderated individual reactions to the epigenetics concepts, such that those with low science trust exhibited lower attentiveness to the epigenetics article (F(4, 249) = 2.92, p = 0.022), and groups with low, medium, or high science trust exhibited distinct reaction profiles in terms of affective/intuitive risk perception (F(6, 310) = 2.40, p = 0.028).</p><p><strong>Conclusion: </strong>An audience's trust in science should be considered when tailoring messages about the role of epigenetics in conveying obesity risk from parent to child.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"131-143"},"PeriodicalIF":1.5,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Toward Patient Involvement and Representation in the Governance of Genomic Data Archives: Deliberative Forums with Patients in Germany. 基因组数据档案管理中的患者参与和代表:德国患者审议论坛。
IF 2.2 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-05-28 DOI: 10.1159/000546172
Eric Apondo, Katja Mehlis, Andreas Bruns, Christoph Schickhardt, Eva Winkler, Andrea Züger
{"title":"Toward Patient Involvement and Representation in the Governance of Genomic Data Archives: Deliberative Forums with Patients in Germany.","authors":"Eric Apondo, Katja Mehlis, Andreas Bruns, Christoph Schickhardt, Eva Winkler, Andrea Züger","doi":"10.1159/000546172","DOIUrl":"10.1159/000546172","url":null,"abstract":"<p><strong>Introduction: </strong>Although it is generally agreed that the perspectives of patients should be included in decision-making about genomic data, patients rarely have a significant role in the governance of genomic data archives (GDAs). Guidance on the successful implementation of patient involvement (PI) in the governance of GDAs is lacking. This study explores the perspectives of German patients on PI in the governance of GDAs and how these perspectives can be implemented to have an impact on governance.</p><p><strong>Methods: </strong>We conducted 2 online deliberative forums with 26 members of the cancer and rare diseases (RD) communities in Germany. The forums were analyzed qualitatively. The findings were discussed in a follow-up dialogue event with 17 of the participants and 9 members of a GDA (The German Human Genome-Phenome Archive, GHGA) (n = 26). Two patient coresearchers were involved in all phases of the study.</p><p><strong>Results: </strong>Five themes were identified: (a) motivations for PI; (b) concerns about PI; (c) areas of governance in which PI is required; (d) resources necessary for implementation of PI; and (e) the form PI should take.</p><p><strong>Conclusion: </strong>For PI in GDAs to be meaningful, patient perspectives on the specific contextual aspects of GDAs should be actively sought. Patients' views on representation affect what form of PI they prefer and whether they experience the representation as legitimate. We discuss how the suggestions from the participants of this study were taken up in the governance policy of the GHGA.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"217-228"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluating the Applied Knowledge of BRCA Testing among Spanish-Preferring Latino Americans: The Influence of Acculturation and Literacy. 评价偏爱西班牙语的拉美裔美国人BRCA测试的应用知识:文化适应和读写能力的影响。
IF 2.2 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-06-18 DOI: 10.1159/000546903
Yi Liao, Daniel Chavez-Yenter, Kimberly A Kaphingst
{"title":"Evaluating the Applied Knowledge of BRCA Testing among Spanish-Preferring Latino Americans: The Influence of Acculturation and Literacy.","authors":"Yi Liao, Daniel Chavez-Yenter, Kimberly A Kaphingst","doi":"10.1159/000546903","DOIUrl":"10.1159/000546903","url":null,"abstract":"<p><strong>Introduction: </strong>This study examined applied knowledge about BRCA testing among Spanish-preferring Latino adults in the USA and identifies factors influencing this knowledge, addressing gaps in understanding genetic literacy within this demographic.</p><p><strong>Methods: </strong>A national survey was conducted with 196 Spanish-preferring Latino adults. Participants completed a questionnaire measuring applied knowledge of BRCA testing, acculturation variables, and literacy measures. Linear regression analysis explored relationships between these factors and applied knowledge scores.</p><p><strong>Results: </strong>The mean applied knowledge score was 2.33 out of 6, with 26.7% of participants scoring zero. Regression analysis revealed that younger age, female, higher education, higher e-health literacy, and higher numeracy were associated with greater applied knowledge. US identity and critical media literacy were negatively associated with applied knowledge scores.</p><p><strong>Conclusion: </strong>Spanish-preferring Latino adults demonstrated lower applied knowledge of BRCA testing compared to the general US population, highlighting a significant knowledge disparity. The study identified key factors influencing applied knowledge, such as age, ethnic identity, and e-health literacy, providing insights for developing targeted interventions to improve genetic literacy in this population. These findings can inform culturally competent genetic education initiatives to enhance health outcomes and decision-making regarding genetic testing among Spanish-preferring Latinos.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"229-240"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12266692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reporting Modifications from the IMPACT-FH Study Using the FRAME-IS. 使用FRAME-IS报告IMPACT-FH研究的修改。
IF 2.2 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-04-21 DOI: 10.1159/000545974
Christie Gilbert Klaczko, Nicole L Walters, Andrew Brangan, Mary P McGowan, Amy C Sturm, Alanna Kulchak Rahm, Gemme Campbell-Salome, Laney K Jones
{"title":"Reporting Modifications from the IMPACT-FH Study Using the FRAME-IS.","authors":"Christie Gilbert Klaczko, Nicole L Walters, Andrew Brangan, Mary P McGowan, Amy C Sturm, Alanna Kulchak Rahm, Gemme Campbell-Salome, Laney K Jones","doi":"10.1159/000545974","DOIUrl":"10.1159/000545974","url":null,"abstract":"<p><strong>Introduction: </strong>Familial hypercholesterolemia (FH), a genetic condition that causes lifelong exposure to elevated LDL-cholesterol, can lead to severe life-threatening cardiac outcomes if untreated. Often undiagnosed, widespread implementation of FH screening programs is needed. The IMPACT-FH pragmatic research trial developed and tested a cascade testing program, which included three implementation strategies. Implementation strategies require modification across geographic locations and institutions.</p><p><strong>Methods: </strong>Here we report the modifications made throughout the IMPACT-FH cascade testing program for at-risk relatives of patients with FH from Geisinger's MyCode Community Health Initiative (MyCode®) and MyCode Genomic Screening and Counseling Program. The program was introduced to FH probands upon return of their genetically confirmed FH results from MyCode. The implementation strategies employed included an informational packet, chatbots, and direct contact. Modifications to the IMPACT-FH cascade testing program (intervention) and its implementation strategies were extracted from meeting recordings and interviews. We used FRAME-IS to code the nature, goal, timing, and impact of the changes on the program.</p><p><strong>Results: </strong>In total, eleven modifications were made. All modifications were initiated during the implementation phase of the study, were unplanned/reactive, and were made to optimize the fit of the program and strategies for FH probands and their families. Modifications were made to the overall IMPACT-FH cascade testing program (n = 3), the chatbot strategies (n = 3), and the direct contact strategy (n = 5). No modifications were made to the informational packet strategy.</p><p><strong>Conclusions: </strong>Flexibility and reactive modifications played a key role in the successful implementation of the cascade testing program within the IMPACT-FH pragmatic research trial.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"205-216"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12167676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring Dutch Citizens' Perspectives, Expectations, and Decision-Making Regarding Health-Related Direct-to-Consumer Genetic Testing. 探索荷兰公民对健康相关的直接面向消费者的基因检测(DTC-GT)的观点、期望和决策。
IF 2.2 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-07-22 DOI: 10.1159/000547527
Danny Bruins, Suzanne M Onstwedder, Martina C Cornel, Marc H W van Mil, Margreet G E M Ausems, Olga C Damman, Tessel Rigter
{"title":"Exploring Dutch Citizens' Perspectives, Expectations, and Decision-Making Regarding Health-Related Direct-to-Consumer Genetic Testing.","authors":"Danny Bruins, Suzanne M Onstwedder, Martina C Cornel, Marc H W van Mil, Margreet G E M Ausems, Olga C Damman, Tessel Rigter","doi":"10.1159/000547527","DOIUrl":"10.1159/000547527","url":null,"abstract":"<p><p><p>Introduction: Qualitative insights into European citizens' beliefs, expectations, attitudes, and factors relevant for decision-making regarding health-related direct-to-consumer genetic testing (DTC-GT) are scarce. Assessment thereof is essential to eventually empower them for informed decision-making and responsible use regarding DTC-GT.</p><p><strong>Methods: </strong>Twenty semi-structured, in-person interviews were conducted with a cohort of sociodemographically diverse Dutch citizens. During the interview, participants viewed an informative video regarding DTC-GT to ensure baseline knowledge, and hypothetical company materials, including an estimated disease risk, to assess the reactions of citizens to such materials. Interviews were transcribed verbatim and thematically analyzed.</p><p><strong>Results: </strong>Participants were generally unaware of health-related DTC-GT prior to the interview invite. Participants expressed sizeable expectations across the entire DTC-GT consumer journey and demonstrated several recurring misconceptions. Participants also indicated distrust towards DTC-GT sellers and their practices and expressed dissatisfaction concerning the hypothetical results they received. Most participants indicated they would not be willing to undergo DTC-GT but provided argumentation and weight of each argument was unique to each participant, indicating unique decision-making processes. Price was an important modifying factor in participants' decision-making. Participants suggested information provision by independent parties, development of quality marks, and implementation of enforceable regulation and legislation to support their decision-making.</p><p><strong>Conclusions: </strong>Participants' expectations regarding health-related DTC-GT and towards DTC-GT sellers appear sizeable and decision-making very personal. Stimulating informed decision-making through enhancement of information provision, (social) media campaigns, education, development of quality marks, and implementation of enforceable regulation and legislation could aid in empowering citizens for responsible use of DTC-GT. </p>.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"252-273"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503568/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of MTHFR Gene with Type 2 Diabetes Mellitus: A Case-Control Study and Meta-Analysis. MTHFR基因与2型糖尿病的相关性:病例对照研究和荟萃分析
IF 2.2 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-04-21 DOI: 10.1159/000545731
Qian Huang, WeiWei Chang, YuanYuan Wang, HeQiao Zhang, JiaMou Zhou, HuiYan Shen, LinSheng Yang, DongMei Zhang, GuiMei Chen
{"title":"Association of MTHFR Gene with Type 2 Diabetes Mellitus: A Case-Control Study and Meta-Analysis.","authors":"Qian Huang, WeiWei Chang, YuanYuan Wang, HeQiao Zhang, JiaMou Zhou, HuiYan Shen, LinSheng Yang, DongMei Zhang, GuiMei Chen","doi":"10.1159/000545731","DOIUrl":"10.1159/000545731","url":null,"abstract":"<p><strong>Introduction: </strong>Multiple studies have shown that genetic polymorphism in the MTHFR gene is associated with susceptibility to type 2 diabetes mellitus (T2DM), but the results remain controversial. This study was divided into two parts. The first part was to explore the relationship between the SNPs of MTHFR gene (C677T and A1298C) and genetic susceptibility to T2DM. Second, a meta-analysis was performed to evaluate the association between C677T gene and T2DM.</p><p><strong>Methods: </strong>A case-control study was conducted to assess the association of MTHFR polymorphisms with T2DM risk. A meta-analysis including 7 studies was conducted by using Stata 17.0 software.</p><p><strong>Results: </strong>In case-control study at the C677T (rs1801133), we found that compared with the AA genotype, GG + GA genotype was associated with an increased risk of T2DM (OR = 1.605; 95% CI: 1.229-2.095; p = 0.001); compared with the GG/GA genotype, AA genotype was associated with a decreased risk of T2DM (OR = 0.620; 95% CI: 0.450-0.855; p = 0.004; OR = 0.625; 95% CI: 0.470-0.830; p = 0.001). After adjusting for age, gender, and BMI statistical differences persisted. In case-control study at the A1298C (rs1801131), there was no significant association in all genetic models after adjusting for age, gender, and BMI. In the overall meta-analysis of the C677T gene, significant heterogeneity was detected in the recessive model (I2 = 89.84%, p < 0.01) and allele model (I2 = 88.38%, p < 0.01). Subgroup analysis showed that there was a significant association in the recessive model (I2 = 76.52%, p < 0.01; OR = 2.27, 95% CI: 1.16-4.44) under random-effects models in Asians.</p><p><strong>Conclusions: </strong>The results suggest that the C677T polymorphism might have ethnicity-dependent effects in T2DM and may be associated with susceptibility to T2DM in Asians.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"163-175"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Achieving the Vision of Genomics to Improve Health for All Requires a Focus on Diversity, Equity, and Inclusion. 实现基因组学改善全民健康的愿景需要关注多样性、公平和包容。
IF 2.2 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-07-28 DOI: 10.1159/000547309
Muin J Khoury, Colleen M McBride, Martina C Cornel
{"title":"Achieving the Vision of Genomics to Improve Health for All Requires a Focus on Diversity, Equity, and Inclusion.","authors":"Muin J Khoury, Colleen M McBride, Martina C Cornel","doi":"10.1159/000547309","DOIUrl":"10.1159/000547309","url":null,"abstract":"","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"274-277"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144734939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results. 卫生系统主导的早期同意和直接联系高危亲属:试点研究结果。
IF 2.2 4区 医学
Public Health Genomics Pub Date : 2025-01-01 Epub Date: 2025-04-03 DOI: 10.1159/000545404
Nora B Henrikson, Aaron Scrol, Jamilyn M Zepp, Melissa L Anderson, Paula R Blasi, John J Ewing, Jane Grafton, James D Ralston, Stephanie M Fullerton, Kathleen A Leppig
{"title":"Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results.","authors":"Nora B Henrikson, Aaron Scrol, Jamilyn M Zepp, Melissa L Anderson, Paula R Blasi, John J Ewing, Jane Grafton, James D Ralston, Stephanie M Fullerton, Kathleen A Leppig","doi":"10.1159/000545404","DOIUrl":"10.1159/000545404","url":null,"abstract":"<p><strong>Introduction: </strong>At-risk relatives of probands with genetic variants associated with hereditary cancer risk should receive cascade genetic testing. In the USA, probands are expected to notify their own at-risk relatives, but many relatives never learn of their risk, representing missed opportunity to reduce morbidity and mortality associated with hereditary cancers. Direct contact of relatives could reach relatives not contacted by the proband. We conducted a single-arm, prospective pilot evaluation of a direct contact intervention based on patient and family preferences. Here, we report the study's quantitative results, measured by proband and relative participation in the intervention follow-up survey.</p><p><strong>Methods: </strong>We recruited adults receiving genetic counseling for inherited cancer risk at one US integrated health system. A genetic counselor offered to contact at-risk relatives. We surveyed probands and relatives at study enrollment and 6-8 weeks and evaluated administrative data to assess the program's outreach to probands and relatives, its acceptability, and its limited efficacy.</p><p><strong>Results: </strong>We approached 148 probands before their genetic counseling appointment. Fifty-five (37%) consented to study participation. Of these, 31 completed genetic testing, 29 of whom provided consent to contact 101 relatives. Forty-four percent (n = 45) of relatives consented to be contacted by the study genetic counselor. Acceptability was high for both groups and no harms were reported. All relatives reached (n = 43) received their proband's test results, including 6 pathogenic/likely pathogenic findings.</p><p><strong>Conclusion: </strong>A direct contact program was acceptable, reached at-risk relatives, and communicated proband test results. Direct contact with early consent of relatives holds promise for future research.</p>","PeriodicalId":49650,"journal":{"name":"Public Health Genomics","volume":" ","pages":"150-162"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12074871/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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