发布求助
文献互助 智能选刊 最新文献

Genetics in Medicine Open最新文献

筛选
英文 中文
When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research 当家庭弥合研究-临床鸿沟：基因组研究中关于级联筛选的价值探索
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.103440
Katherine E. Bonini , Lauren R. Desrosiers-Battu , Ann Katherine M. Foreman , Nuriye N. Sahin-Hodoglugil , Mary A. Majumder , Candice R. Finnila , Stephanie A. Kraft , Laura M. Amendola , Eimear E. Kenny , Stephanie M. Fullerton , Sara L. Ackerman , Benjamin S. Wilfond , Amy L. McGuire , Hadley Stevens Smith
{"title":"When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research","authors":"Katherine E. Bonini ,&nbsp;Lauren R. Desrosiers-Battu ,&nbsp;Ann Katherine M. Foreman ,&nbsp;Nuriye N. Sahin-Hodoglugil ,&nbsp;Mary A. Majumder ,&nbsp;Candice R. Finnila ,&nbsp;Stephanie A. Kraft ,&nbsp;Laura M. Amendola ,&nbsp;Eimear E. Kenny ,&nbsp;Stephanie M. Fullerton ,&nbsp;Sara L. Ackerman ,&nbsp;Benjamin S. Wilfond ,&nbsp;Amy L. McGuire ,&nbsp;Hadley Stevens Smith","doi":"10.1016/j.gimo.2025.103440","DOIUrl":"10.1016/j.gimo.2025.103440","url":null,"abstract":"<div><h3>Purpose</h3><div>Genetic results are important for both patients and their biological relatives. However, cascade screening (CS) uptake is low, especially when testing occurs through research programs and not clinical care. Ethical guidance is needed for CS implementation when individuals receive clinical genetic results through research.</div></div><div><h3>Methods</h3><div>We conducted focus groups with 3 groups of individuals in the Clinical Sequencing Evidence-Generating Research Consortium: clinicians, patient representatives, and scholars of the ethical, legal, and social implications of genomics. We used inductive thematic and comparative analyses to analyze data within and across the groups.</div></div><div><h3>Results</h3><div>All participants (<em>n</em> = 27) agreed that researchers have an obligation to provide resources to participants about CS and generally felt that answering genetics-related questions from participants’ relatives was appropriate. However, there was disagreement regarding whether studies are obliged to fund genetic testing for relatives. Participants’ rationales were rooted in attitudes about the clinical-research interface, influences on research enrollment, inclusion of underrepresented communities, and appropriate stewardship of funds.</div></div><div><h3>Conclusion</h3><div>Ethical tensions and logistical hurdles arise when considering CS that bridges research and clinical settings. Additional study of the appropriateness and feasibility of testing for relatives, especially in genomics in which distinctions between research and clinical care are often blurred, is needed.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 103440"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144687409","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
34: A new and efficient analysis and reporting workflow for hematological malignancies 34：全新、高效的血液恶性肿瘤分析和报告工作流程
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2024.101951
Benjamin Clifford, Trilochan Sahoo, Jennifer Hauenstein, Jenna Finley, Andy Wing Chun Pang, Alex R. Hastie
{"title":"34: A new and efficient analysis and reporting workflow for hematological malignancies","authors":"Benjamin Clifford,&nbsp;Trilochan Sahoo,&nbsp;Jennifer Hauenstein,&nbsp;Jenna Finley,&nbsp;Andy Wing Chun Pang,&nbsp;Alex R. Hastie","doi":"10.1016/j.gimo.2024.101951","DOIUrl":"10.1016/j.gimo.2024.101951","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101951"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143561845","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
P010: Assessment of gestational age and birthweight in patients with metabolic conditions included in CLIR P010: CLIR中代谢疾病患者的胎龄和出生体重评估
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102854
Kathleen Renna , Patricia Hall , Tina Cowan , Christina Tise , Annie Niehaus
{"title":"P010: Assessment of gestational age and birthweight in patients with metabolic conditions included in CLIR","authors":"Kathleen Renna ,&nbsp;Patricia Hall ,&nbsp;Tina Cowan ,&nbsp;Christina Tise ,&nbsp;Annie Niehaus","doi":"10.1016/j.gimo.2025.102854","DOIUrl":"10.1016/j.gimo.2025.102854","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102854"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636267","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
P026: Interim analysis of the efficacy and safety of weekly intravenous tividenofusp alfa in mucopolysaccharidosis type II: A phase 1/2 study P026：每周静脉注射维维诺霉素治疗II型粘多糖病的疗效和安全性的中期分析：1/2期研究
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102870
Barbara Burton , Joseph Muenzer , Paul Harmatz , Deepa Rajan , Simon Jones , Johanna van den Hout , John Mitchell , Matthew Troyer , Natalie Engmann , Rupa Caprihan , Akhil Bhalla , Imanol Zubizarreta , Arlette Weichert , Peter Chin , Carole Ho
{"title":"P026: Interim analysis of the efficacy and safety of weekly intravenous tividenofusp alfa in mucopolysaccharidosis type II: A phase 1/2 study","authors":"Barbara Burton ,&nbsp;Joseph Muenzer ,&nbsp;Paul Harmatz ,&nbsp;Deepa Rajan ,&nbsp;Simon Jones ,&nbsp;Johanna van den Hout ,&nbsp;John Mitchell ,&nbsp;Matthew Troyer ,&nbsp;Natalie Engmann ,&nbsp;Rupa Caprihan ,&nbsp;Akhil Bhalla ,&nbsp;Imanol Zubizarreta ,&nbsp;Arlette Weichert ,&nbsp;Peter Chin ,&nbsp;Carole Ho","doi":"10.1016/j.gimo.2025.102870","DOIUrl":"10.1016/j.gimo.2025.102870","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102870"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636821","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
P030: Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia P030：来自PHEFREE的最新消息：美国国立卫生研究院高苯丙氨酸血症罕见病联盟
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102874
Georgianne Arnold , Hadley Morotti , Gerard Berry , Shawn Christ , Dorothy Grange , Cary Harding , Elaina Jurecki , Uta Lichter-Konecki , Harvey Levy , Nicola Longo , Stephanie Sacharow , Brian Shayota , Janet Thomas , Desiree White
{"title":"P030: Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia","authors":"Georgianne Arnold ,&nbsp;Hadley Morotti ,&nbsp;Gerard Berry ,&nbsp;Shawn Christ ,&nbsp;Dorothy Grange ,&nbsp;Cary Harding ,&nbsp;Elaina Jurecki ,&nbsp;Uta Lichter-Konecki ,&nbsp;Harvey Levy ,&nbsp;Nicola Longo ,&nbsp;Stephanie Sacharow ,&nbsp;Brian Shayota ,&nbsp;Janet Thomas ,&nbsp;Desiree White","doi":"10.1016/j.gimo.2025.102874","DOIUrl":"10.1016/j.gimo.2025.102874","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102874"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636870","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
P039: Neuropsychiatric symptom burden of cerebrotendinous xanthomatosis, the importance of diagnosing early, and the impact of CDCA treatment: A US-based survey P039：脑腱黄瘤病的神经精神症状负担、早期诊断的重要性以及CDCA治疗的影响：一项美国调查
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102883
Florian Eichler , Christie Higuera , Brian Wishart , Bobbi Blanchard , George Bryce , Neel Odedara , Shawn Laurie , Rana Dutta , Jolan Terner-Rosenthal , Raul Aguilar , Tiziano Pramparo , Pamela Vig , Jean Pickford
{"title":"P039: Neuropsychiatric symptom burden of cerebrotendinous xanthomatosis, the importance of diagnosing early, and the impact of CDCA treatment: A US-based survey","authors":"Florian Eichler ,&nbsp;Christie Higuera ,&nbsp;Brian Wishart ,&nbsp;Bobbi Blanchard ,&nbsp;George Bryce ,&nbsp;Neel Odedara ,&nbsp;Shawn Laurie ,&nbsp;Rana Dutta ,&nbsp;Jolan Terner-Rosenthal ,&nbsp;Raul Aguilar ,&nbsp;Tiziano Pramparo ,&nbsp;Pamela Vig ,&nbsp;Jean Pickford","doi":"10.1016/j.gimo.2025.102883","DOIUrl":"10.1016/j.gimo.2025.102883","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102883"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636569","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
P087: Response to ketone therapy in an unusual case of type 1 multiple Acyl-CoA dehydrogenase deficiency P087: 1型多重酰基辅酶a脱氢酶缺乏症患者对酮治疗的反应
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102931
Grace Raines , Caterina Abdala Villa , Kristen Linscott , Daniel Sharer , Pongtawat Lertwilaiwittaya , Nathaniel Robin , Alicia Roberts
{"title":"P087: Response to ketone therapy in an unusual case of type 1 multiple Acyl-CoA dehydrogenase deficiency","authors":"Grace Raines ,&nbsp;Caterina Abdala Villa ,&nbsp;Kristen Linscott ,&nbsp;Daniel Sharer ,&nbsp;Pongtawat Lertwilaiwittaya ,&nbsp;Nathaniel Robin ,&nbsp;Alicia Roberts","doi":"10.1016/j.gimo.2025.102931","DOIUrl":"10.1016/j.gimo.2025.102931","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102931"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636594","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
P086: Sensorineural hearing loss in a child with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) treated with cochlear implantation 耳蜗植入治疗线粒体神经胃肠道脑肌病（MNGIE）患儿的感音神经性听力损失
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102930
Michael Finkel , Kelly Kennelly , Vinod Misra
{"title":"P086: Sensorineural hearing loss in a child with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) treated with cochlear implantation","authors":"Michael Finkel ,&nbsp;Kelly Kennelly ,&nbsp;Vinod Misra","doi":"10.1016/j.gimo.2025.102930","DOIUrl":"10.1016/j.gimo.2025.102930","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102930"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636608","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
P019: Comparison of treatment efficacy of very long chain acyl-CoA (VLCAD) deficiency with an AAV9.hVLCAD vector, synthetic VLCAD mRNA, and triheptanoin P019：超长链酰基辅酶a （VLCAD）缺乏症与AAV9治疗效果比较。hVLCAD载体，合成VLCAD mRNA和三庚烷酸
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102863
Jerry Vockley , Shakuntala Basu , Xue-Jun Zhao , Bianca Seminotti , Clinton Van't Land , Al-Walid Mohsen
{"title":"P019: Comparison of treatment efficacy of very long chain acyl-CoA (VLCAD) deficiency with an AAV9.hVLCAD vector, synthetic VLCAD mRNA, and triheptanoin","authors":"Jerry Vockley ,&nbsp;Shakuntala Basu ,&nbsp;Xue-Jun Zhao ,&nbsp;Bianca Seminotti ,&nbsp;Clinton Van't Land ,&nbsp;Al-Walid Mohsen","doi":"10.1016/j.gimo.2025.102863","DOIUrl":"10.1016/j.gimo.2025.102863","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102863"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636902","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
P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation P023：利用基因组数据库估计罕见病患病率：在丙酰辅酶a氧化障碍中的应用
Genetics in Medicine Open Pub Date : 2025-01-01 DOI: 10.1016/j.gimo.2025.102867
Jennifer Sloan , Camryn Hall , Irini Manoli , Charles Venditti
{"title":"P023: Using genomic databases to estimate rare disease prevalence: Application to disorders of propionyl-CoA oxidation","authors":"Jennifer Sloan ,&nbsp;Camryn Hall ,&nbsp;Irini Manoli ,&nbsp;Charles Venditti","doi":"10.1016/j.gimo.2025.102867","DOIUrl":"10.1016/j.gimo.2025.102867","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102867"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636906","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
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：604180095
Book学术官方微信