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
The impact of English-centric training for multilingual genetic counseling practice: A commentary 以英语为中心的培训对多语言遗传咨询实践的影响：评论
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.101872
C. Altemura , D. Diaz Caro , N. Fife , V. Giacomazzi , M. Sumarroca
{"title":"The impact of English-centric training for multilingual genetic counseling practice: A commentary","authors":"C. Altemura , D. Diaz Caro , N. Fife , V. Giacomazzi , M. Sumarroca","doi":"10.1016/j.gimo.2024.101872","DOIUrl":"10.1016/j.gimo.2024.101872","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101872"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141851946","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 global status of genetic counselors in 2023: What has changed in the past 5 years? 2023年遗传咨询师的全球地位：过去5年发生了什么变化？
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.101887
Kelly E. Ormond , Peter James Abad , Rhona MacLeod , Masakazu Nishigaki , Tina-Marié Wessels
{"title":"The global status of genetic counselors in 2023: What has changed in the past 5 years?","authors":"Kelly E. Ormond ,&nbsp;Peter James Abad ,&nbsp;Rhona MacLeod ,&nbsp;Masakazu Nishigaki ,&nbsp;Tina-Marié Wessels","doi":"10.1016/j.gimo.2024.101887","DOIUrl":"10.1016/j.gimo.2024.101887","url":null,"abstract":"<div><h3>Purpose</h3><div>The profession of genetic counselors has existed for over 50 years. This article provides an update on the global state of the genetic counseling (GC) profession in 2022 and 2023.</div></div><div><h3>Methods</h3><div>We used a survey approach to collect data from individuals who were identified as being leaders in GC practice and/or education around the world.</div></div><div><h3>Results</h3><div>Based on responses provided between October 2023 and January 2024, we estimate that there are over 10,250 genetic counselors in over 45 countries around the world. These numbers have increased significantly in the past 5 years, when there were ∼7000 genetic counselors. Key factors identified as driving the increase in genetic counselors are the number of training programs that have developed (&gt;130 globally, mostly at a master’s degree level) and a growing number of national biobanks and/or population screening programs that require GC as part of the process. There is tremendous variability in how genetic counselors are regulated, with only a few countries holding national statutory regulation processes. There are many commonalities, but the GC profession appears nuanced to their specific country and its wider socio-political context and history.</div></div><div><h3>Conclusion</h3><div>We hope that genetic counselors internationally will come together to assist each other in all aspects: training, statutory regulation, developing the workforce, and establishing GC as an academic discipline. We envision that establishing an international organization for the profession of genetic counselors might maintain such international connections and provide relevant data in future years.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 101887"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11658554/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142879441","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
P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial P012:治疗典型高胱氨酸尿症的酶替代疗法--Pegtibatinase：COMPOSE 1/2期试验的最新发现
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100889
Can Ficicioglu , Jaya Ganesh , Wendy Smith , Melissa Lah , David Kudrow , Jalé Güner , Sharon McDermott , Sagar Vaidya , Liz Wilkening , Janet Thomas , Harvey Levy
{"title":"P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial","authors":"Can Ficicioglu ,&nbsp;Jaya Ganesh ,&nbsp;Wendy Smith ,&nbsp;Melissa Lah ,&nbsp;David Kudrow ,&nbsp;Jalé Güner ,&nbsp;Sharon McDermott ,&nbsp;Sagar Vaidya ,&nbsp;Liz Wilkening ,&nbsp;Janet Thomas ,&nbsp;Harvey Levy","doi":"10.1016/j.gimo.2024.100889","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100889","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100889"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000359/pdfft?md5=ec34a470c8d0f389f8dccc6884413ac7&pid=1-s2.0-S2949774424000359-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061770","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
P082: Increased risk of hematolymphoid neoplasms in individuals with heterozygous deletion of a Fanconi anemia gene P082：范可尼贫血基因杂合子缺失者罹患血淋巴肿瘤的风险增加
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100964
Taimoor Sheikh , Abigail Peffer , Daniel Bellissimo , Mahmoud Aarabi , Svetlana Yatsenko
{"title":"P082: Increased risk of hematolymphoid neoplasms in individuals with heterozygous deletion of a Fanconi anemia gene","authors":"Taimoor Sheikh ,&nbsp;Abigail Peffer ,&nbsp;Daniel Bellissimo ,&nbsp;Mahmoud Aarabi ,&nbsp;Svetlana Yatsenko","doi":"10.1016/j.gimo.2024.100964","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100964","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100964"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424001109/pdfft?md5=316311e9e36c29085c2286bacc418a8f&pid=1-s2.0-S2949774424001109-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061776","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: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank P026：在一个大型中东生物库中发现的可治疗遗传性代谢紊乱的基因谱
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100903
Geethanjali Devadoss Gandhi , Najeeb Syed , Fazulur Vempalli , Mona Abdi , Elbay Aliyev , Navaneethakrishnan Krishnamoorthy , Chadi Saad , Hamdi Mbarek , Ramin Badii , Qatar Genome Program Research Consortium , Ammira Akil , Tawfeg Ben-Omran , Khalid Fakhro
{"title":"P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank","authors":"Geethanjali Devadoss Gandhi ,&nbsp;Najeeb Syed ,&nbsp;Fazulur Vempalli ,&nbsp;Mona Abdi ,&nbsp;Elbay Aliyev ,&nbsp;Navaneethakrishnan Krishnamoorthy ,&nbsp;Chadi Saad ,&nbsp;Hamdi Mbarek ,&nbsp;Ramin Badii ,&nbsp;Qatar Genome Program Research Consortium ,&nbsp;Ammira Akil ,&nbsp;Tawfeg Ben-Omran ,&nbsp;Khalid Fakhro","doi":"10.1016/j.gimo.2024.100903","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100903","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100903"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000499/pdfft?md5=6e2e46a9e1e80a981f9983e7e74e58da&pid=1-s2.0-S2949774424000499-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061890","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
P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease P021:硫胺素焦磷激酶缺乏症表型的扩展：一种可治疗的利氏病病因，包括严重的神经病性疾病
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100898
Jennifer Harmon , Olivier Fortin , Jason Schroeder , Laura Tochen , Jamie Fraser
{"title":"P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease","authors":"Jennifer Harmon ,&nbsp;Olivier Fortin ,&nbsp;Jason Schroeder ,&nbsp;Laura Tochen ,&nbsp;Jamie Fraser","doi":"10.1016/j.gimo.2024.100898","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100898","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100898"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S294977442400044X/pdfft?md5=d3aeafcfad88c4287bf1e7a1643b0df2&pid=1-s2.0-S294977442400044X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062039","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
P069: Clinical and genomic spectrum of Lynch syndrome in Thailand: A 7-year experience of cancer genetic testing at Siriraj Genomics P069:泰国林奇综合征的临床和基因组谱：Siriraj Genomics 癌症基因检测的 7 年经验
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100951
Chalermkiat Kansuttiviwat , Pongtawat Lertwilaiwittaya , Ekkapong Roothumnong , Panee Nakthong , Peerawat Dungort , Chutima Meesamarnpong , Warisara Tansa-Nga , Khontawan Pongsuktavorn , Supakit Wiboonthanasarn , Warunya Tititumjariya , Nannipa Phuphuripan , Chittapat Lertbussarakam , Jantanee Wattanarangsan , Jiraporn Sritun , Kittiporn Punuch , Jirayu Kammarabutr , Wanna Thongnoppakhun , Chanin Limwongse , Manop Pithukpakorn
{"title":"P069: Clinical and genomic spectrum of Lynch syndrome in Thailand: A 7-year experience of cancer genetic testing at Siriraj Genomics","authors":"Chalermkiat Kansuttiviwat ,&nbsp;Pongtawat Lertwilaiwittaya ,&nbsp;Ekkapong Roothumnong ,&nbsp;Panee Nakthong ,&nbsp;Peerawat Dungort ,&nbsp;Chutima Meesamarnpong ,&nbsp;Warisara Tansa-Nga ,&nbsp;Khontawan Pongsuktavorn ,&nbsp;Supakit Wiboonthanasarn ,&nbsp;Warunya Tititumjariya ,&nbsp;Nannipa Phuphuripan ,&nbsp;Chittapat Lertbussarakam ,&nbsp;Jantanee Wattanarangsan ,&nbsp;Jiraporn Sritun ,&nbsp;Kittiporn Punuch ,&nbsp;Jirayu Kammarabutr ,&nbsp;Wanna Thongnoppakhun ,&nbsp;Chanin Limwongse ,&nbsp;Manop Pithukpakorn","doi":"10.1016/j.gimo.2024.100951","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100951","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100951"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000979/pdfft?md5=fe38576b059fe3a1b200806f1af08234&pid=1-s2.0-S2949774424000979-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062042","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
P022: Exploring preanalytical factors impacting plasma cell-free miRNA-451 levels P022：探索影响血浆细胞游离 miRNA-451 水平的分析前因素
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100899
Dinesh Chandel , Wesley Tom , Gary Krzyzanowski , M. Rohan Fernando
{"title":"P022: Exploring preanalytical factors impacting plasma cell-free miRNA-451 levels","authors":"Dinesh Chandel ,&nbsp;Wesley Tom ,&nbsp;Gary Krzyzanowski ,&nbsp;M. Rohan Fernando","doi":"10.1016/j.gimo.2024.100899","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100899","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100899"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424000451/pdfft?md5=d1f09890c078a9e81431eb5e3fbe7095&pid=1-s2.0-S2949774424000451-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062049","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
P083: Prevalence and penetrance of LZTR1 pathogenic variants: To screen or not to screen? P083：LZTR1致病变体的患病率和渗透性：筛查还是不筛查？
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100965
Susan Shehayeb , Hunaydah Elfarawi , Kaila Wilson , Wai Park , Anuja Chitre , Lawrence Shaktah , Duveen Sturgeon , Kevin McDonnell , Heather Hampel , Alexandra Capasso , Stacy Gray
{"title":"P083: Prevalence and penetrance of LZTR1 pathogenic variants: To screen or not to screen?","authors":"Susan Shehayeb ,&nbsp;Hunaydah Elfarawi ,&nbsp;Kaila Wilson ,&nbsp;Wai Park ,&nbsp;Anuja Chitre ,&nbsp;Lawrence Shaktah ,&nbsp;Duveen Sturgeon ,&nbsp;Kevin McDonnell ,&nbsp;Heather Hampel ,&nbsp;Alexandra Capasso ,&nbsp;Stacy Gray","doi":"10.1016/j.gimo.2024.100965","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100965","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100965"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424001110/pdfft?md5=4d9fda4b0a411358f0978416f17ac5b1&pid=1-s2.0-S2949774424001110-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062086","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
P077: Have we considered mosaicism? A nearly missed molecular diagnosis of von Hippel-Lindau P077：我们是否考虑过马赛克现象？几乎漏诊的冯-希佩尔-林道病的分子诊断
Genetics in Medicine Open Pub Date : 2024-01-01 DOI: 10.1016/j.gimo.2024.100959
Wai Park , Elyssa Zukin , Rachelle Manookian , Kevin McDonnell , Szabolcs Szelinger , Ali Zhumkhawala , Stacy Gray
{"title":"P077: Have we considered mosaicism? A nearly missed molecular diagnosis of von Hippel-Lindau","authors":"Wai Park ,&nbsp;Elyssa Zukin ,&nbsp;Rachelle Manookian ,&nbsp;Kevin McDonnell ,&nbsp;Szabolcs Szelinger ,&nbsp;Ali Zhumkhawala ,&nbsp;Stacy Gray","doi":"10.1016/j.gimo.2024.100959","DOIUrl":"https://doi.org/10.1016/j.gimo.2024.100959","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"2 ","pages":"Article 100959"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2949774424001055/pdfft?md5=8ccd378bff9d111d374744d0d76645b6&pid=1-s2.0-S2949774424001055-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140062155","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
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：481959085
Book学术官方微信