针对单基因遗传病的产前和胚胎植入前基因检测,以确定种系癌症易感基因变异:英国遗传医学会联合共识指南摘要

Mohamed Wafik, Anjana Kulkarni
{"title":"针对单基因遗传病的产前和胚胎植入前基因检测,以确定种系癌症易感基因变异:英国遗传医学会联合共识指南摘要","authors":"Mohamed Wafik,&nbsp;Anjana Kulkarni","doi":"10.1016/j.ogrm.2024.04.004","DOIUrl":null,"url":null,"abstract":"<div><p>The previous lack of national UK guidance on the use of Prenatal and Pre-implantation Genetic Testing (PND and PGT-M) for Monogenic Disorders for Germline Cancer Susceptibility Gene Variants (gCSGV) has led to disparities in care across the UK, and inequitable access to reproductive options for families living with cancer susceptibility syndromes. In 2023, the UK Cancer Genetics Group and Fetal Genomics Group of the British Society of Genetic Medicine developed joint consensus guidance seeking to provide healthcare professionals with a clear counselling framework to support individuals/couples during their reproductive decision-making process. The guidance is for healthcare professionals, individuals and couples with a gCSGV and their families, policy makers and charities supporting people with cancer susceptibility syndromes. Details about the consensus group participants, the main workshop's format, and the pre- and post-workshop nationwide surveys, are available in the full document.</p></div>","PeriodicalId":53410,"journal":{"name":"Obstetrics, Gynaecology and Reproductive Medicine","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prenatal and pre-implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: summary of the UK British Society for Genetic Medicine joint consensus guidance\",\"authors\":\"Mohamed Wafik,&nbsp;Anjana Kulkarni\",\"doi\":\"10.1016/j.ogrm.2024.04.004\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The previous lack of national UK guidance on the use of Prenatal and Pre-implantation Genetic Testing (PND and PGT-M) for Monogenic Disorders for Germline Cancer Susceptibility Gene Variants (gCSGV) has led to disparities in care across the UK, and inequitable access to reproductive options for families living with cancer susceptibility syndromes. In 2023, the UK Cancer Genetics Group and Fetal Genomics Group of the British Society of Genetic Medicine developed joint consensus guidance seeking to provide healthcare professionals with a clear counselling framework to support individuals/couples during their reproductive decision-making process. The guidance is for healthcare professionals, individuals and couples with a gCSGV and their families, policy makers and charities supporting people with cancer susceptibility syndromes. Details about the consensus group participants, the main workshop's format, and the pre- and post-workshop nationwide surveys, are available in the full document.</p></div>\",\"PeriodicalId\":53410,\"journal\":{\"name\":\"Obstetrics, Gynaecology and Reproductive Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetrics, Gynaecology and Reproductive Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1751721424000630\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrics, Gynaecology and Reproductive Medicine","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1751721424000630","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

此前,英国缺乏针对单基因癌症易感基因变异(gCSGV)的产前和植入前基因检测(PND 和 PGT-M)使用的国家指南,这导致了英国各地医疗服务的差异,以及癌症易感综合征家庭在生育选择上的不公平。2023 年,英国癌症遗传学小组和英国遗传医学会胎儿基因组学小组制定了联合共识指南,旨在为医疗保健专业人员提供明确的咨询框架,在个人/夫妇的生育决策过程中为他们提供支持。该指南面向医疗保健专业人员、患有 gCSGV 的个人和夫妇及其家人、政策制定者和支持癌症易感综合征患者的慈善机构。有关共识小组参与者、主要研讨会形式以及研讨会前后全国范围调查的详细信息,请参阅完整文件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
Prenatal and pre-implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: summary of the UK British Society for Genetic Medicine joint consensus guidance

The previous lack of national UK guidance on the use of Prenatal and Pre-implantation Genetic Testing (PND and PGT-M) for Monogenic Disorders for Germline Cancer Susceptibility Gene Variants (gCSGV) has led to disparities in care across the UK, and inequitable access to reproductive options for families living with cancer susceptibility syndromes. In 2023, the UK Cancer Genetics Group and Fetal Genomics Group of the British Society of Genetic Medicine developed joint consensus guidance seeking to provide healthcare professionals with a clear counselling framework to support individuals/couples during their reproductive decision-making process. The guidance is for healthcare professionals, individuals and couples with a gCSGV and their families, policy makers and charities supporting people with cancer susceptibility syndromes. Details about the consensus group participants, the main workshop's format, and the pre- and post-workshop nationwide surveys, are available in the full document.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
Obstetrics, Gynaecology and Reproductive Medicine
Obstetrics, Gynaecology and Reproductive Medicine Medicine-Obstetrics and Gynecology
CiteScore
0.90
自引率
0.00%
发文量
67
期刊介绍: Obstetrics, Gynaecology and Reproductive Medicine is an authoritative and comprehensive resource that provides all obstetricians, gynaecologists and specialists in reproductive medicine with up-to-date reviews on all aspects of obstetrics and gynaecology. Over a 3-year cycle of 36 issues, the emphasis of the journal is on the clear and concise presentation of information of direct clinical relevance to specialists in the field and candidates studying for MRCOG Part II. Each issue contains review articles on obstetric and gynaecological topics. The journal is invaluable for obstetricians, gynaecologists and reproductive medicine specialists, in their role as trainers of MRCOG candidates and in keeping up to date across the broad span of the subject area.
期刊最新文献
Editorial Board Editorial Board Genomics and hereditary cancer syndromes in women's health: a focus on gynaecological management Self-assessment questions Management of antepartum haemorrhage
×
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
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1