{"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, 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, 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}
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.
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.
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