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

Q3 Medicine Obstetrics, Gynaecology and Reproductive Medicine Pub Date : 2024-07-01 DOI:10.1016/j.ogrm.2024.04.004

Mohamed Wafik, Anjana Kulkarni

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Abstract

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.

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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

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。

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来源期刊

Obstetrics, Gynaecology and Reproductive Medicine Medicine-Obstetrics and Gynecology

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0.90

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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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