Moore Aideen M, Richer Julie
Canadian Paediatric Society, Bioethics Committee, Ottawa, Ontario, Canada.
Paediatr Child Health. 2022 Jul 18;27(4):243-253. doi: 10.1093/pch/pxac028. eCollection 2022 Jul.
Genetic testing has progressed rapidly over the past two decades and is becoming common in paediatrics. This statement provides an overview of recent developments that may impact genetic testing in children. Genetics is a rapidly evolving field, and this statement focuses specifically on expanded newborn screening, next generation sequencing (NGS), incidental findings, direct-to-consumer testing, histocompatibility testing, and genetic testing in a research context.
在过去二十年中，基因检测发展迅速，在儿科领域正变得越来越普遍。本声明概述了可能影响儿童基因检测的近期进展。遗传学是一个快速发展的领域，本声明特别关注扩大新生儿筛查、下一代测序（NGS）、偶发发现、直接面向消费者的检测、组织相容性检测以及研究背景下的基因检测。
