单基因病扩展性携带者筛查研究进展

Reseach advances in screening of monogenic diseases in expanded carrier

携带者筛查是识别生育单基因病患儿风险夫妇和指导再生育的有效手段之一。基因检测技术最初作为单一疾病和基于先证者的筛查,其发展使多种疾病同时检测成为可能,形成扩展性携带者筛查。虽然目前越来越多的实验室开展扩展性携带者筛查,但仍面临缺乏公众需求、卫生系统优先次序较低、接受筛查的潜在压力、检测前后咨询、技术局限性等方面挑战。本文总结了国内外单基因病扩展性携带者筛查的发展历史和研究进展。

Carrier screening is one of the effective means to identify the couples at risk of having monogenic disease and to guide reproduction.Gene detection technology as a screening method for single disease initially,its development makes it possible to detect different diseases at the same time,thus forming the"expanded carrier screening".Although more and more laboratories are carrying out expanded carrier screening,they still face challenges such as lack of public demand,low priority of health system,potential pressure of screening,consultation before and after testing,and technical limitations.Here,we summarize the development and research advances in expanded carrier screening at home and abroad.