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一项关于向二级基因组结果披露的全球指南的范围审查,以为中国指南的制定提供参考。

A Scoping Review of Global Guidelines for the Disclosure of Secondary Genomic Findings to Inform the Establishment of Guidelines in China.

作者信息

Jiang Shan

机构信息

School of Population and Public Health, the University of British Columbia, Vancouver, BC, Canada.

出版信息

China CDC Wkly. 2022 Aug 12;4(32):697-705. doi: 10.46234/ccdcw2022.146.

Abstract

The detection and disclosure of secondary findings (SFs) is a preventive strategy for medically-actionable hereditary health conditions. Some countries have guidelines on management and disclosure of SFs, while others avoid detection and disclosure of SFs. This study is a review of clinical guidelines from six countries and the European Union to identify similarities and differences among SF guidelines. Evidence from this review supports harmonization of guidelines across countries to promote broad international collaborations on genomics and to benefit precision medicine. This study can serve as a reference for development of SF management guidelines in China by contributing evidence from other countries to the ethical and methodological challenges under debate.

摘要

次要发现(SFs)的检测与披露是针对具有医学可干预性的遗传性健康状况的一种预防策略。一些国家有关于SFs管理与披露的指南,而其他国家则避免对SFs进行检测与披露。本研究对六个国家和欧盟的临床指南进行了综述,以确定SFs指南之间的异同。该综述的证据支持各国指南的协调统一,以促进基因组学领域广泛的国际合作,并使精准医学受益。本研究可为中国SFs管理指南的制定提供参考,通过提供其他国家的证据来应对正在讨论的伦理和方法挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/05fa/9433757/e7c30afec944/ccdcw-4-32-697-1.jpg

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