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临床遗传和基因组检测背景下提供、发表和传播患者表型的专业责任:需要考虑的问题——美国医学遗传学与基因组学学会(ACMG)的声明。

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

机构信息

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center, New York, New York, USA.

Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, Washington, USA.

出版信息

Genet Med. 2018 Feb;20(2):169-171. doi: 10.1038/gim.2017.242. Epub 2018 Jan 11.

Abstract

Disclaimer: This Points to Consider document is designed as an educational resource to provide best practices for medical genetic clinicians, laboratories, and journals regarding the provision, publication, and dissemination of patient phenotypes in the context of genomic testing, clinical genetic practice, and research. While the goal of the document is the improvement of patient care, the considerations and practices described should not be considered inclusive of all proper considerations and practices or exclusive of others that are reasonably directed to obtaining the same goal. In determining the value of any practice, clinicians, laboratories, and journals should apply their own professional standards and judgment to the specific circumstances presented.The content of this article is solely the responsibility of the authors and does not necessarily represent the official views of the authors' affiliated institutions.

摘要

免责声明

本《注意事项》文件旨在为医学遗传临床医生、实验室和期刊提供一个教育资源,针对基因组检测、临床遗传实践和研究背景下患者表型的提供、发表和传播,提供最佳实践建议。虽然本文档的目标是改善患者护理,但所描述的注意事项和实践不应被视为包括所有适当的注意事项和实践,也不应排除其他合理旨在实现同一目标的注意事项和实践。在确定任何实践的价值时,临床医生、实验室和期刊应将自己的专业标准和判断应用于所呈现的具体情况。本文的内容仅由作者负责,并不一定代表作者所属机构的官方观点。

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