Suppr超能文献

美国医学遗传学与基因组学学会政策声明:关于临床全基因组测序中次要发现的分析和报告的更新建议

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

出版信息

Genet Med. 2015 Jan;17(1):68-9. doi: 10.1038/gim.2014.151. Epub 2014 Nov 13.

Abstract

These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetics services. Adherence to these recommendations does not necessarily ensure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these recommendations.

摘要

这些建议主要是作为医学遗传学家和其他医疗保健提供者的教育资源,以帮助他们提供高质量的医学遗传学服务。遵循这些建议并不一定能确保医疗结果成功。这些建议不应被视为涵盖所有适当的程序和测试,也不应排除合理用于获得相同结果的其他程序和测试。在确定任何特定程序或测试的适当性时,遗传学家和其他临床医生应根据个体患者或标本呈现的具体临床情况运用自己的专业判断。然而,对于任何与这些建议有重大偏差的情况,在患者记录中记录其理由可能是谨慎的做法。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验