The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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DOI：
10.1038/s41436-020-0841-2
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发表时间：
2020-06-01
影响因子：
8.8
通讯作者：
Seaver, Laurie H.
中科院分区：
文献类型：
--
作者：
Grebe, Theresa A.;Khushf, George;Seaver, Laurie H.
基因和基因组检测技术的进步不仅将临床基因组信息的利用引入了几乎所有的医疗领域，而且这种检测已经成为实现精准医疗目标的重要工具。随着基因组数据变得越来越复杂，电子健康记录（EHR）也必须发展，为患者提供最佳护理，最大限度地提高效益，同时最大限度地减少危害。患者自主权、获取、遗传知识、隐私和保护、数据的可转移性以及适当的基因组数据集等问题是促进将基因组信息纳入患者护理的关键。
BACKGROUNDAdvances in genetic and genomic testing technology have not only introduced the utilization of clinical genomic information into virtually every area of medical care, this testing has become an essential tool to achieve the goal of precision medicine. As genomic data become more complex, so too must the electronic health record (EHR) evolve to provide optimal care for patients, maximizing benefits while minimizing harm. Issues of patient autonomy, access, genetic literacy, privacy and protection, transferability of data, as well as the appropriate genomic data set are key in facilitating the incorporation of genomic information into patient care.