一份针对健康成年人的基因组测序单页总结报告。
A one-page summary report of genome sequencing for the healthy adult.
作者信息
Vassy Jason L, McLaughlin Heather M, MacRae Calum A, Seidman Christine E, Lautenbach Denise, Krier Joel B, Lane William J, Kohane Isaac S, Murray Michael F, McGuire Amy L, Rehm Heidi L, Green Robert C
机构信息
Division of General Internal Medicine and Primary Care, Boston, Mass., USA.
出版信息
Public Health Genomics. 2015;18(2):123-9. doi: 10.1159/000370102. Epub 2015 Jan 21.
Abstract
As genome sequencing technologies increasingly enter medical practice, genetics laboratories must communicate sequencing results effectively to nongeneticist physicians. We describe the design and delivery of a clinical genome sequencing report, including a one-page summary suitable for interpretation by primary care physicians. To illustrate our preliminary experience with this report, we summarize the genomic findings from 10 healthy participants in a study of genome sequencing in primary care.
摘要
随着基因组测序技术越来越多地应用于医学实践，遗传学实验室必须有效地将测序结果传达给非遗传学家医生。我们描述了一份临床基因组测序报告的设计与交付，包括一份适合初级保健医生解读的单页摘要。为了说明我们在这份报告方面的初步经验，我们总结了一项初级保健基因组测序研究中10名健康参与者的基因组发现。
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