4.0 Article

A One-Page Summary Report of Genome Sequencing for the Healthy Adult

Journal

PUBLIC HEALTH GENOMICS
Volume 18, Issue 2, Pages 123-129

Publisher

KARGER
DOI: 10.1159/000370102

Keywords

Whole-genome sequencing; Genomic screening; Laboratory reporting; Molecular testing

Funding

  1. National Human Genome Research Institute of NIH [U01-HG006500, U41-HG006834, R01-HG005092]
  2. National Institute of Child Health and Human Development of NIH [U19-HD077671]

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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. (C) 2015 S. Karger AG, Basel

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