A one-page summary report of genome sequencing for the healthy adult

Jason L Vassy, Heather M McLaughlin, Calum A MacRae, Christine E Seidman, Denise Lautenbach, Joel B Krier, William J Lane, Isaac S Kohane, Michael F Murray, Amy L McGuire, Heidi L Rehm, Robert C Green, Jason L Vassy, Heather M McLaughlin, Calum A MacRae, Christine E Seidman, Denise Lautenbach, Joel B Krier, William J Lane, Isaac S Kohane, Michael F Murray, Amy L McGuire, Heidi L Rehm, Robert C Green

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.

Conflict of interest statement

Declaration of interests: JLV, HLM, CAM, CES, DL, JBK, HLR, and RCG are employed by Partners Healthcare, which is the sole owner of GeneInsight, LLC. The authors declare that they have no other conflicts of interest.

© 2015 S. Karger AG, Basel.

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Figure
Summary page of the Genome Report for genomic sequencing results for a generally healthy individual

Source: PubMed

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