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Am J Med Genet A. 2016 May;170A(5):1134-41. doi: 10.1002/ajmg.a.37573. Epub 2016 Feb 3.

Enhancing genomic laboratory reports: A qualitative analysis of provider review.

Author information

Geisinger Genomic Medicine, Danville, Pennsylvania.
Penn State Hershey College of Medicine, Hershey, Pennsylvania.
Center for Health Research, Danville, Pennsylvania.
SimulConsult, Inc., Chestnut Hill, Massachusetts.
Virginia Tech, Blacksburg, Virginia.
Chase Group, Ltd., Traverse City, Michigan.


This study reports on the responses of physicians who reviewed provider and patient versions of a genomic laboratory report designed to communicate results of whole genome sequencing. Semi-structured interviews addressed concept communication, elements, and format of example genome reports. Analysis of the coded transcripts resulted in recognition of three constructs around communication of genome sequencing results: (1) Providers agreed that whole genomic sequencing results are complex and they welcomed a report that provided supportive interpretation information to accompany sequencing results; (2) Providers strongly endorsed a report that included active clinical guidance, such as reference to practice guidelines, if available; and (3) Providers valued the genomic report as a resource that would serve as the basis to facilitate communication of genome sequencing results with their patients and families. Providers valued both versions of the report, though they affirmed the need for a provider-oriented report. Critical elements of the report included clear language to explain the result, as well as consolidated yet comprehensive prognostic information with clear guidance over time for the clinical care of the patient. Most importantly, it appears a report with this design has the potential not only to return results but also serves as a communication tool to help providers and patients discuss and coordinate care over time.


genomics; laboratory reports; patient communication; provider communication

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