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Description

Precision health's more individualized molecular approach will enrich our understanding of disease etiology and patient outcomes. Universal implementation of precision health will not be feasible, however, until there is much greater automation of processes related to genomic data transmission, transformation, and interpretation. In this paper, we describe a framework for genomic data flow developed by the Clinical Informatics Work Group of the NIH National Human Genome Research Institute (NHGRI) IGNITE Network consortium. We subsequently report the results of a genomic data flow survey administered to sites funded by NIH-NHGRI for large scale genomic medicine implementations. Finally, we discuss insights and challenges identified through these survey results as they relate to both the current and a desirable future state of genomic data flow.

Learning Objective: After participating in this session, the learner should be better able to:
Understand and be able to discuss current issues in genomic data transmission, transformation, and interpretation from the point of a genomics instrument to the clinical point-of-care within the context of an electronic health record and clinical decision support.

Authors:

Paul Dexter (Presenter)
Indiana University School of Medicine

Henry Ong, Vanderbilt University Medical Center
Amanda Elsey, University of Florida
Gillian C. PharmD, Mission Health
Nephi Walton, Geisinger Health System
Wendy Chung, Columbia University
Luke Rasmussen, Northwestern University
Kevin Hicks, Moffitt Cancer Center
Aniwaa Owusu-obeng, Icahn School of Medicine at Mount Sinai
Stuart Scott, Icahn School of Medicine at Mount Sinai
Stephen Ellis, Icahn School of Medicine at Mount Sinai
Josh Peterson, Vanderbilt University Medical Center

Presentation Materials:

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