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Description

Genomic data sharing is critical to the Precision Medicine Initiative (PMI) and the next impetus of genetic research. Launched in 2016, Sync for Genes aims to standardize the sharing of genomic information between laboratories, providers, patients, and researchers. Two phases of this project have culminated, both resulting in the advancement of the Health Level 7 International (HL7®) Fast Healthcare Interoperability Resources (FHIR®) Clinical Genomic profile. During the course of this project, several important gaps were identified in the emerging standard that must be filled to set a firm foundation for the use of genomic data in the provision of tailored medicine and research. This panel will share results and findings from the Sync for Genes project, review the semantic data model work conducted to date, and discuss with the audience priorities for future work. The discussion will explore roadblocks that may be hindering widespread adoption of FHIR for genomics and weigh alternatives that may be in use to support the exchange of genomic data for use at the point of care and for research.

Learning Objective: Participants will have a better understanding of the goals of the Sync for Genes project and findings to date.
Participants will learn about the testing conducted by Sync for Genes pilot sites and the implications for standardized sharing of genomic information.
Participants will learn about key gaps that exist in the current specification and how they are being addressed.

Authors:

Stephanie Garcia (Presenter)
Department of Health and Human Services

Robert Freimuth (Presenter)
Mayo Clinic

Robert Milius (Presenter)
National Marrow Donor Program

Nicole Ruiz-Schultz (Presenter)
Utah Department of Health

Presentation Materials:

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