Sync for Genes

Sync for Genes, launched in 2017, aims to standardize the sharing of genomic information between laboratories, providers, patients, and researchers. The Sync for Genes program advances the development and use of and use of industry supported standards that support the sharing and integration of genomic information in a consistent and usable way, such as Health Level 7 International (HL7®) Fast Healthcare Interoperability Resources (FHIR®). ONC, in partnership with the National Institutes of Health (NIH), support the sharing of genomic data because it is critical to the All of Us Research Program that is part of the Precision Medicine Initiative (PMI) and the next impetus of genetic research by a new wave of researchers. Sync for Genes also complements Sync for Science’s efforts in sharing clinical data from electronic health records (EHRs). 

The project has been conducted in phases – each of which is summarized below. 

Sync for Genes Phase 1: Standardizing Genomic Data

Phase 1 of Sync for Genes focused on standardizing genomic data and involved five organizations.  These organizations included laboratories, providers, government, health IT developers, patients, and academia. They pilot tested use cases that were included in the HL7® Clinical Genomics Work Group’s Domain Analysis Model, which includes examples of genomic use cases implementers can reference as they implement FHIR® for genomics. Additionally, the insights from Phase 1 contributed to the successful publication of the Genomics Implementation Guidance as part of FHIR Release 3.0.

Phase 1 pilot focus areas included:

  • Counsyl and Intermountain Healthcare: Family Health History Genetics
  • Food & Drug Administration: Sequencing Quality and Regulatory Genomics
  • Foundation Medicine and Vanderbilt: Somatic/Tumor Next Generation Sequencing
  • Illumina: Next Generation Sequencing Solutions
  • National Marrow Donor Program: Patient and Donor Matching

The Phase 1 final report was released in November 2017. Read more about this project on our blog.

Sync for Genes Phase 2: Integrating Genomic Data

Phase 2 expanded on the work done in Phase 1, by demonstrating connectivity and exchange of genomic data with a focus on integration of this information into the clinic setting. Four organizations participated in Phase 2 and demonstrated proof-of-concepts that integrate genomic information at the point of care in different fields through pilot testing. Feedback from the pilot tests was provided to the HL7® Clinical Genomics Work Group to support the further refinement of the FHIR® Clinical Genomics specification.

Phase 2 pilot focus areas included:

  • Utah Department of Health: Newborn Screening
  • Weill Cornell Medicine: Cancer Genomic Decision Support
  • National Marrow Donor Program: Patient and Donor Matching
  • Lehigh Valley Health Network: Pharmacogenomics

Sync for Genes: Semantic Information Modeling

As a result of a gap analysis conducted in Phase 2 ONC identified the need for additional guidance regarding how to apply FHIR to clinical genomics use cases.  The Clinical Genomics Information Model is a consensus-based information model that will provide a common semantic backbone for clinical genomics data and serve as the foundation for HL7 genomics standards. The model will provide a semantic reference for message formats in use by the research community, helping to reduce the ambiguity and disparity that currently prevents the effective exchange and use of clinical genomic data. This work is expected to conclude this summer 2019.

Content last reviewed on July 24, 2019
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