Sync for Genes

Sync for Genes, launched in 2017, aims to standardize the sharing of genomic information among laboratories, providers, patients, and researchers. The project advances the development and use of industry-supported standards for the sharing and integration of genomic information in a consistent and usable way, such as via the Health Level 7 International® (HL7®) Fast Healthcare Interoperability Resources® (FHIR®) standard.

ONC, in partnership with the National Institutes of Health (NIH), supports the sharing of genomic data because they are critical to the All of Us Research Program and precision medicine. This flagship effort under the Precision Medicine Initiative will drive the future of precision medicine research by a new wave of investigators. Sync for Genes also complements Sync for Science’s efforts in sharing clinical data from electronic health record systems.

Learn more about the Sync for Genes project phases 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

Final Report

To learn more about Sync for Genes Phase 1, read the Final Report released in November 2017.

Health IT Buzz Blog

These Genes are on FHIR! Advances in Standardizing Genomics through HL7® FHIR®” discusses results from Sync for Genes Phase 1 pilot projects.

Sync for Genes Phase 2: Integrating Genomic Data

Phase 2 expanded on the work done in Phase 1 to advance the standardized sharing of genomic data using the FHIR standard, including demonstrating the exchange of genomic test results. Four organizations participated in Phase 2 and conducted projects with different focus areas. Feedback from project activities 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:

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

Semantic Information Modeling

As a result of findings from Phase 2, ONC identified the need for additional guidance regarding how to apply FHIR to clinical genomics use cases. The lack of well-defined semantic concepts and a common genomic data model has resulted in numerous unique data models and home-grown standards. This result creates potential challenges to interoperability based on the need for significant human intervention and mapping.

ONC supported a small project to reinitiate development of the Clinical Genomics Information Model, a conceptual information model that is not based on a specific technology and promotes consistency among the standards used by the HL7 Clinical Genomics Work Group. The model can provide a semantic reference and help reduce the ambiguity that can complicate the effective exchange and use of clinical genomic data. At of the end of the project, this work was transferred to the HL7 Clinical Genomics Work Group, which oversees development of standards that support the clinical genomics domain.

Final Report and Article

To learn more about Sync for Genes Phase 2, read the Final Report and the article in Applied Clinical Informatics released in April 2020.

Health IT Buzz Blog

Clinical Genomics Data for Precision Medicine” discusses results from Sync for Genes Phase 2 pilot projects and the semantics information modeling effort.

HIMSS20 Webinar

In this June 2020 webinar ONC project leads and a genomics expert discuss Sync for Genes Phase 2 and the semantic information modeling project. Registration is free.

Sync for Genes Phase 3: Engaging Laboratories

Phase 3 demonstrated the ability to share standardized genomic data generated by laboratories. The project continued to expand adoption of the FHIR Clinical Genomics specification, presenting a valuable opportunity for testing the specification in genomic laboratory settings. Phase 3 identified gaps in the FHIR Clinical Genomics specification as applied in this new setting and generated insights that HL7 can use to continue to refine the FHIR standard.

Phase 3 demonstration projects focused on:

Final Report

To learn more about Sync for Genes Phase 3, read the Final Report [PDF – 637 KB], which summarizes approaches to exchanging genomic data generated by laboratories.

Health IT Buzz Blog

Shares results from Phase 3 of the Sync for Genes demonstration projects and their effort to advance standardized sharing of genomic data from laboratories.

Sync for Genes Phase 4: Sharing Genomic Data with Individuals

Sync for Genes Phase 4 will develop and test health IT infrastructure to enable interoperable sharing of genomic data and supporting information with individuals. The project will leverage work from prior Sync for Genes phases to advance the appropriate genomic information sharing and knowledge support using standardized FHIR APIs. The work will be conducted through demonstrations of electronic exchange of genomic data between organizations and at least one data receiver, including patients or caregivers, as appropriate. Phase 4 began in 2020 and includes the following demonstrations:

  • The Utah Newborn Screening (NBS) Program: Building off its work in Phase 2 of Sync for Genes, NBS plans to develop a proof-of-concept web-based application using the SMART on FHIR standard that would interact with a database containing the genomic variant data for the patient.
  • The Children’s Hospital of Philadelphia (CHOP): For this project, CHOP plans to exchange genomic diagnostic data more effectively between sites, specifically that of brain tumor patients. The Division of Genomic Diagnostics at CHOP (DGD) has identified approximately 400 participants who have given consent through the Children’s Brain Tumor Network.

Health IT Buzz Blog

The Utah Newborn Screening Program and The Children’s Hospital of Philadelphia have been selected to progress to Phase 4 of the Sync for Genes project. Read about these demonstration sites and their projects.

Content last reviewed on April 21, 2021
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