Advancing Genomic Data-Sharing for Research and Patient Care: Sync for Genes Project Delivers Final Report and Toolkit
Stephanie Garcia | August 21, 2023
Genomic variations can affect a patient’s risk for cancer, response to medications, and numerous other vital health outcomes. In fact, nine of the ten leading causes of death in the U.S. are influenced by genomic factors. The need for systems that help clinicians integrate genomics into care decisions has grown in importance.
Recognizing this need, in 2017 ONC launched Sync for Genes, a project that sought to advance standards and tools to effectively integrate genomic information into clinical workflows. In May 2023, the project delivered its final report, including a robust toolkit that highlights resources to help advance genomic data-sharing for research and patient care.
Here are some of the key takeaways from Sync for Genes project.
A Systematic, Phased Approach to Address Interconnected Challenges
Across five phases, Sync for Genes identified and addressed critical, intersecting challenges that impede the ability to share genomic data.
The initial phase sought to enhance genomic data standards and incorporate them into the Fast Healthcare Interoperability Resources (FHIR®) standard. Subsequent phases built on this work by:
- Testing the standards with laboratories and providers
- Developing a proof-of-concept API to deliver genomic data to electronic health records (EHRs)
- Creating a prototype app and user interface for data exchange
- Demonstrating an ecosystem for sharing and interpreting genomic information at the point of care.
Recommendations for Implementing Genomic Data Standards
To further support implementation and adoption, the Sync for Genes Phase 5 final report [PDF – 401 KB] outlines four key recommendations:
- Enhance and harmonize genomic data standards – Often buried in unstructured or semi-structured text, a patient’s genetic results need to be recorded as discrete, sharable data.
- Develop a sandbox environment for testing – By giving the development community a place to discuss, test, and evaluate solutions, implementers can map genomics data and test code before pushing for implementation.
- Support implementation and adoption of genomics – This could include technical connect-a-thons for implementers, clinician workshops, and educational resources for patients.
- Enable clinical decision support (CDS) standards and capabilities –Thoughtful CDS demands a high degree of interoperability between genomic knowledge bases, EHRs, and other clinical systems. It also requires effective coordination with clinical oversight groups.
Sync for Genes Resources Toolkit
To help organizations tackle these recommendations, the Sync for Genes Resources Toolkit [PDF – 351 KB] aggregates the insights and outputs developed across all project phases. The toolkit caters to the wide range of stakeholders who play a crucial role in the genomic data-sharing ecosystem, including:
- Health IT and standards developers, exchanges, and registries
- Laboratories and testing companies
- Healthcare organizations
- Genomics and healthcare researchers
- Commercial and public payers
- Patient advocates
To facilitate continued collaboration across these organizations, ONC and other agencies – such as NIH, whose All of Us Research Program is building an unprecedented database of genomic information – can play a coordinating role. By following the Sync for Genes model of collaboration and leveraging the project’s robust resources, the clinical genomics community can help bring this information to the point of care.
To learn more about the Sync for Genes programs and access to published reports from all five phases, visit Sync for Genes | HealthIT.gov