How FHIR APIs Can Support Genomic Data Sharing for Research, Patient Care

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Posted on June 22, 2022 by Hannah Nelson

As part of ONC’s Sync for Genes program, two healthcare organizations demonstrated how HL7 FHIR APIs can facilitate genomic data sharing.

Phase four of ONC’s Sync for Genes program revealed that Health Level Seven International (HL7) Fast Healthcare Interoperability Resources (FHIR) application programming interfaces (APIs) can support genomic data sharing for clinical and research use cases.

The Sync for Genes program, launched by ONC in 2017 in partnership with the National Institutes of Health’s All of Us Research Program, aims to support genomic data sharing across the care continuum.

Phase one of the project focused on testing use cases included in HL7’s Clinical Genomics Workgroup’s Domain Analysis Model. These results contributed to the Genomics Reporting Implementation Guide as part of the FHIR Release 3.0.

Phase two demonstrated how stakeholders could share and leverage genomic data for newborn screening, cancer treatment, pharmacogenomics, and bone marrow matching.

In phase three, stakeholders identified and addressed gaps in the FHIR Clinical Genomics specification to support genomic data interoperability across laboratory and healthcare settings.

The goal of Sync for Genes Phase four was to advance the use of standardized HL7 FHIR-based APIs to improve how genomic data sharing in clinical and research settings.

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Stakeholders categorized challenges into six themes that point to the continued need for:

  • Standards development and content for the integration of genomic data into clinical and research systems
  • Support during implementation of genomic standards
  • Flexible infrastructure to support the complexity of genomic data
  • Supporting the utilization of genomic data according to the different needs of end-users
  • Supporting the educational needs of patients and providers
  • Better alignment of policy with rapidly evolving genomics-related technology, expanding genomics knowledge base, and evolution of clinical practices

“The Sync for Genes project, in collaboration with the demonstration sites to date, has primarily focused on the testing and development of interoperable genomics standards and their implementation,” Garcia said. “This focus on standards development and implementation is foundational to realizing the vision of genomic data flowing seamlessly to patients, providers, researchers, and other professionals.”

“However, there is much more work to do in order to support interoperable implementation and to address the longer-term needs such as access to reliable educational materials tailored for specific users and to policies that align with the rapidly evolving field of genomics,” she concluded.