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

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.

Phase four included two demonstration projects.

Utah’s Newborn Screening Program built on its work in phase two by developing a proof-of-concept, web-based application using the SMART on FHIR standard and tailoring a genomic variant report to specialists to whom newborns are referred.

The second project occurred at the Center for Data-Driven Discovery in Biomedicine at Children’s Hospital of Philadelphia. As a member of the Children’s Brain Tumor Network and the Pacific Pediatric Neuro-Oncology Consortium, the Center has existing agreements for sharing clinical genomic testing data.

Researchers structured genomics data from a set of pediatric brain tumor patients as recommended by the FHIR Release 4 (R4) Genomics standard. Then, they loaded the data into a FHIR server to provide the ability to query and retrieve the information using an API.

The Center developed a prototype app that provided a user interface targeted to a specific use case and shared the technology with a team at the University of California, San Francisco, for clinical and research purposes.

“To see how the landscape has changed since Sync for Genes phase two, phase four included an analysis that further documented technical and non-technical challenges to widespread implementation, adoption, and use of genomics standards,” ONC official Stephanie Garcia wrote in a HealthITBuzz blog post.

The analysis included feedback from a technical expert panel and project team members, findings from demonstration sites, and a literature review.

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.