The Office of the National Coordinator for Health IT has launched Phase 2 of the Sync for Genes initiative, aimed at demonstrating how standardized genomic data can be shared between laboratories, providers, patients, as well as researchers.

Four pilot sites—Lehigh Valley Health Network, National Marrow Donor Program, Utah Newborn Screening Program, and Weill Cornell Medicine—are participating in Phase 2 and will continue to leverage HL7’s Fast Healthcare Interoperability Resources (FHIR) to accelerate standardization of sharing patients’ genomic data among health IT systems so it can be integrated easily with other clinical information.

In Phase 2, the four pilot sites will expand Phase 1 work on FHIR genomics profiles—the portion of the standard related to clinical genomics—with specific use cases. In addition, the pilot sites will focus on the integration of genomics information into a clinical setting for supporting care and research efforts.

According to ONC’s Chief Scientist Teresa Zayas Caban, the pilot sites will expand their profile work to more fully support the integration of genomics-clinical information and add use cases from the Domain Analysis Model, which serves as a guidebook on precision medicine use cases focusing on clinical sequencing, elucidating genomic use case scenarios, stakeholders, data flow diagrams, as well as challenges and lessons learned—to effectively incorporate genomic data into point-of-care workflows with FHIR.

“We’re really hoping to demonstrate how standardized genomic data can be transferred from the laboratory or health information system to provider implementation of an EHR and/or a patient portal using HL7’s FHIR,” says Zayas Caban, who adds that the ultimate goal of the Sync for Genes project is to help bring clinical genomics to the point of care by enabling the interoperable exchange of genomic data.

Teresa Zayas Caban
Teresa Zayas Caban

Also See: Sync for Genes seeks to bring genomics to the point of care

Last year, ONC launched Sync for Genes in partnership with the National Institutes of Health to support NIH’s Precision Medicine Initiative national cohort of one million or more Americans—the All of Us research program—who will contribute their physical, genomic, and EHR data to the landmark study.

Zayas Caban contends that the challenge of sharing genomic data is the sheer volume and inherent complexity of information. “The challenge to date has also been sharing it in standardized, electronic form—as opposed to a PDF of a lab result.”

Phase 2 of Sync for Genes will run about a year, she notes. Zayas Caban adds that getting genomic data integrated into EHR systems will make it “easier for clinicians to be able to use those data on a more regular basis—as appropriate as part of diagnosis and treatment” and will “also make it easier for them to have conversations with their patients about any genomic results as well as potentially sharing those results with patients via something like a patient portal.”

ONC also announced that Robert Freimuth, assistant professor of biomedical informatics at the Mayo Clinic and co-chair of HL7 Clinical Genomics, will serve as technical director for the project.

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