Five pilot sites that are part of the ONC-funded Sync for Genes program—designed to help bring clinical genomics to the point of care—are making progress in enabling the interoperable exchange of genomic data, according to the agency’s Chief Scientist Teresa Zayas Caban.
“It’s critical to be able to share genomic data in a consistent and usable way, and Sync for Genes is a major step towards doing that,” she says. “We’ve made enough progress that we feel comfortable moving into Phase 2, where we’ll actually be engaging EHR developers and healthcare provider organizations.”
Sync for Genes is leveraging 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. Specifically, the five S4Genes pilot sites have been using FHIR Genomics—the portion of the standard related to clinical genomics—for specific use cases in precision medicine.
Earlier this year, ONC launched S4Genes 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.
“The adoption of HL7 FHIR resources by the Sync for Genes project represents a milestone in a path toward enabling genomic data for precision medicine,” says Chuck Jaffe, MD, HL7’s CEO. “It has required HL7 collaboration with partnerships, both internal and external to HL7. The HL7 Clinical Genomics work group and the FHIR development teams have provided critical standardization to support the integration of next-generation sequencing into the clinical care paradigm.”
In addition, Jaffe observes that the HL7 partnerships with both ONC and NIH have provided a framework to deliver enhanced patient care at far lower cost. “We envision the critical steps of Phase 2 in leveraging the HL7 Domain Analysis Model as it enhances the integration of clinical and genomic data,” he adds.
HL7 in February published the Domain Analysis Model to establish and disseminate clinical genomics use cases. According to Gil Alterovitz, who leads the S4Genes effort and is co-chair of the HL7 Clinical Genomics Work Group, the Domain Analysis Model serves as a guidebook on precision medicine use cases with a special focus 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 by implementing FHIR.
“With regard to FHIR Genomics and application in precision medicine, we are seeing more stakeholders than ever in HL7 Clinical Genomics involved in associated activities, from development and harmonization to piloting and deployment of use cases using the emerging standard,” notes Alterovitz, who is also professor at Harvard Medical School’s Computational Health Informatics Program. “The community is now expanding the use cases for the standard via augmenting the HL7 Domain Analysis Modeling for clinical genomics, increasing its scope and usefulness for precision medicine applications.”
The organizations participating in the five S4Genes pilots include: Counsyl with Intermountain Healthcare, the Food and Drug Administration, Foundation Medicine with Vanderbilt University Medical Center, Illumina and the National Marrow Donor Program. They are focused on specific genomic use cases such as family health history genetics, sequencing quality and regulatory genomics, somatic and tumor testing, next generation sequencing solutions, and tissue matching.
For its part, Counsyl—a health technology company that offers DNA screening—and Intermountain Healthcare have been focused on making family health history along with associated genetics data available to patients, clinicians and researchers.
“In many cases, submitting a patient family health history along with a genetic test order gives the lab, the ordering clinician, and the genetic counselor, a deeper analysis and a more informed interpretation of the test results,” observes Grant Wood, senior IT strategist in Care Transformation Services-Genetics at Intermountain Healthcare. “This benefit extends beyond just the patient, but to the patent’s biological family, which also may be affected by an inherited genetic mutation.”
For Phase 2 of S4Genes, ONC’s Zayas Caban says the pilot sites will expand on their profile work to more fully support the integration of genomics information and clinical information, as well as work on additional core use cases from the Domain Analysis Model.
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