Sync for Genes

Sync for Genes Phase 1: Standardizing Genomic Data

Phase 1 of Sync for Genes focused on standardizing genomic data and involved five organizations.  These organizations included laboratories, providers, government, health IT developers, patients, and academia. They pilot tested use cases that were included in the HL7® Clinical Genomics Work Group’s Domain Analysis Model, which includes examples of genomic use cases implementers can reference as they implement FHIR® for genomics. Additionally, the insights from Phase 1 contributed to the successful publication of the Genomics Implementation Guidance as part of FHIR Release 3.0.

Phase 1 pilot focus areas included:

• Counsyl and Intermountain Healthcare: Family Health History Genetics
• Food & Drug Administration: Sequencing Quality and Regulatory Genomics
• Foundation Medicine and Vanderbilt: Somatic/Tumor Next Generation Sequencing
• Illumina: Next Generation Sequencing Solutions
• National Marrow Donor Program: Patient and Donor Matching

Sync for Genes Phase 2: Integrating Genomic Data

Phase 2 expanded on the work done in Phase 1 to advance the standardized sharing of genomic data using the FHIR standard, including demonstrating the exchange of genomic test results. Four organizations participated in Phase 2 and conducted projects with different focus areas. Feedback from project activities was provided to the HL7 Clinical Genomics Work Group to support the further refinement of the FHIR Clinical Genomics specification.

Phase 2 pilot focus areas included:

• Lehigh Valley Health Network: Pharmacogenomics
• National Marrow Donor Program: Patient and Donor Matching
• Utah Department of Health: Newborn Screening
• Weill Cornell Medicine: Cancer Genomic Decision Support

Semantic Information Modeling

As a result of findings from Phase 2, ONC identified the need for additional guidance regarding how to apply FHIR to clinical genomics use cases. The lack of well-defined semantic concepts and a common genomic data model has resulted in numerous unique data models and home-grown standards. This result creates potential challenges to interoperability based on the need for significant human intervention and mapping.

ONC supported a small project to reinitiate development of the Clinical Genomics Information Model, a conceptual information model that is not based on a specific technology and promotes consistency among the standards used by the HL7 Clinical Genomics Work Group. The model can provide a semantic reference and help reduce the ambiguity that can complicate the effective exchange and use of clinical genomic data. At of the end of the project, this work was transferred to the HL7 Clinical Genomics Work Group, which oversees development of standards that support the clinical genomics domain.

Sync for Genes Phase 3: Engaging Laboratories

Phase 3 demonstrated the ability to share standardized genomic data generated by laboratories. The project continued to expand adoption of the FHIR Clinical Genomics specification, presenting a valuable opportunity for testing the specification in genomic laboratory settings. Phase 3 identified gaps in the FHIR Clinical Genomics specification as applied in this new setting and generated insights that HL7 can use to continue to refine the FHIR standard.

Phase 3 demonstration projects focused on:

• Baylor College of Medicine Human Genome Sequencing Center: eMERGE FHIR Specification
• The National Marrow Donor Program: Human Leukocyte Antigen (HLA) Reporting IG and converted HLA report data to FHIR

Sync for Genes Phase 4: Sharing Genomic Data for Patient Care

Sync for Genes Phase 4 developed and tested health IT infrastructure to enable interoperable sharing of genomic data and supporting information with individuals. The project leveraged work from prior Sync for Genes phases to advance the appropriate genomic information sharing and knowledge support using standardized FHIR® APIs. The work will be conducted through demonstrations of electronic exchange of genomic data between organizations and at least one data receiver, including patients or caregivers, as appropriate. Phase 4 began in 2020 and includes the following demonstrations:

• The Utah Newborn Screening (NBS) Program: Building off its work in Phase 2 of Sync for Genes, NBS plans to develop a proof-of-concept web-based application using the SMART on FHIR standard that would interact with a database containing the genomic variant data for the patient.
• The Children’s Hospital of Philadelphia (CHOP): For this project, CHOP plans to exchange genomic diagnostic data more effectively between sites, specifically that of brain tumor patients. The Division of Genomic Diagnostics at CHOP (DGD) has identified approximately 400 participants who have given consent through the Children’s Brain Tumor Network.

Sync for Genes Phase 5: Standardizing Genomic Variant Sharing and Interpretation for Clinical Knowledge

Sync for Genes Phase 5 is focusing on improving and sharing annotated genomics variants between providers, researchers, genomic laboratories, clinical institutions, and knowledge bases with the goal of improving the interpretation of genomic variants at the point-of-care. Sync for Genes Phase 5 leverages resources developed by prior phases of the Sync for Genes program, such as the FHIR® Genomics Reporting specification, semantic information models, and standardized APIs. Phase 5 began in 2021 and includes the following demonstration:

• The Children's Hospital of Los Angeles (CHLA): CHLA was selected to participate in Phase 5 to demonstrate interoperable sharing and interpretation of annotated genomic variants at the point-of-care. In partnership with Elimu Informatics, the project will use Global Alliance for Genomic Health (GA4GH) and FHIR® standards to facilitate more complete data exchange which better supports translational research and clinical genomics. Sharing of annotated genomic variants between clinicians and knowledge bases also enables computerized clinical decision support (CDS) that can help clinicians understand how to utilize genomic data and research in a clinical setting.