Background and Project Goals
The Office of the National Coordinator for Health Information Technology (ONC) is seeking health IT companies, genomic medicine organizations and laboratories, researchers, and clinical institutions such as academic medical centers to participate as demonstration sites in the Sync for Genes Phase 5 Standardizing genomic variant sharing and interpretation project.
Sync for Genes Phase 5 focuses 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 will leverage resources developed by prior phases of the Sync for Genes program, such as the FHIR genomics specifications, semantic modeling, and standardized APIs as needed. Potential demonstrations could include but not limited to:
- Aligning, integrating, and harmonizing Global Alliance for Genomics and Health (GA4GH) Variant Annotations (VA) and Variation Representation Specification (VRS) standards with Health Level 7 (HL7) Fast Healthcare Interoperability Resources (FHIR)
- Improving the representation and structure of interpretation of genomic variants (e.g., Electronic Medical Records and Genomics (eMERGE), vcf2fhir, Variant Interpretation for Cancer Consortium (VICC) ClinGen adoption of VRS/VA expose to a clinical lab using FHIR).
The goal of the selected demonstration sites is to improve the standardization and the electronic exchange of genomic data in the form of annotated variants.
Participation Requirements
Selected participants will be required to attend regular project meetings, including a kick-off and closeout, and submit reports as part of the project life cycle. Demonstration sites will work with the Sync for Genes Phase 5 project team in developing their project plans (including sprint cycles), executing their approved demonstration project against agreed-upon sprint cycles, and documenting and presenting project findings including success, challenges, lessons learned, and next steps. If necessary, demonstration sites will work with the project team to map and harmonize use case elements to relevant standards and share those mappings. Demonstration sites may be asked to contribute to conference submissions, including abstracts, panel, and paper submissions, as appropriate. Demonstrations must be completed no later than September 2022.
Demonstration sites may include additional partnerships; these partnerships could include organizations such as laboratories, providers, registries, public repositories, and knowledge bases. Any demonstration site seeking to utilize partnerships in the completion of the demonstration must indicate the organizations involved in the partnership when completing the site profile. Development and demonstration may be conducted in sandboxes or test environments if necessary. The selected organizations must indicate future development plans prior to the end of the period of performance.
Technical Capabilities
If your organization would like to be considered as a demonstration site, please complete this Demonstration Site Profile by describing your proposed demonstration and discussing relevant technical capabilities noted below. Your responses will assist ONC and the Sync for Genes Phase 5 project team in determining your organization's technical capabilities and readiness in meeting the goals of Sync for Genes Phase 5.
Submission Instructions and Deadline
Please submit your completed Demonstration Site Profile by Friday, February 11, 2022. For any questions, reach out to Becky Angeles at: becky.angeles@carradora.com
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