It is critical that genomic data, including data from next generation sequencing (NGS) laboratories, be shared in a consistent and usable way. Sync for Genes was established to expedite the use of standards to enable and improve patient’s ability to seamlessly share their genomics information.
HL7® FHIR® builds on modern web-based technologies to enable health care apps at the point of care. FHIR Genomics, the portion of FHIR related to clinical genomics, was designed to meet current clinical genomics use cases being utilized at health care organizations today, with special focus on clinical sequencing (1). FHIR Genomics enables integration of clinical genomic information for better patient care via point of care apps, patient facing apps, as well as clinical research/analysis (2,3).
Sync for Genes has been created to leverage HL7 FHIR infrastructure for communicating information from clinical genomic labs in a format for universal use across medicine. The original Sync for Science pilots drew data out of point-of-care (i.e., Electronic Health Record (EHR) systems); Sync for Genes is the first step toward integrating clinical genomics into the point-of-care. It also complements Sync for Science’s efforts in sharing clinical MU3 core datasets from EHR’s, by enabling sharing of clinical genomic information for research resources such as All of Us.
Sync for Genes has combined participation from Labs, Providers, Government, Vendors, Patients, and Coordinators in order to provide learning in actual settings. The information from this project will be used to facilitate standards and processes used to share clinical genomic information in order to help improve patient care.
For guidance site based on Sync for Genes, please click here
Alterovitz, Ullman-Cullere, et. al. “Domain Analysis Model: Clinical Sequencing,” HL7, 2017 (in press, email for details).