Sync for Genes Shifts to Phase 4: Reporting to Individuals
The Sync for Genes project, studying approaches to exchanging and integrating genomic data into healthcare systems, has published a report on its Phase 3 involving sharing genomic data generated by testing labs. The upcoming Phase 4 will focus on sharing genomic data with individuals. Selected sites will help the Office of the National Coordinator for Health Information Technology (ONC) test and improve the electronic exchange of genomic data between organizations and at least one data receiver, such as a patient or caregiver.
Under the direction of the ONC, in collaboration with the National Institutes for Health (NIH), Sync for Genes’ was launched in 2016 to advance the standardized sharing of genomic information between laboratories, providers, patients, and researchers.
Work done in the first phases highlighted the importance of incorporating testing laboratories in the development of standards. They are the primary producers of FHIR-formatted data and an essential participant in the exchange of clinical genomic results.
So, in Phase 3, labs’ challenges and solutions were identified through the implementation of the HL7 FHIR Genomics Reporting Implementation Guide. Participants took a collaborative approach to clinical genomics standards development by aligning with leading industry efforts to identify high-impact enhancements to the implementation guide that will support current and future genomic testing requirements and facilitate broad adoption.
The two selected demonstration projects represented both labs that generate clinical genomic data and users who order tests and receive results:
• The Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) is a genomic testing lab that returns DNA sequencing and genotyping results to sites participating in the National Institutes of Health National Human Genome Research Institute (NHGRI)-sponsored Electronic Medical Records and Genomics (eMERGE) Network.
• The National Marrow Donor Program Center for International Blood and Marrow Transplant Research partnered with Versiti, a histocompatibility testing lab. Together they developed a tool to convert human leukocyte antigens report data, which include DNA sequences, into FHIR format.
Both demonstration projects developed customized implementation guides based on the HL7 FHIR Genomics Reporting Implementation Guide, tailored to suit the two projects’ highly specialized use cases. The challenges and solutions identified over the course of the demonstrations were shared with the HL7 Clinical Genomics Work Group, which is using the solutions to improve the resources for future use.
While the majority of the recommendations are highly technical, they help shape broader efforts related to the capture of standardized genomic information that can be used within electronic health records. ONC said the increased ability of genomics testing laboratories to share data with providers in a standard way and the demonstration of those standards’ flexibility to accommodate new genomics testing is a significant step forward.
