Abstract
Background Making genomic data available at the point-of-care and for research is critical for
the success of the Precision Medicine Initiative (PMI), a research initiative which
seeks to change health care by “tak(ing) into account individual differences in people's
genes, environments, and lifestyles.” The Office of the National Coordinator for Health
Information Technology (ONC) led Sync for Genes, a program to develop standards that
make genomic data available when and where it matters most. This article discusses
lessons learned from recent Sync for Genes activities.
Objectives The goals of Sync for Genes were to (1) demonstrate exchange of genomic data using
health data standards, (2) provide feedback for refinement of health data standards,
and (3) synthesize project experiences to support the integration of genomic data
at the point-of-care and for research.
Methods Four organizations participated in a program to test the Health Level Seven International
(HL7®) Fast Healthcare Interoperability Resources (FHIR®) standard, which supports sharing genomic data. ONC provided access to subject matter
experts, resources, tools, and technical guidance to support testing activities. Three
of the four organizations participated in HL7 FHIR Connectathons to test FHIR's ability
to exchange genomic diagnostic reports.
Results The organizations successfully demonstrated exchange of genomic diagnostic reports
using FHIR. The feedback and artifacts that resulted from these activities were shared
with HL7 and made publicly available. Four areas were identified as important considerations
for similar projects: (1) FHIR proficiency, (2) developer support, (3) project scope,
and (4) bridging health information technology and genomic expertise.
Conclusion Precision medicine is a rapidly evolving field, and there is opportunity to continue
maturing health data standards for the exchange of necessary genomic data, increasing
the likelihood that the standard supports the needs of users.
Keywords
genetics - implementation and deployment - precision medicine - electronic health
records and systems - Fast Healthcare Interoperability Resources - Health Level Seven
International - standards adoption
