Appl Clin Inform 2020; 11(02): 295-302
DOI: 10.1055/s-0040-1708051
AMIA CIC 2019
Georg Thieme Verlag KG Stuttgart · New York

Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care

Stephanie J. Garcia
1  Office of the National Coordinator for Health Information Technology, Washington, District of Columbia, United States
,
Teresa Zayas-Cabán
1  Office of the National Coordinator for Health Information Technology, Washington, District of Columbia, United States
,
Robert R. Freimuth
2  Division of Digital Health Sciences, Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States
› Author Affiliations
Funding None.
Further Information

Publication History

27 August 2019

04 February 2020

Publication Date:
22 April 2020 (online)

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.

Protection of Human and Animal Subjects

There were no human and/or animal subjects included in this project.