TY - JOUR
T1 - Sync for Genes
T2 - Making Clinical Genomics Available for Precision Medicine at the Point-of-Care
AU - Garcia, Stephanie J.
AU - Zayas-Cabán, Teresa
AU - Freimuth, Robert R.
N1 - Funding Information:
S.J.G. and T.Z.C. do not have any conflict of interest to report. R.R.F. was funded through U.S. Department of Health and Human Services Contract Number HHSP233201700054C with ESAC, Inc. to serve as technical director of this project via a consulting agreement. R.R.F. also serves as a co-chair of the HL7 Clinical Genomics Work Group, which authors and maintains the FHIR specification referenced in this article.
Publisher Copyright:
© 2020 Georg Thieme Verlag KG Stuttgart New York.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/3/1
Y1 - 2020/3/1
N2 - 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.
AB - 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.
KW - Fast Healthcare Interoperability Resources
KW - Health Level Seven International
KW - electronic health records and systems
KW - genetics
KW - implementation and deployment
KW - precision medicine
KW - standards adoption
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U2 - 10.1055/s-0040-1708051
DO - 10.1055/s-0040-1708051
M3 - Article
C2 - 32323283
AN - SCOPUS:85083949779
VL - 11
SP - 295
EP - 302
JO - Applied Clinical Informatics
JF - Applied Clinical Informatics
SN - 1869-0327
IS - 2
ER -