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Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-CareFunding None.
27 August 2019
04 February 2020
22 April 2020 (online)
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.
Keywordsgenetics - implementation and deployment - precision medicine - electronic health records and systems - Fast Healthcare Interoperability Resources - Health Level Seven International - standards adoption
Protection of Human and Animal Subjects
There were no human and/or animal subjects included in this project.
- 1 Fact Sheet: President Obama's Precision Medicine Initiative. The White House President Barack Obama. Available at: https://obamawhitehouse.archives.gov/the-press-office/2015/01/30/fact-sheet-president-obama-s-precision-medicine-initiative . Published January 30, 2015. Accessed October 15, 2019
- 2 About. National Institutes of Health All of Us Research Program. Available at: https://allofus.nih.gov/about . Accessed August 21, 2019
- 3 Denny JC, Rutter JL, Goldstein DB. , et al; All of Us Research Program Investigators. The “All of Us” Research Program. N Engl J Med 2019; 381 (07) 668-676
- 4 NCI and the Precision Medicine Initiative®. NIH National Cancer Institute. Available at: https://www.cancer.gov/research/areas/treatment/pmi-oncology . Updated July 24, 2017. Accessed on October 15, 2019
- 5 precisionFDA. U.S. Food and Drug Administration. Available at: https://precision.fda.gov/ . Accessed October 15, 2019
- 6 Precision Medicine. HealthIT.gov. Available at: https://healthit.gov/topic/precision-medicine . Published July 3, 2019. Accessed October 15, 2019
- 7 HHS Awards $21 Million to Support Health Center Participation in NIH's All of Us Research Program. HHS.gov. Available at: https://www.hhs.gov/about/news/2018/09/11/hhs-awards-21-million-support-health-center-participation-nih-research-program.html . Published September 11, 2018 Accessed October 15, 2019
- 8 21st Century Cures Act. Washington, DC. December 13, 2016. 114th Congress. 42 USC 201 Note. Available at: https://www.congress.gov/114/plaws/publ255/PLAW-114publ255.pdf . Accessed August 21, 2019
- 9 What is Precision Medicine? U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/primer/precisionmedicine/definition . Published April 2015. Updated January 7, 2020. Accessed January 17, 2020
- 10 Precision Medicine in Cancer Treatment. NIH National Cancer Institute. Available at: https://www.cancer.gov/about-cancer/treatment/types/precision-medicine . Updated October 3, 2017. Accessed August 21, 2019
- 11 Lander ES. Initial impact of the sequencing of the human genome. Nature 2011; 470 (7333): 187-197
- 12 Green ED, Guyer MS. ; National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside. Nature 2011; 470 (7333): 204-213
- 13 Kennell Jr TI, Willig JH, Cimino JJ. Clinical informatics researcher’s desiderata for the data content of the next generation electronic health record. Appl Clin Inform 2017; 8 (04) 1159-1172
- 14 Rasmussen LV, Overby CL, Connolly J. , et al. Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. Appl Clin Inform 2016; 7 (03) 870-882
- 15 Mate S, Kampf M, Rödle W. , et al. Pan-European data harmonization for biobanks in ADOPT BBMRI-ERIC. Appl Clin Inform 2019; 10 (04) 679-692
- 16 Welcome to FHIR®. HL7® International. Available at: http://hl7.org/fhir . Published November 1, 2019. Accessed January 9, 2020
- 17 Matney SA, Heale B, Hasley S. , et al. Lessons learned in creating interoperable Fast Healthcare Interoperability Resources profiles for large-scale public health programs. Appl Clin Inform 2019; 10 (01) 87-95
- 18 Gordon WJ, Baronas J, Lane WJ. A FHIR human leukocyte antigen (HLA) interface for platelet transfusion support. Appl Clin Inform 2017; 8 (02) 603-611
- 19 Maranhão PA, Bacelar-Silva GM, Ferreira DNG, Calhau C, Vieira-Marques P, Cruz-Correia RJ. Nutrigenomic information in the openEHR data set. Appl Clin Inform 2018; 9 (01) 221-231
- 20 Zayas Cabán T, Okubo T, Chaney K. These Genes are on FHIR! Advances in standardizing genomics through HL7® FHIR®. Health IT Buzz. Available at: https://www.healthit.gov/buzz-blog/precision-medicine/genes-fhir-advances-standardizing-genomics-hl7-fhir . Published November 28, 2017. Accessed August 21, 2019
- 21 Alterovitz G, Brown J, Chan M. , et al. Enabling Clinical Genomics for Precision Medicine Via HL7® Fast Healthcare Interoperability Resources®. Available at: https://healthit.gov/syncforgenes-phase1report . Published November 28, 2017. Accessed August 21, 2019.
- 22 HL7® FHIR® Connectathons. HL7® International. Available at: http://www.hl7.org/events/fhir-connectathon/index.cfm . Accessed August 21, 2019
- 23 Clinical Genomics. HL7® International. Available at: http://www.hl7.org/Special/committees/clingenomics/overview.cfm . Updated September 21, 2016. Accessed January 10, 2020
- 24 2.3.5 Resource Binary – Content. HL7® FHIR® Release 4. Available at: https://www.hl7.org/fhir/binary.html . Published November 1, 2019. Accessed January 10, 2020
- 25 ClinFHIR Launcher. Available at: http://clinfhir.com/ . Published August 3, 2015. Accessed January 10, 2020
- 26 NMDP FHIR Conversion Tool. GitHub. Available at: https://github.com/nmdp-bioinformatics/hml-fhir-app . Accessed August 21, 2019
- 27 201901 Clinical Genomics. HL7® International. Available at: https://wiki.hl7.org/201901_Clinical_Genomics . Updated March 20, 2019. Accessed August 21, 2019
- 28 File: Final S4GP2 Connectathon Utah NBS.zip. HL7® International. Available at: https://wiki.hl7.org/File:Final_S4GP2_Connectathon_Utah_NBS.zip . Published March 20, 2019. Accessed January 10, 2020
- 29 File: Completed Cornell CaT Files.zip. HL7® International. Available at: https://wiki.hl7.org/index.php?title=File:Completed_Cornell_CaT_Files.zip . Published March 20, 2019. Accessed January 10, 2020
- 30 File: NMDP Original and Final Files.zip. HL7® International. Available at: http://wiki.hl7.org/index.php?title=File:NMDP_Original_and_Final_Files.zip . Published March 20, 2019. Accessed January 10, 2020
- 31 API Information for 2015 Edition Products. HealthIT.gov. Available at: https://chpl.healthit.gov/#/collections/api-documentation . Updated December 31, 2019. Accessed January 10, 2020
- 32 EHR Products Used for Meaningful Use Attestation. HealthIT.gov. Available at: https://dashboard.healthit.gov/datadashboard/documentation/ehr-products-mu-attestation-data-documentation.php . Updated January 10, 2019. Accessed January 10, 2020
- 33 Posnack S, Barker W. . Heat Wave: The U.S. is Poised to Catch FHIR in 2019. Health IT Buzz. Available at: https://www.healthit.gov/buzz-blog/interoperability/heat-wave-the-u-s-is-poised-to-catch-fhir-in-2019 . Published October 1, 2018. Accessed August 21, 2019