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Interoperability Proving Ground (IPG) submissions within the ONC Tech Lab are submitted by healthcare, technology and development organizations that are invested in Health IT and Interoperability and want to share, learn and collaborate with similar stakeholders in the US, and around the world.

To view all submissions, please view the IPG link located within the ONC Techlab.

Sync for Genes Phase 2 Pilot - Utah Newborn Screening Program (Utah NBS)

Description 
The Utah Newborn Screening (NBS) Program, a program within the Utah Department of Health, is actively seeking technology solutions for standard-based electronic data sharing with healthcare providers in real-time to ensure optimal clinical care and outcomes for newborns. Currently, the Utah NBS Program has partnered with the Utah Health Information Network (UHIN) and Intermountain Healthcare (IHC) to implement electronic newborn screening orders and results transmission by leveraging the statewide health information exchange infrastructure. The pilot consisted of a simple design that resulted in efficient, electronic transfer of genomics data. Consent is required from the parent or guardian of the infant before any data transfer will be allowed for this pilot project. In this design, IHC will leverage existing resources and expertise from Sync for Genes Phase 1 including the FHIR® API and related infrastructure to produce FHIR® requests for genomics related information. 

The architecture for this pilot addresses the needs of a vulnerable population. By leveraging a health information exchange, this architecture can be scaled from the pilot partner, IHC, to all providers in the state of Utah. By participating in the Sync for Genes Phase 2, we aim to develop a proof-of-concept model for standardized genomics data sharing that can be leveraged and expanded for future implementation sites.
Start Date 
09/22/2017
Projected End Date 
03/22/2019
Project Tags 
  • All of Us
  • Clinical Genomics
  • EHR
  • FHIR
  • genomics
  • HL7
  • interoperability
  • NGS
  • NIH
  • PMI
  • ONC
  • ONC-led
  • Precision Medicine
  • Sync For Genes
Project Point of Contact: dejonesremove@removeutah.gov
Project Results 
To provide actionable feedback to the HL7® Clinical Genomics Work Group (CG WG) and advance the maturity of FHIR® Genomics, Sync for Genes Phase 2 engaged four unique pilot sites implementing the current FHIR® Genomics profiles in Standard for Trial Use (STU) 3. To help advance the maturity level of selected FHIR genomics resources, pilot sites were also encouraged to actively participate in and provide feedback directly to the CG WG. Feedback to the CG WG from the pilot sites on STU 3 implementations, in turn, support the development of the FHIR® specifications in Draft STU 4, which is not currently supported in EHRs. Pilot sites also participated in the Sync 4 Genes Scenario under the Clinical Genomics Track at the January 2019 HL7® Connectathon to further support the development of the FHIR® Genomics specification in Draft STU 4. The goal was to demonstrate connectivity and exchange of clinical genomic data using the FHIR® Genomics specification within an EHR.