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 - National Marrow Donor Program (NMDP)

Description
NMDP collects molecular biomarker data such as HLA and KIR used for matching patients needing life-saving hematopoietic stem cell transplants with potential donors. NMDP currently collects these data using Histoimmunogenetic Markup Language (HML) formatted reports. This includes capturing information about the specimen tested, the lab test performed, the loci targeted, the consensus sequences found, and the alleles assigned. NMDP believes that this standards-based work will make it possible for it to achieve its vision of exchanging patient/donor immunogenetic data with consent directly with EMRs, typing labs, and other healthcare and research systems.

To pilot this work, the Stanford Blood Center sent HLA genotyping data in HML format that was collected as part of the 17th International HLA & Immunogenetics Workshop. This data is converted to FHIR® format using a HML2 FHIR® tool developed and uploaded to our FHIR® server for later analysis and interpretation. 
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
  • ONC
  • ONC-led
  • PMI
  • Precision Medicine
  • Sync For Genes
Project Point of Contact: apurva.dhariaremove@removeesacinc.com
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.