Sync for Genes Phase 4 Demonstrations Selected

Tracy Okubo; Kevin Chaney, MGS; Allison Dennis and Robert Freimuth | April 21, 2021

Today, ONC is pleased to announce two demonstration sites selected for Sync for Genes Phase 4. Since its launch in 2017, the ONC Sync for Genes project has advanced the standardized sharing of genomic information between laboratories, providers, patients, and researchers. Sync for Genes uses the Health Level 7 (HL7®) International FHIR® standard to enable the electronic sharing of genomic data.  

Phase 4 centers on improving the electronic exchange of genomic data between organizations with at least one data receiver, such as a patient or family caregiver. Phase 4 builds on the previous Sync for Genes phases that have sought to bring genomic information to the point-of-care. Notably, the two demonstration sites ONC selected are both seeking to implement standards to improve the care of pediatric patients. 

ONC is pleased to announce two demonstration sites selected for Sync for Genes Phase 4

The Utah Newborn Screening (NBS) Program: Building off its work in Phase 2 of Sync for Genes, NBS plans to develop a proof-of-concept, web-based application using the SMART on FHIR standard that would interact with a database containing the genomic variant data for the patient.  

In Phase 2, NBS successfully showed that raw next-generation sequencing data could be transmitted through the HL7 FHIR standard. That project focused on transferring FHIR resources from one test server to another. Under Phase 4, NBS intends to expand on its previous work to tailor genomic variant result data to healthcare providers such as clinical specialists and general practitioners.  

The proposal builds on the need to transfer, consume and integrate genomic information in clinical decision algorithms. NBS will partner with Intermountain Healthcare, a Sync for Genes Phase 1 participant, to pilot the application’s NBS genomic variant provider reports with healthcare providers. As in the previous program cycle, this relationship will allow the organization to address the technical components of integrating reports into electronic health records. 

The Children’s Hospital of Philadelphia (CHOP): For this project, CHOP plans to exchange genomic diagnostic data more effectively between treatment sites, specifically for data of brain tumor patients. The Division of Genomic Diagnostics at CHOP (DGD) has identified approximately 400 participants who have given consent through the Children’s Brain Tumor Network.  

The Center for Data Driven-Discovery in Biomedicine at CHOP will work with the DGD bioinformatics team to structure data through the appropriate Sync for Genes FHIR standard and provide access to the treatment team at the University of San Francisco, California (UCSF). This transfer of data will be the primary focus for the program’s first three months. Once complete, UCSF will incorporate that data into its relevant downstream clinical and research systems during a second three-month period. 

This data is currently custom formatted and typically exchanged over email. The project will investigate streamlining the sharing of this data, offering providers with real-time genomic data on their patients, along with molecular data derived from outside sources like CHOP and DGD. 

Continued Progress for Genomic Research 

Sync for Genes is one of ONC’s projects supporting the National Institutes of Health’s Precision Medicine Initiative, a nationwide effort to move away from a one-size-fits-all approach to healthcare and create tailored treatments based on a person’s unique characteristics.  

To help meet that larger objective, ONC administers projects to fuel innovation and research around data interoperability. This includes Sync for Science, which aims to develop simple and secure ways for individuals to access and share electronic health data with researchers, and Advancing Standards for Precision Medicine, which works to make health data easier to share through a focus on standards in mobile health, sensors and wearable data as well as social determinants of health. 

As part of its Sync for Genes work, ONC organizes demonstration projects by recruiting organizations already conducting, or ready to conduct, real world activities benefitting from and informing the use of standards aligned with ONC’s focus.