ONC Enters Next Phase of Genomic Data Sharing Pilot Project

By Jessica Kent

– ONC is currently recruiting additional demonstration sites for phase four of its Sync for Genes pilot project, an effort to standardize and improve genomic data sharing between laboratories, providers, patients, and researchers.

Launched in 2017, the ONC Sync for Genes pilot aims to advance the use of industry-supported standards for the exchange and integration of genomic data. The program leverages measures like HL7 FHIR to bridge the gaps among health IT systems.

“The use of genetic testing is becoming increasingly routine in patient care. For example, tests are available to check newborns for genetic disorders, screen would-be parents for carrier status, inform cancer care, and evaluate potential pharmacogenetic associations,” wrote AAAS science and technology policy fellow Allison Dennis, senior program manager Kevin Chaney, senior program analyst Tracy Okubo, and chief scientist Teresa Zayas Caban in an ONC blog post.

“However, the laboratories that perform these tests face many challenges that keep them from being able to return clinical genomic results in a standardized way and fully leverage a patient’s electronic health record. This also affects healthcare professionals’ ability to deliver precision medicine and conduct precision medicine research. That’s where ONC’s Sync for Genes project comes in.”

The first two phases of Sync for Genes aimed to bring genomics to the point of care while also making genomic data available for research. These phases led to significant refinements of the HL7 FHIR Clinical Genomics Domain Analysis Model and involved demonstrations of foundational versions of the HL7 FHIR Clinical Genomics Implementation Guide.

The third phase of Sync for Genes focused on identifying the challenges faced by testing labs when they adopt health IT standards to share genomic results. This phase centered around two demonstration projects, representing both labs that generate clinical genomic data and users who order tests and receive results.

The first demonstration project was conducted at Baylor College of Medicine Human Genome Sequencing Center, a genomic testing lab. The second occurred at the National Marrow Donor Program Center for International Blood and Marrow Transplant Research, in partnership with a histocompatibility testing lab.

Both demonstration projects developed customized implementation guides based on the HL7 FHIR Genomics Reporting Implementation Guide, modified to fit the two projects’ specialized use cases. The projects helped the HL7 Clinical Genomics Work Group identify challenges and solutions to improve the resources for future use.

“While the majority of the recommendations are highly technical, they help shape broader efforts related to the capture of standardized genomic information that can be used within electronic health records,” the authors stated.

“The increased ability of genomics testing laboratories to share data with providers in a standard way and the demonstration of those standards’ flexibility to accommodate new genomics testing is a significant step forward.” 

As part of phase four of the program, ONC is currently recruiting for additional demonstration sites until January 15, 2021. Selected sites can help ONC test and improve the electronic exchange of genomic data between organizations with at least one data receiver, like a patient or caregiver. More information is available on the Sync for Genes webpage.

The Sync for Genes pilot program is a joint effort from ONC and NIH under the Precision Medicine Initiative. Leaders expect that results from the program will accelerate the future of precision medicine research by a new wave of investigators.

“Each phase of Sync for Genes has brought insight and progress towards seamlessly bringing genomic information to the point-of-care. The increasing ease with which genomic tests can be evaluated and understood by providers and their patients promises to accelerate the future of precision medicine,” the authors concluded.

“We encourage you to get involved with HL7 and help shape the future of these important standards, all for the benefit of our patients.”

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