‘Sync for Genes’ to Complement ‘Sync for Science’

March 9, 2017
Sync for Genes will leverage FHIR infrastructure for communicating information from clinical genomic labs in a format usable across several medical settings.

Last year the National Institutes of Health (NIH), in collaboration with the Office of the National Coordinator for Health IT launched Sync for Science, a project to allow individuals to access their health data and send it to researchers in support of the Precision Medicine Initiative (now dubbed All of Us). Now there is a complementary effort, also using HL7’s FHIR standard, to integrate clinical genomics data. Sync for Genes, also backed by ONC, was established to expedite the use of standards to enable and improve patients’ ability to share their genomics information.

Gil Alterovitz, Ph.D., assistant professor in the Division of Medical Sciences/Computational Health Informatics at Harvard Medical School/Boston Children's Hospital and co-chair of HL7’s Clinical Genomics Work Group, is leading the Sync for Genes effort. At last year’s HL7 Genomics Policy Conference in Washington, D.C., Alterovitz gave a presentation explaining how Sync for Genes would complete the “Ring of FHIR” by enabling genomic data to be shared in the same way that SMART on FHIR apps are starting to ease the sharing of clinical data.

In that presentation Alterovitz described how most physicians currently receive results of clinical genomics lab tests: on a paper report with boxes checked by hand, and no structural data to share. “This is not the way we want to do clinical genomics,” he said. “What we want is to have apps. In a few years, we will have apps to do cutting edge clinical genomic medicine at the point of care.”

Developers are working on SMART on FHIR apps that launch from the medical record and allow clinicians to make orders and receive results from genomic tests and visualize and present that information, he said. The apps can be customizable for different types of needs.

One example is the SMART Precision Cancer Medicine app developed at Vanderbilt-Ingram Cancer Center, designed to aid cancer care by enabling clinicians to pull up contextual information about a patient’s cancer genome in the clinic setting.

Sync for Genes will leverage FHIR infrastructure for communicating information from clinical genomic labs in a format for use across medical settings. The idea is that genomic data requests and responses would flow between the EHR and the sequencing lab. Then the genomic data flows from there to smart apps for the clinician and patient and to a research data warehouse, all using FHIR.

The effort’s web site notes that the Sync for Science pilots drew data out of EHR systems; Sync for Genes is the first step toward integrating clinical genomics into the point-of-care. It also complements Sync for Science’s efforts in sharing clinical Meaningful Use 3 core datasets from EHRs, by enabling sharing of clinical genomic information for research resources such as All of Us. 

In his Feb. 19 HIMSS talk "Precision Medicine for Everyone," Jon White, Acting National Coordinator for Health IT, said Sync for Genes would allow you to share your genomic data from next-generation sequencing laboratories.

“Specifically, last month five pilot groups, representing a variety of genomics services [as part of Sync for Genes] began working on testing and developing enhancements to the HL7 clinical genomics workgroup’s suite of standards,” White said.

Sync for Genes has participation from labs, providers, government, vendors, patients, and coordinators in order to provide learning in actual settings. The information from this project will be used to facilitate standards and processes used to share clinical genomic information in order to help improve patient care.