A new pilot program called Sync for Genes, funded by the Office of the National Coordinator for Health IT and designed to help bring clinical genomics to the point of care, is quickly taking shape in support of the National Institutes of Health’s Precision Medicine Initiative.
S4Genes is critical to supporting PMI’s national cohort of 1 million or more Americans—the All of Us research program—who will contribute their health information to the landmark study managed by NIH, according to Acting National Coordinator for Health IT Jon White, MD. The information gathered from volunteers will form the basis of a data set that researchers will use to identify better ways to prevent and treat diseases.
“Sync for Genes is our first step towards integrating clinical genomics into the point of care by expediting the use of standards,” such as HL7’s Fast Healthcare Interoperability Resources (FHIR), says White. “It’s meant to enable and improve patients’ ability to seamlessly share their genomic information through application programming interfaces.”
The pilot is being led by Gil Alterovitz, Ph.D., a 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. According to Alterovitz, S4Genes has been created to leverage HL7 FHIR for communicating information from clinical genomic labs in a format for universal use across medicine.
S4Genes is envisioned as enabling the sharing of genomic information—including data from next generation sequencing laboratories—for both point-of-care applications and research in a “consistent and usable way,” adds Alterovitz.
ONC Chief Scientist Teresa Zayas-Caban says her agency is coordinating with NIH on the project. “The goal is that what comes out of Sync for Genes will facilitate the movement of genomic data into and potentially back out” of PMI’s All of Us national cohort research program as the data is “returned to participants and potentially to their providers.”
White contends that PMI’s All of Us is “a great reason to do this, but we think that it’s going to have a lot broader applicability,” noting that the cost of genetic testing has come down significantly, which is making its use more financially feasible.
“There are kind of rifle-shot instances where genetic testing is important for routine clinical care, but in general, it’s not widely distributed yet,” observes White. “We and many other folks are anticipating that’s going to be changing, and the growth is not going to be in a linear fashion in the near future. There’s going to be need for this information.”
Another initiative—Sync for Science (S4S), which is being coordinated by NIH, ONC and Harvard Medical School’s Department of Biomedical Informatics—is also designed to support PMI’s All of Us research program. Launched in February 2016, S4S is meant to make it easy and safe for patients to share electronic health record data with researchers.
The initial focus of S4S is on a core data set that includes a list of elements including demographics, lab results, medications, problem lists and vital signs, as defined in ONC’s Common Clinical Data Set. Like S4S, S4Genes is leveraging HL7’s emerging FHIR interoperability standard.
“Sync for Genes is building on some of the development work from Sync for Science in terms of leveraging the FHIR standard—in this case, to enable sharing of genomic data,” says Zayas-Caban, adding that Alterovitz is coordinating directly with Josh Mandel, MD, health IT ecosystem lead at Verily (Google Life Sciences), who is in charge of technical coordination for S4S.
At the same time, Zayas-Caban notes that “whereas Sync for Science is at a point for enabling data sharing from provider’s electronic health records for research, the genomic resources that have been developed under FHIR are not there yet.”
“Sync for Genes is the first step toward integrating clinical genomics into point of care and expanding from Sync for Science’s core clinical data to genomics—by leveraging FHIR Genomics,” states the S4Genes website.
FHIR Genomics, the portion of FHIR related to clinical genomics, was designed to meet current clinical genomics use cases being utilized at healthcare organizations, with special focus on clinical sequencing, says Alterovitz, who adds that ultimately it will enable integration of clinical genomic information for better patient care via point-of-care apps, patient-facing apps, as well as clinical research and analysis.
White notes that five different S4Genes pilot sites—representing labs, providers, health IT developers, patient coordinators, and other stakeholders—will be announced soon as part of the effort to “provide learning in actionable settings.”
The sites will be taking “those standards that we’ve been working on and we’re going to be pilot testing them,” concludes White. “The information from those pilots will be used to facilitate standards and processes that will be used to share clinical genomic information in order to help to improve patient care.”
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