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HL7 FHIR to launch genomic data interoperability community

The newly launched GenomeX community will using HL7 FHIR to share large, complex genomic data between clinical, research and life sciences partners.
By admin
Sep 20, 2022, 8:00 AM

The healthcare and life sciences industries are only at the very beginning of their ability to leverage genomic data to improve patient care. The human genome is staggeringly complex, and there are untold thousands of associations and influences between genomics, diseases and outcomes that researchers have yet to discover.


The scientific challenges of exploring these data sets are great enough without being compounded by issues of data access and interoperability. Unfortunately, researchers and clinicians are already running up against barriers when it comes to querying and exchanging genomic data sets that could lead to life-changing breakthroughs in clinical care.


That’s where HL7 International and the Fast Healthcare Interoperability Resources (FHIR) can help. FHIR is an increasingly popular data standard that uses modern, Internet-based protocols to facilitate the exchange of information across disparate systems.


Through different FHIR Accelerator communities, stakeholders are now coming together to build standardized implementation guides and test real-world use cases for FHIR.


For example, the Argonaut Project focuses on facilitating interoperability between EHRs, while the DaVinci Project does the same in the payer ecosystem. Now, HL7 International is launching a new community to take on the challenge of genomic data.


Under the umbrella of the CodeX FHIR Accelerator, which also supports oncology and cardiovascular projects, the GenomeX domain aims to apply FHIR’s principles to the world of genomic data.


“The goal of the CodeX Accelerator community is to convene stakeholders to draft standards, implement those standards in software, and pilot new workflows in the real-world to demonstrate value across a range of innovative use cases,” said Steve Bratt, Ph.D., program manager at the CodeX HL7 FHIR Accelerator.


“Standards are key to achieving better care, better research, lower costs, and lower burden for caregivers and patients,” he continued. “Our new GenomeX domain is going to bring stakeholders in the genomics space together to develop, implement and test innovative solutions that ultimately lead to better care and research.”


Slowly shifting views on interoperability standards


It’s only recently that healthcare providers and health IT solutions companies have started viewing interoperability as a competitive advantage instead of a threat to their customer base.

“We are at a unique point in history, because we’re actively seeing the market demand FHIR-based standards—and start to put in the work to develop and adopt them,” Bratt said.

“We have powerful business incentives in terms of value-based care and consumerism. At the same time, we have regulations, like the 21st Century Cures Act, that are supporting standards from the federal perspective. This push-and-pull from multiple directions is helping standards-based solutions to come together, which is very exciting to see.”


The motivation to adopt standards may be growing, but not everyone has the interest or ability to engage in the behind-the-scenes work required to develop and deploy workable standards at scale, Bratt acknowledged.

“It’s not easy to devote time and resources to this,” he said. “Businesses have to focus on their customers, and they might not have the bandwidth to join our sessions weekly. Providers are out there saving lives, and they just want their data to flow appropriately without having to dive into the technical side of things.”

“That’s why it’s so important to create an environment where people who are passionate about solutions can do what they do best, which is to build, test and pilot new approaches so that we can get them into the real-world environment quickly and be confident that they’ll work as intended.”

Developing use cases for genomic data interoperability

To continue progress toward the widespread interoperability of genomic data, GenomeX participants will focus on two initial use cases.

First is FHIR-based genomic data exchange.  The community will design and build scalable FHIR genomics interfaces to more easily share data between genomics laboratories to EHRs and genomic repositories.


“We need to be able to move data between partners in a structured format,” Bratt said. “Right now, genomic data exchange is primarily happening through PDFs or through proprietary structured feeds that differ from lab to lab and EHR to EHR.”


“If we can agree that something like 80 percent of the data should look the same and move the same way, we will be lightyears ahead of where we are now.  That will be an incredible leap for actually using this data to support ongoing research and clinical care.”


The second use case is operational in nature. GenomeX will develop methods to access to complex genomic data through application programming interfaces (APIs) that enable developers to more easily view and use these data sets in their research or clinical work.

“This use case is focused on building standardized APIs that can wrap around genomic data repositories and simplify data extraction into a fairly straightforward API call,” Bratt explained. “Once that’s completed, a developer only needs to know some basic things in order to access the right information much more easily.”

Interest in these projects is high, since most stakeholders are facing similar issues with unlocking the potential of their genomic data assets.

“Everyone wants to leverage this data in a faster, more cost-effective manner, so it’s very encouraging to see that so many people view FHIR as the way to make that happen and are eager to participate in the process,” he said.

Looking to the future of seamless genomic data exchange

Genomics is one of the fastest growing areas of clinical exploration, touching a variety of specialties from oncology to endocrinology to cardiology and beyond. Developing shared standards now will make it much easier to share insights, generate new therapies and apply lessons learned to patient care.

“Right now, we are just beginning on our genomics standards journey,” said Bratt. “We need to start simple and build toward more complex solutions, so that we get everyone aligned at the beginning and travel the path together.”

“What we need now is for people to join us,” Bratt stated. “Standards and solutions are only as good as the people who use them. So, we need everyone—labs, payers, life science companies, EHR vendors, and providers—to be part of the leadership. We’re on the cusp of a revolution in terms of genomic data exchange, and we want everyone to be part of pushing us over that horizon into a place where we can use all of this rich data to better help patients.”

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