New HL7 community working to ease the exchange of genomic data

GenomeX will devise ways to apply the FHIR standard to enable use of patients’ genomic information for research or treatment.

GenomeX:, HL7's latest community, is focused on supporting FHIR-based genomic data exchange.

HL7 has launched a new effort, GenomeX, to advance the interoperability of genomic data through the use of its Fast Healthcare Interoperability Resources, or FHIR, standard.

The new GenomeX “community” will develop and promulgate ways to use FHIR to improve access to patients’ genomic information. The initiative is a new domain under CodeX.  CodeX is a FHIR accelerator that aims to speed up the development of interoperable data modeling and applications to improve patient care and research in oncology, cardiovascular medicine and, now, genomics.

"The use of FHIR to support data exchange could lead to wider use of genomic data for medical research and easier inclusion of data in electronic health records for precision patient care."

Steve Bratt, leader of health standards and interoperability, MITRE

The use of genomic information in healthcare is rapidly growing as genomic sequencing becomes more widely available. However, the huge amount of data derived from tests is not easily exchanged between testing labs, which primarily use proprietary systems or older HL7 standards, such as HL7 Version 2.

The use of FHIR to support data exchange could lead to wider use of genomic data for medical research and easier inclusion of data in electronic health records for precision patient care, says Steve Bratt, leader of the health standards and interoperability group at MITRE and a leader within CodeX.

Background and purpose

GenomeX is a logical extension for CodeX, which has been focusing on creating code sets and implementation guides that improve cancer care, for example, by developing ways to support reporting to cancer registries or to link patients to clinical trials through information in their EHRs.

CodeX had anticipated that it would eventually expand efforts to use FHIR in genomics because of the importance of genomic data in treating cancer, Bratt explains.

The emerging GenomeX community believes that “enabling the use of a patient’s genomic information in their care opens a new chapter in physicians’ ability to proactively address and more precisely target health conditions,” he says.

The community will work on “scalable pilots that leverage the use of FHIR Genomics across multiple use cases,” Bratt adds. Initially, these are expected to include:

  • FHIR Genomics Data Exchange, which is expected to design and build scalable FHIR Genomics interfaces so that genomic data can easily be shared by laboratories with EHRs or genomic repositories.
  • FHIR Genomics Operations, which will enable access to complex genomic data through APIs so that developers can more easily develop and populate data for a range of genomic applications.

HL7 has already started work on a Genetic Reporting Implementation Guide, which covers the reporting of representations of genetic variations and the results of full and partial genetic sequencing. The GenomeX effort will build off of that to create ways to facilitate the exchange of genomic information among labs, health systems and caregivers.

Without standards, exchanging patients’ genomic data “is a real pain point for everyone,” Bratt adds.

Future directions

GenomeX, which already has held two meetings, will focus its outreach over the next few months on genetic labs, systems vendors and pharmaceutical companies, Bratt says. The community will then outline potential use cases.

Including genomic information in patient records could prove helpful in matching patients to clinical trials that could address their conditions, Bratt points out.

As FHIR use cases are developed to address specific problems in exchanging genomic information, the standard likely will be more widely adopted among records vendors, genetic labs and the broader healthcare industry, he contends.

“FHIR is the information highway of the future. It’s so much easier to use and it’s familiar to developers,” Bratt adds. “Developers understand how to use RESTful APIs. It’s a really unique opportunity in history to impact healthcare through exchanging genomic data.”

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