Health Level 7 International has published the first domain analysis model for clinical sequencing, which describes current clinical genomics use cases gathered from Boston Children’s Hospital-Harvard Medical School, the Mayo Clinic, the National Marrow Donor Program and Partners Healthcare.

“Until recently, precision medicine has been something that people looked to as happening sometime in the future. Now, with these standardized use cases, you have a list of use cases that are going on today at different institutions,” says Gil Alterovitz, co-chair of the HL7 Clinical Genomics Work Group and a Harvard professor with the Computational Health Informatics Program/Boston Children’s Hospital.

Alterovitz, who co-led the domain analysis model (DAM) publication, adds that the purpose of the various use cases in clinical genomics is so that others can learn from them. The document provides relevant stakeholders, standards and workflow diagrams to “practically illustrate the testing and decision making process and the manner in which orders and information is exchanged between patients, clinicians, laboratory technicians, geneticists, electronic health records, and government agencies.”

The publication’s 20 stakeholder categories range from reference laboratories to molecular pathologists, and include such scenarios as specimen identification, germline testing, cancer profiling, somatic testing, decision making tools, family history and drug dosage calculators, public health reporting, data warehouses, cytogenetic marker identification via sequencing, pharmacogenomics, state and regional health information exchanges, and human leukocyte antigen typing.

In addition, the document discusses the current and future challenges associated with the implementation and utilization of clinical genomics.

Chuck Jaffe, MD
Chuck Jaffe, MD

“The publication of this model from HL7 is a critical milestone for today’s practicing clinician by enabling precision medicine in a traditional clinical environment,” says HL7’s CEO Chuck Jaffe, MD. “It also provides a glimpse into the future. It’s one important step toward the seamless integration of genomic data into the clinical record, enabling both a leap in care quality and a gateway to translational science and research.”

According to Alterovitz, the model also served as the basis for the underlying use cases selected for the recently launched Sync for Genes program, funded by the Office of the National Coordinator for Health IT and designed to help bring clinical genomics to the point of care. S4Genes is supporting the National Institutes of Health’s Precision Medicine Initiative national cohort of 1 million or more Americans—the All of Us research program—who will contribute their health information to the landmark NIH study.

Also See: Sync for Genes seeks to bring genomics to the point of care

As part of that effort, S4Genes will leverage HL7’s Fast Healthcare Interoperability Resources (FHIR) to communicate information from clinical genomic labs in a format for universal use across medicine. Alterovitz, who is co-chair of the HL7 Clinical Genomics Work Group, notes that the DAM document is the basis for the design of FHIR Genomics—the portion of FHIR related to clinical genomics—to meet current clinical genomics use cases being utilized at healthcare organizations, with special focus on clinical sequencing.

“This is the first release of the domain analysis model document Clinical Genomics Work Group that includes the area of clinical sequencing,” concludes Alterovitz. “The next planned release will be even broader and will integrate other parts of clinical genomics. The next step is adding additional use cases beyond clinical sequencing.”

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