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HL7 Publishes Domain Analysis Model for Clinical Sequencing

April 11, 2017
by Rajiv Leventhal
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Health Level Seven International (HL7), the organization that’s home to the Fast Healthcare Interoperability Resources (FHIR) standard, has announced the first publication of a domain analysis model for clinical sequencing which captures precision medicine’s use cases to facilitate interoperability of genetic and genomic data.

According to a press release, this domain analysis model (DAM) was the basis for the design of FHIR Genomics, the genomics components designed under purview of the HL7 Clinical Genomics Work Group within FHIR Release 3. The DAM has also served as the foundation for underlying use cases selected for the Sync for Genes program.

According to HL7, an authority devoted to healthcare information interoperability and standards with affiliates established in more than 30 countries, the Clinical Sequencing DAM describes clinical genomics use cases in clinical settings today, including relevant stakeholders, standards and workflow diagrams which help to illustrate the testing and decision making process and the manner in which orders and information is exchanged between patients, clinicians, laboratory technicians, geneticists, EHRs (electronic health records) and government agencies. It catalogs clinical scenarios, discusses current challenges and lessons learned, and raises questions to consider for standards-based implementations.

What’s more, the DAM will aim to help analysts and developers incorporate genomic data in clinical care and translational research IT environments. It also has the potential to help standards developers extend support of clinical sequencing, and identify existing gaps and extensions, according to officials.

The publication’s 20 stakeholder categories range from reference laboratories to molecular pathologists, and scenarios include: 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 (HIE), and human leukocyte antigen (HLA) typing. The DAM also contains sections that recommend nomenclature, terminology, reference knowledge databases, vocabulary constraints, and existing HL7 clinical genomics specifications.

“The HL7 Domain Analysis Model: Clinical Sequencing should be a boon for multiple stakeholders seeking to understand and implement precision medicine with HL7 standards via the Sync for Genes program, or on their own,” said Gil Alterovitz, Ph.D., co-chair, HL7 Clinical Genomics Work Group and a Harvard professor with the Computational Health Informatics Program/Boston Children’s Hospital.

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