Health Level Seven® International (HL7), an authority for health IT interoperability and provider of the Fast Healthcare Interoperability Resources (FHIR) standard, today announced that it has published the HL7 Domain Analysis Model: Clinical Sequencing, a model which captures precision medicine’s use cases to facilitate interoperability of genetic and genomic data.
Here are five things to know about the new model:
1. . 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.
2. 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 and government agencies.
3. The model catalogs clinical scenarios, discusses current challenges and lessons learned, and raises questions to consider for standards-based implementations.
4. DAM will help analysts and developers incorporate genomic data in clinical care and translational research IT environments. Additionally, it will also help standards developers extend support of clinical sequencing, and identify existing gaps and extensions
5. 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, PhD, co-chair, HL7 Clinical Genomics Work Group and a Harvard professor with the Computational Health Informatics Program/Boston Children’s Hospital. Dr. Alterovitz also co-led the Domain Analysis Model: Clinical Sequencing publication.
