Clinical Genomics Domain Information Model(s) Project

Project Scope

Throughout the past decade, the HL7 Clinical Genomics has been developing various artifacts (e.g., informative, DSTU and normative specifications), domain analysis models, storyboards, etc. The approved/trialed/proposed specifications are of different HL7 flavors, i.e., v3, v2, CDA and recently FHIR. These artifacts share some common view of clinical genomic data, but lack semantic alignment at the modeling level. Therefore, it is crucial to have agreed-upon Clinical Genomics Domain Information Model(s) (CG DIMs), which have the following functions:

• The CG DIMs reflect the results of the Domain Analysis Model efforts
• The CG DIMs serve as a single source of semantics with which all standard specifications are aligned
• The CG DIMs are represented in an HL7 standards-independent format, e.g., plain UML
• The CG DIMs are Universal and do not mandate binding to specific vocabularies (these bindings could be present in realm-specific versions of the actual standard specifications)