0.4 - Continuous Build

GenomicsReporting, published by HL7 International Clinical Genomics Work Group. This is not an authorized publication; it is the continuous build for version 0.4). This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Appendix C: HL7 Domain Analysis Model

This document develops a domain analysis model for various use cases in clinical genomics with an emphasis on clinical sequencing. The model describes and outlines a multitude of use cases and scenarios in which clinical sequencing testing is currently recommended (i.e. somatic testing) or in which patient genomics can be pertinent for clinical or commercial decision making (i.e. trial feasibility).

Relevant stakeholders, standards, and workflow diagrams help 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, EHR, government agencies, etc. The document further discusses the current and future challenges associated with the implementation and utilization of clinical genomics, and the intent of the document is to inform standards developers for the design of interoperable solutions to these challenges and use cases.