0.3 - Continuous Build

GenomicsReporting - CI build (v0.3). See the Directory of published versions

Appendix C: Querying Genomics Information

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.