Existing Wording: ?interpretation? and ?impact?

Comment:

The distinction between the terms ?interpretation? and ?impact? is unclear in my mind. In essence, there are genomic observations made and then get analyzed. The types of analysis HL7 Clinical Genomics should be focusing on are those beyond the initial analysis (e.g., variant calling), and can be roughly called ?phenotype?. The latter can be an umbrella to all kinds of terms like interpretation, assessment, significance, relevance, impact, annotation, etc. But these terms must be well defined in a mini-ontology with the understanding that they?re all the result of some downstream analysis as aforementioned. This has been described in past efforts of the CG group, e.g., in the ?Clinical Genomics Statement? ? a specialization of the HL7 Clinical Statement model, which was used in our v3 and CDA specs.

Summary:

phenotype ontology