Existing Wording: finding

Comment:

The term ?finding? is ambiguous in general and even more so within the context of genetics. This comment is described in detail within separate ballot comments, enclosed below in short for convenience. The term finding in the DiagnosticReport genetics profile appears in the UML diagrams from the beginning of the IG but is not defined until section ?1.2.3 Genetic Findings? where it?s described as ?the fine and coarse-grained descriptions of a specimen's genetic characteristics?. However, this description means that genetics findings are in fact the genetics observations referred from this profile. So why introduce a new term if it?s identical to observation? On the other hand, in some texts like ?For example, an interpretation asserting that ?deletions or duplications were found? might be supported by observations of variants that contain deletions and/or duplications?, it?s unclear what?s the real difference between interpretation and observation, let alone finding. Therefore, aligned with the general comment summarized below, it is proposed that genetics findings are what is assigned to the DiagnosticReport conclusion and codedDiagnosis attributes (whose names are proposed in the general ballot comment to be replaced with finding and codedFinding respectively).

General comment on finding (short version of MAY2018 ballot comment on DiagnosticReport): The term ?finding? is ambiguous across FHIR resources, in particular as described /mentioned in the FHIR Observation, DiagnosticReport and Condition resources. For example, the DiagnosticReport description starts with ?The findings and interpretation of diagnostic tests? but it?s unclear whether findings refer to the referenced result observations or to the codedDiagnosis (in which the included term ?diagnosis? seems more advanced along the clinical methodology than just finding). The Condition resource description has one example that equates finding with diagnosis however it?s mostly about capturing problems, disorders/disease, etc. In Observation, finding is mentioned in one of the code/value pair patterns. In SNOMED CT, there are two top-level hierarchies of ?Clinical finding? and ?Observable Entity? and a few attributes of the aforementioned resources are bound to those hierarchies, but not always aligned with the resource main scope. It is proposed to have DiagnosticReport as the main placeholder for findings and rename its conclusion attributes. For more detail, see the full ballot comment.

Summary:

genetic finding