Overall Interpretation and Conclusion

On the report, it is important to answer the question "Did you find anything when you did the test I asked you to do?" The data sender can use attributes of conclusionCode and conclusion to represent the summary result of the test (e.g., Positive, Negative, Unknown) and a textual summary. These are typically used when the genomic test was looking for a particular genomically-based disease. It allows indication of whether genomic results known to be associated with the disease were found or not.

Linking To Genomic Observations

Results observation profiles, like genomic observations, are typically referenced directly by a Genomic Report. The genetic findings and implication profiles all contain links to computably define their composite relationships (e.g., the variant observation is referenced within the implication profile using derivedFrom). However, observations could be organized into groups by other observations. See this grouping guidance for an overview with examples and considerations for processing reports. Be aware that consumers of Genomic Diagnostic Report MUST navigate through all hasMember relations and navigate through derivedFrom relationships to ensure processing of all clinically relevant information.

Risk Assessments

In some cases, the lab or other reporting organization may generate risk assessments as part of their reports. These are referenced from a report or an observation from the Genomic Risk extension.

Presented Form

When sending a copy of the report (e.g., PDF or other document containing the written report), use presentedForm. Note this is different from the Related Artifact extension, which is used to reference citations, evidence and other supporting documentation for the observation or report. Another approach which should be avoided (at least for this current release) is the DiagnosticReport.media attribute. Its definition focuses on "Key images associated with this report" which does not align well with this use case.

Complex Reports

If needed, large or complex genomic reports may be broken down into sub-reports using core DiagnosticReport extensions like extends or summaryOf. This approach is particularly useful when different labs or services are performing later steps in the analysis, for example. Or a panel Observation.code can be used.