Stream: genomics
Topic: mCODE: region-studied
May Terry (Oct 30 2019 at 18:35):
Currently investigating our changes for GForge issues related to region-studied (GF#23998, GF#24004, GF#24034, GF#24480). As a general question, in the CG Reporting IG, is there a reason why region-studied was made an Observation when the general guidance for an observation is that there is a result? Moreover, why is region-studied a result in itself as opposed to just some supporting information about the test? On a related note, how would we tie the variant to region-studied if there are multiple regions (0..*)? Is it anticipated that this is inferred from the variant HGVS? (cc: @Mark Kramer )
Kevin Power (Oct 30 2019 at 19:05):
As a general question, in the CG Reporting IG, is there a reason why region-studied was made an Observation when the general guidance for an observation is that there is a result? Moreover, why is region-studied a result in itself as opposed to just some supporting information about the test? On a related note, how would we tie the variant to region-studied if there are multiple regions (0..*)? Is it anticipated that this is inferred from the variant HGVS?
We may move 'region studied' somewhere else in the next release, but the primary thinking for now is that more systems will support an Observation than an extension on DiagnosticReport or ServiceRequest, or a more rarely used resource like PlanDefinition. But, defining the methodology details is an area of interest to improve.
I don't think we envisioned making a relationship between the variant and a region-studied. There should be enough details on the variant to describe its location. I would hope that the sender of data would not ONLY share this via HGVS for many of the reasons discussed on the other threads here recently.
May Terry (Nov 01 2019 at 13:10):
Thanks for the reply @Kevin Power . I suppose that pragmatically makes sense, although it seems a bit out of line with the intent for an Observation. We can consider documenting the inference of a region studied based supporting attributes in the Variant profile. I can bring it back to the mCODE team and let the team know on the CG Monday call.
Jamie Jones (Nov 01 2019 at 14:14):
In terms of 'having a result' I believe having component values aligns with that. We had also at one point considered using RegionStudied as a container, grouping variants found in the region described. (This concept was not discussed widely outside Jan'19 connectathon)
Last updated: Apr 12 2022 at 19:14 UTC
