FHIR-27159 - Update Genomics Guidance page to more clearly point to our IG TRIAGED
- Bob D: The page should be updated to "don't look at anything here, go to the IG", question is if this page contains information we want to keep (different tracker discussed later)
- Kevin: could update the page to a landing page telling people to go to the IG
- FHIR-I was asked yesterday in the FHIR-I joint meeting about including our applied PR to R5 into the R4B release. Couldn't get it into the FHIR 4.0.1 technical correction release, as this isn't considered to be a technical correction but a content change.
- Kevin: could try to get a updated page into R4B
- Bob D: remove everything, keep a link to the ig. Could include the content in a part of the IG.
- Arthur: the page needs a strong statement that implementers should follow the IG
- Kevin: 3 Options:
- move the content into our IG
- move the content to Molecular Sequence
- create another page in core and move it there
- Liz: in favour of a clean landing page, move the content into the IG
FHIR-27748 - Rename "Functional Annotation" Component to "Variant Consequence" TRIAGED
Liz & Rachel presenting the proposal:
- Proposal to create new LOINC code for molecular consequence
- extensible value binding to the structural_variant SO branch (SO:0001537)
- functional annotation will be renamed to molecular consequence, binding will stay the same
- amino-acid-change-type is also potentially overlapping with the molecular consequence concept, and therefore potentially also be merged
- Discussion: should amino-acid-change type merge als be included into the tracker disposition?
- → breaking change which should discussed in another issue
- create Tracker item: merging amino-acid-change-type and molecular consequence
FHIR-27747 - New Component for Functional Effect TRIAGED
- Clinvar has a field "functional consequence" similar to the functional effect concept, but has little standardization terminology.
- A functional effect is an implication, so implication could be the correct location for this information?
- Discussion: still unclear wether this is is a component, or an Implication. Doesn't fit in the current Implication profiles well.