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Agenda:

Liz / Rachel

FHIR-27748 - Rename "Functional Annotation" Component to "Variant Consequence" TRIAGED 

FHIR-27747 - New Component for Functional Effect TRIAGED 
Kevin (discuss what the 'genomics guidance' page should/should not contain)
FHIR-27159 - Update Genomics Guidance page to more clearly point to our IG TRIAGED 

FHIR-16402 - Add material from guidance document TRIAGED 

FHIR-27159 - Update Genomics Guidance page to more clearly point to our IG TRIAGED 

https://www.hl7.org/fhir/genomics.html

Discussion:

  • 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:
    1. move the content into our IG
    2. move the content to Molecular Sequence
    3. create another page in core and move it there
  • Liz: in favour of a clean landing page, move the content into the IG

Resolved

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

Resolved

FHIR-27747 - New Component for Functional Effect TRIAGED 





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