Topic 1: Vote on JIRAs

T

Key

Summary

Resolution

Resolution Description

Reporter

FHIR-39293

HGNC gene and gene group code systems in THO need to use numeric ID as code

Persuasive with Modification

Update the HGNC ValueSet to refer to the new NamingSystem.

Update examples to refer to new NamingSystem.

Follow up with HTA on aligned guidance and update the External Coding Systems appendix entry for HGNC to read:

"""

The HGNC gene table carries gene IDs, gene symbols and full gene names. Guidance from HGNC confirms that gene symbols are not unique across species and have been known to change in some instances. Thus the commonly used gene symbols should be encoded in FHIR as "displays" with the corresponding IDs (beginning with "HGNC:") as the "codes".

HGNC also provides an index on gene families/groups. GeneGroup IDs do not begin with "HGNC:", so care must be made to ensure alignment of concepts when viewing an HGNC ID from an older system that may be referring to the GeneID and not a gene group. For example, 588 refers to the HLA gene family, but HGNC:588 identifies the ATG12 gene. To provide clarity for systems that do not distinguish codes from genes and gene families, we suggest using "http://www.genenames.org/geneId" for genes and "http://www.genenames.org/genegroup" us gene families as code system URIs.

The group also would prefer the usage of http://www.genenames.org/geneId as the preferred identifier for gene ids (making http://www.genenames.org an alternative identifier)

"""

Joel Schneider

FHIR-37893

Add ranges parameter to subject phenotype operations

Persuasive

Approve changes per the branch http://build.fhir.org/ig/HL7/genomics-reporting/branches/operationsUpdates

Srikar Chamala

FHIR-37892

Add phase data to find subject variants operation

Persuasive

Add changes per http://build.fhir.org/ig/HL7/genomics-reporting/branches/operationsUpdates 

Srikar Chamala

 

Record vote on JIRAs

 

Topic 2: WGM Agenda

https://confluence.hl7.org/display/CGW/2023-01+CG+WGM+Agenda



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