HL7 Clinical Genomics Weekly Call - Oct 31, 2023 11:00 AM (US Eastern)

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Attending the meeting


Meeting ID: 298 006 8716 // Passcode: 2020


Attendees Sign-in

Presiding Co-Chair (Kevin Power - CMH - kmpower@cmh.edu  —- May Terry - MITRE - mayT@mitre.org

  1. Patrick Werner - MOLIT Insitut - pw@molit.eu  
  2. Joel Schneider - NMDP/CIBMTR - jschneid@nmdp.org
  3. Patrick McCormick - IMO - pmccormick@imohealth.com
  4. Raja Kathirvel - Philips - raja.kathirvel@philips.com
  5. Bob Freimuth - Mayo Clinic - freimuth.robert @ mayo.edu
  6. Srikar
  7. Soyean Kim CIDGOH, SFU ska8@sfu.ca
  8. Shahim Essaid CU shahim@essaid.com
  9. Michael Watkins - UChicago - michaelwatkins@bsd.uchicago.edu 
  10. Walter Sujansky - FDA  walter.sujansky@fda.hhs.gov 
  11. Willie Chang - Epic
  12. Aly Khalifa - Mayo Clinic - khalifa.aly@mayo.edu (:30)
  13. May Terry - MITRE - mayT@mitre.org (:30)

Agendas and Important Dates 


CG Call Date


Agenda https://confluence.hl7.org/display/CGW/Future+Topics+for+Weekly+Meetings

Important Dates



Review and approve WGM minutes (Kevin)

Review draft of ‘somatic guidance’ (Srikar)



Block Vote (Kevin)

Review draft of ‘somatic guidance’ (Srikar)



Review Connectathon Proposals and ideas



Review of pathogen genomics (Soyean)

Update on current connectathon proposal





Review and vote on NIB (Kevin)

Quick update on the FMH genetics profile (Kevin/Shahim)



Connectathon Track Proposal Review

Nov 12 - NIB deadline



November 17 - 2024JAN FHIR Connectathon Proposals Due







Dec 5 - Content freeze (STU3 IG)





Dec 19 - Content QA complete


Dec 22 - Ballot opens




HL7 FHIR Connectathon

Jan 16, 2024 to Jan 18, 2024 - Online/Virtual


January Working Group Meeting

Jan 29, 2024 to Feb 2, 2024 - Virtual Event

Subgroup reports

Topic 0: Approval of Minutes from Last Meeting

"You have received the minutes. Are there any corrections to the minutes? (pause) Hearing none, if there are no objections, the minutes are approved"

  • Minutes are Approved

Topic 0.5: Congrats Michael Watkins as co-chair elect

Background in clinical genomics, has implemented versions of the IG

Topic 0.75: Discussion with Patient Care RE: ‘genetics profile’ of FamilyMemberHistory

Shahim - in the meeting with PC, we reviewed the profile (extensions for parents, siblings, genetic observations). The PC group was not aware of any usage of the profiles, extensions, value sets (etc …). No decisions yet, but suggestions to ask the community for implementor usage, and if little or none, perhaps we will remove the profile, extensions, value sets. Other discussion - where should these kinds of features (pedigree, linked observations) go in the future? Phenomics IG? New IG? Genomics Reporting? Still unknown.

Patrick: not aware of any implementations

Joel: perhaps we should check with Grant Wood.

Kevin: PC will reach out to the community

Bob F: Not aware of implementations, but we need a champion or driver

Shahim: focus now is what to do with current, then can consider what to do in the future

Patrick: little technical concerns

Topic 1: Review and Vote on the NIB (Kevin)


New profile for Molecular Consequences. New profile and guidance for Biomarkers and removing of old TMB and MSI profiles. New artifacts to backport GenomicStudy from R5. New category (genetics) required for all Observation profiles. Terminology updates adopt THO approved URIs and required prefixes. Improve binding on GenomicsReport.code. New operations with more extensive guidance. Updates to all for repeat expansion representation. Reorganize several extensions to reuse base extensions and better align some extensions.

Vote: Accept the NIB as reviewed on the call

Mover/Seconder: Bob F / Patrick W

Discussion: none

For-Against-Abstain – 13-0-0

Motion passes


Helpful info

Vote template

Vote: <describe the motion here>

Mover/Seconder: <makes the motion/second:: Name1/Name 2>

Discussion: <ask for and document discussions>

For-Against-Abstain – <document vote: X-Y-Z>

Motion <passes/fails>

chat.fhir.org (zulip) comments


Future proposed agenda topics/requests 

  • WG members: please use this section to request topics to cover on our WG calls

https://confluence.hl7.org/display/CGW/Future+Topics+for+Weekly+Meetings Needs review/clean up

Jira for change requests

External efforts (updates welcome)

  • GenomeX/CodeX Accelerator (hosted through CodeX) (Arthur Hermann)
  • GA4GH (Global Alliance for Genomics and Health)
  • ClinGen/ClinVar (Larry Babb)
    • Data Exchange/Platform WG, major driver project of GA4GH GKS
    • will discuss further when Larry in on a call
  • ONC Sync for Genes (Bob Freimuth)
  • ISO TC/215 Genomics Subcommittee (Liz, Clem, Bob F)
    • Canada is sponsoring a phenopackets spec in ISO, will be based on the GA4GH spec that was approved fall 2019
      • The technical experts group just convened to work on this (mid Aug)
      • Since Phenopackets is implementing the GA4GH VR spec, which we are attempting to keep aligned with the CG IM, this work will be of interest to the CG WG
    • Arthur to review for other standards that might overlap with CG
    • Bob M / Bob F: Liaison through HL7
    • Cannot share documents, but we can talk about them
  • mCODE (May Terry)
    • mCODE STU3 passed ballot approval. Currently in reconciliation with publication ETA in Sept 2023.

WG projects and outreach

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