HL7 Clinical Genomics Weekly Call - Oct 24, 2023 11:00 AM (US Eastern)

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Minutes


Attending the meeting

https://us02web.zoom.us/j/2980068716?pwd=eG9VOXdjTU43VGpJVGNNNGtqbW1qQT09 

Meeting ID: 298 006 8716 // Passcode: 2020

Agenda

Attendees Sign-in

Presiding Co-Chair (Patrick Werner - MOLIT Institut - pw@molit.eu

  1. Omar Khan - NHS England - omar.khan2@nhs.net  
  2. Bob Dolin - Elimu - bdolin@elimu.io 
  3. Srikar Chamala - schamala@chla.usc.edu
  4. Michael Watkins - UChicago - michaelwatkins@bsd.uchicago.edu
  5. Willie Chang - Epic - willie@epic.com 
  6. Thomas Debertshäuser -BIH @ Charité Berlin - thomas.debertshaeuser@charite.de
  7. Joel Schneider - NMDP/CIBMTR - jschneid@nmdp.org
  8. Raja Kathirvel - Philips - raja.kathirvel@philips.com
  9. Aly Khalifa - Mayo Clinic - khalifa.aly@mayo.edu 

Agendas and Important Dates 

https://confluence.hl7.org/display/HL7/2024+January+Cycle 

CG Call Date

Co-Chair

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

Important Dates

26-Sep-23

Kevin 

Review and approve WGM minutes (Kevin)

Review draft of ‘somatic guidance’ (Srikar)


3-Oct-23

Patrick

Block Vote (Kevin)

Review draft of ‘somatic guidance’ (Srikar)


10-Oct-23

Kevin

Review Connectathon Proposals and ideas


17-Oct-23

Patrick

Review of pathogen genomics (Soyean)

Update on current connectathon proposal


24-Oct-23




31-Oct-23

May

Review and vote on NIB (Kevin)


7-Nov-23

Kevin

Connectathon Track Proposal Review

Nov 12 - NIB deadline

14-Nov-23



November 17 - 2024JAN FHIR Connectathon Proposals Due

21-Nov-23

Kevin



28-Nov-23

May



5-Dec-23

Kevin


Dec 5 - Content freeze (STU3 IG)

12-Dec-23

May



19-Dec-23

Kevin


Dec 19 - Content QA complete

26-Dec-23



Dec 22 - Ballot opens

2-Jan-24




9-Jan-24




16-Jan-24


HL7 FHIR Connectathon

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


23-Jan-24





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 1: GenomicStudy backport R4

https://build.fhir.org/ig/HL7/genomics-reporting/branches/pw-genomic-study-backport/StructureDefinition-genomic-study.html

Topic 2: Somatic Reporting Update (Srikar)

https://build.fhir.org/ig/HL7/genomics-reporting/branches/somaticExample/somatics.html

ExampleBundle was created, variants, implications are done, biomarker & metadata is missing. Srikar startet the textual guidance.

The “synthetic” example report was created from parts of several reports.

Volunteers are welcome! Ask Srikar or Bob D for the raw documents.

https://github.com/HL7/genomics-reporting/compare/master...somaticExample 

Patrick will check if R4 backport branch contains all commits regarding the backport (against the somatic branch)

Topic 3: Connectathon Track


Draft of Connectathon: 

https://docs.google.com/document/d/1A4Uf5wcIr1OvOc62m3guvMjZZKtPo6tr4a_xILjTwYg/edit#heading=h.sw7c803rr3xf

Current status of the document is inconsistent by mistake, and will be fixed soon.

  • Bob D & May met to discuss the track proposal
  • Track proposal is due in 2 weeks
  • BobD: track for creating GenomicStudies (backport R4 & R5) and consume them to pull link from VCF file, and load the VCF to the GACS
    • Participants will create GenomicStudy Instances & VCF Files to be processed by the operation implementers
    • Potential use-case: combine GenomicReports & VCF Files, explore Operations vs REST-Search
    • Explore where the VCF file is attached (GenomicStudy vs. Observation.extension)
    • R5: GenomicStudy only (&VCF file) as our IG is currently R4 only



CHAT:



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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