HL7 Clinical Genomics Weekly Call - Sept 26, 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 ( Kevin Power - CMH - kmpower@cmh.edu )
- Srikar chamala (USC/CHLA - schamala@chla.usc.edu)
- Patrick McCormick - IMO pmccormick@imohealth.com
- Bob Freimuth - Mayo Clinic - freimuth.robert@mayo.edu
- Soyean Kim CIDGOH SFU ska8@sfu.ca
- Joel Schneider - NMDP/CIBMTR - jschneid@nmdp.org
- Aly Khalifa - Mayo Clinic - khalifa.aly@mayo.ed
- Willie Chang - Epic - willie@epic.com
- Raja Kathirvel - Philips - raja.kathirvel@philips.com
- Lloyd McKenzie - Dogwood - lloyd@lmckenzie.com
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) | |
10-Oct-23 | Kevin | Review Connectathon Proposals and ideas | |
17-Oct-23 | Review of pathogen genomics (Soyean) | ||
24-Oct-23 | |||
31-Oct-23 | |||
7-Nov-23 | Kevin | Nov 12 - NIB deadline | |
14-Nov-23 | November 17 - 2024JAN FHIR Connectathon Proposals Due | ||
21-Nov-23 | Kevin | ||
28-Nov-23 | |||
5-Dec-23 | Kevin | Dec 5 - Content freeze (STU3 IG) | |
12-Dec-23 | |||
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
- Information Modeling (IM) (Bob F)
- Minutes:
- HL7 CG Information Modeling - Minutes for Oct 2019 to Jan 2020+
- Several weeks off .. will bring back more discussion next time
- FHIR (Jamie)
- Minutes:
- OO Work (JD)
- Requested Change to MolSeq
- None
- IG Maturity (Bret H)
- https://chat.fhir.org/#narrow/stream/179197-genomics/topic/Maturity.20group
- First meeting held, updating proposed plan. Next step is review within subgroup and finalize. Then there will be a request to present to WG.
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"
- Corrections: None
- Result: minutes are approved
Topic 1: WGM review / minutes approval
https://confluence.hl7.org/display/CGW/2023-09+CG+WGM+Minutes
This is to approve minutes via general consent. "You have received the minutes. Are there any corrections to the minutes? (pause) Hearing none, if there are no objections, the minutes are approved as printed."
Approved.
Topic 2: Review somatic guidance updates
Review draft of ‘somatic guidance’ (Srikar)
Building example report with supporting spreadsheet with additional details. Working diagrams and draft of guidance page as well. Hope that by the end of the week have something more specific to review.
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
- Genomics
- If you would like to bring up a topic for discussion, Zulip is the platform and the stream is genomics - https://chat.fhir.org/#narrow/stream/179197-genomics
Future proposed agenda topics/requests
- WG members: please use this section to request topics to cover on our WG calls
- Needs review/clean up
Jira for change requests
- If you like to open a ticket, Jira is the platform - https://jira.hl7.org/secure/Dashboard.jspa?selectPageId=12002
External efforts (updates welcome)
- GenomeX/CodeX Accelerator (hosted through CodeX) (Arthur Hermann)
- Arthur to provide updates as needed https://confluence.hl7.org/display/COD/Genomics
- GA4GH (Global Alliance for Genomics and Health)
- Genomic Knowledge Standards (GKS) Work Stream (leads: Bob Freimuth, Andy Yates)
- Variant Representation subgroup (lead by Larry Babb/Alex Wagner)
- See ongoing project board at https://github.com/orgs/ga4gh/projects/5
- VRS 1.3 (structural variation) anticipated by Dec 2021
- Variant Annotation subgroup (lead by Matt Brush and Javi Lopez)
- Working on statements about therapeutic interventions and variant pathogenicity
- https://docs.google.com/spreadsheets/d/1zQU-Yv7gB7IHKIOVsTh-74BwdtgB9KQpKcWkSHZOa-Q/edit
- V0 release: 4 core substatement types + generalized model
- Due "soon"
- Sequence Annotation subgroup (lead by Karen Eilbeck and Shawn Rynearson)
- Clinical & Phenotypic Data Capture Work Stream
- Pedigree Activity (Grant Wood)
- help GA4GH community to understand HL7 Pedigree standards
- https://docs.google.com/spreadsheets/d/1AxRufaSICADO_f9CAhbkVh5dChT4FjHZgvGFFdC-2WI/edit
- Phenopackets
- Under continuous development
- Currently going through the ISO
- G2MC (Grant Wood)
- Looking to develop AI tool for literature review for poly-genetic risk, generate guidance
- Create KB on G2MC website
- 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)
- ONC website: https://www.healthit.gov/topic/sync-genes
- Phase 5 briefing from Bob Dolin here.
- 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.