Chair: Kevin Power
HL7 Clinical Genomics Weekly Call - Nov 14, 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
Attendees Sign-in
Presiding Co-Chair (Kevin Power - CMH - kmpower@cmh.edu)
- Thomas Debertshäuser - Charite Berlin - thomas.debertshaeuser@charite.de
- Arthur Hermann
- Omar Khan - NHS England - omar.khan2@nhs.net
- Patrick McCormick - IMO - pmccormick@imohealth.com
- Joel Schneider - CIBMTR/NMDP - jschneid@nmdp.org
- Michael Watkins - UChicago - michaelwatkins@bsd.uchicago.edu
- Raja Kathirvel - Philips - raja.kathirvel@philips.com
- Willie Chang - Epic - willie@epic.com (:12-)
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 | Patrick | ||
31-Oct-23 | Kevin | Review and vote on NIB (Kevin) Quick update on the FMH genetics profile (Kevin/Shahim) | |
7-Nov-23 | Kevin | Block vote Somatic guidance updates (Srikar) Connectathon Track Proposal Review | Nov 12 - NIB deadline |
14-Nov-23 | Kevin | Finalize and approve connectathon proposal Review schedule options for WGM Review pending trackers | November 17 - 2024JAN FHIR Connectathon Proposals Due |
21-Nov-23 | Patrick | ||
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 | May | WGM Agenda | |
16-Jan-24 | HL7 FHIR Connectathon Jan 16, 2024 to Jan 18, 2024 - Online/Virtual | ||
23-Jan-24 | FHIR Connectathon report-out | ||
January Working Group Meeting Jan 29, 2024 to Feb 2, 2024 - Virtual Event | |||
Subgroup reports
- Information Modeling (IM) (Bob F)
- FHIR (Jamie)
- OO Work (JD)
- https://jira.hl7.org/browse/FHIR-22147 - Should a reference to device be added as a performer for both Observation and DiagnosticReport
- More chatter on the above: https://confluence.hl7.org/display/OO/2023-10-16+OO+-+Specimen
- https://jira.hl7.org/browse/FHIR-24863 Ok to reject?
- 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"
- Minutes are approved
Topic 1: Finalize and Approve Connectathon Proposal
Vote: Accept the above proposal, and recommend CG has a track in the January 2024 Connectathon
Mover/Seconder: Arthur H / JD Nolen
Discussion: None
For-Against-Abstain – 8-0-0
Motion passes
Topic 2: Review Virtual WGM schedule options
Really focused topics versus administrivia (3 straight quarters on a day on a topic) (hack-a-thon mind set)
Need to
Tuesday Week before: Intro to CG
Tuesday Week after: wrapup
Attendees:
Kevin
JD
Raja
Omar (maybe)
Michael (hopeful - Q3/Q4 would be better, Q5 might have some conflicts)
Thomas (maybe)
Arthur
Willie (maybe - Q4/Q5 would be best)
Topic 3: Pending trackers
To be applied:
https://jira.hl7.org/issues/?filter=12415
Still pending:
https://jira.hl7.org/issues/?filter=13629
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
https://confluence.hl7.org/display/CGW/Future+Topics+for+Weekly+Meetings 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.