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 )
- Omar Khan - NHS England - omar.khan2@nhs.net
- Bob Dolin - Elimu - bdolin@elimu.io
- Srikar Chamala - schamala@chla.usc.edu
- Michael Watkins - UChicago - michaelwatkins@bsd.uchicago.edu
- Willie Chang - Epic - willie@epic.com
- Thomas Debertshäuser -BIH @ Charité Berlin - thomas.debertshaeuser@charite.de
- Joel Schneider - NMDP/CIBMTR - jschneid@nmdp.org
- Raja Kathirvel - Philips - raja.kathirvel@philips.com
- 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
- 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:
- FHIR SubGroup Meetings Doc
- tinyurl.com/fhirgenomics
- Review of biomarker proposal
- 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: GenomicStudy backport R4
- Patrick Werner: Link to GenomicStudy resource in R5 should be added
- Bob D: https://build.fhir.org/ig/HL7/genomics-reporting/branches/pw-genomic-study-backport/ValueSet-genomic-study-type-vs.html should be aligned with the NHS list, SnomedCT, etc in the future
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:
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
- 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.