HL7 Clinical Genomics Weekly Call - 4 Dec 2018 11:00 AM (US Eastern)

 

Minutes

http://tinyurl.com/HL7CGGroupCall

https://docs.google.com/document/d/12-uBrMmav71a3_c9h_FXQteJo_I5Kt72NEBYXZuwhFg/edit

 

Attending the meeting

Join the online meeting (VoIP available with this):

 

Agenda

Previous Minutes Approval

Agendas and Important Dates

External efforts

Subgroup reports

Topic 0: Ballot Sign Up

Topic 1: Jan 2019 WGM Agenda Planning

Topic 2: Non-ballot tracker items

Attendees Sign-in

(Presiding co-chair:  Bob Freimuth - Mayo Clinic - freimuth.robert@mayo.edu  )

  1. Patrick Werner - Molit Institute / Heilbronn University - patrick.werner@molit.eu
  2. Kevin Power - Cerner - kpower@cerner.com
  3. JD Nolen - Children’s Mercy Hospital - jlnolen@cmh.edu
  4. James Jones - BCH- james.jones.bch@gmail.com
  5. Ning Xie - BCH - ningxie2018@gmail.com
  6. Bob Dolin - Elimu Informatics - bdolin@elimu.io 
  7. Liz Amos - NLM - liz.amos@nih.gov
  8. Deepak Sharma- Mayo Clinic - sharma.deepak2@mayo.edu
  9. Andrea Pitkus - apitkus@gmail.com 
  10. Julian Sass - Berlin Institute of Health - julian.sass@bihealth.de
  11. Joel Schneider - NMDP/CIBMTR - jschneid@nmdp.org
  12. Jamie Parker - Carradora Health  -jamie.parker@carradora.com 
  13. Caterina Lasome - iON Informatics - cat@ioninformatics.com
  14. Bob Milius - NMDP/CIBMTR - bmilius@nmdp.org
  15. Jungang Zou - XMU -jungang.zou@gmail.com
  16. Alex Mankovich - Phillips - alex.mankovich@philips.com
  17. Bret Heale - Intermountain Healthcare - bheale@gmail.com 

Previous Minutes Approval

Agendas and Important Dates 

Date

Co-Chair

Agenda

Important Dates

9-Oct-18

 

No Meeting

 

16-Oct-18

Kevin P

WGM Review

2-to-FHIR PSS - vote

Committers channel on Zulip

NIB for IG - vote

Code Systems / Value Sets

 

23-Oct-18

Kevin P

FHIR IG Block Vote - vote

Committers channel on Zulip

Code Systems / Value Sets

 

30-Oct-18

Kevin P

Tracker 19453 - Rename Sequence -> MolecularSequence

Tracker 19440 - Update to ‘stu note’ on FHIR Core profiles and artifacts

Tracker 1900 - Relax cardinality for reference.windowStart/windowEnd

Previous FHIR Core Trackers with no or inadequate resolution documented

Code Systems / Value Sets (Discussion: Patrick/Julian)

 

Oct 31: All R4 STU comments reconciled in gForge with votes and no “tracker issues”

Oct 28: NIBs due - IG must be “feature complete” and building in HL7’s continuous integration environment.  If not, the NIB will be refused

6-Nov-18

Bob M

 

 

13-Nov-18

Bob M

 

Nov 18: IG Content deadline – only QA changes after this point

Nov 18: IG Ballot reconciliation spreadsheet due - two ballot items left to reconcile

20-Nov-18

Kevin P

Topic 0: Ballot Sign Up

Topic 1: May 2018 Ballot Reconciliation Complete

Topic 2: Non-ballot tracker items still remaining

 

Topic 3: Code Systems / Value Sets (Discussion: Patrick/Julian - Clem/Liz)

  Nov 23: Co-Chair Nominations Close at 5:00 pm Eastern (email nominations to NOMINATIONS@HL7.ORG)

27-Nov-18

Bob M

 

Dec. 2: IG Final freeze deadline

4-Dec-18

Bob F

Topic 0: Ballot Sign Up

Topic 1: Jan 2019 WGM Agenda Planning

Topic 2: Non-ballot tracker items

 

Dec 6 - Consensus pool signup closed

Dec 7 - Ballots opened

 

Dec 7: Co-Chair election statements due to HQ

11-Dec-18

Bob M

 

 Dec 14: Deadline to post your WGM agenda on the WGM information page (WG Health metric)

18-Dec-18

Kevin P

 

 

25-Dec-18

Holiday

meeting cancelled

 

1-Jan-19

Holiday

meeting cancelled

 

8-Jan-19

Bob M

 

Jan 7 - Ballots closed

2019 January Working Group Meeting

Health Level Seven International January 2019 Working Group Meeting, San Antonio, TX

  • Location: San Antonio, TX United States
  • Start Date: January 12, 2019
  • End Date: January 18, 2019
  • Early bird discounts end December 21!
  • GA4GH Genomic Knowledge Standards (GKS) (leads: Bob Freimuth, Andy Yates)


External efforts

Subgroup reports

Topic 0: Ballot Sign Up

Announcement of ballot openings for early January 2019 Ballot Cycle

Ballot Period Open/Close Dates

Voting for consensus group members in most ballots will open and close on the following dates. Exceptions for a specific ballot are listed with that ballot description.

 

Ballot Open Date: Friday, December 7, 2018

Ballot Close Date: Monday, January 7, 2019

 

Consensus Group

Enrollment Period Important Note:

Consensus group signup closes when ballot voting begins. Consensus group enrollment will be available from a date at least four weeks preceding the ballot vote opening date and will continue until the opening of voting. While the exact dates are dependent upon individual ballot open and close dates, in general the consensus group sign up period dates are as follows:

 

Consensus Group Sign-Up Open Date: Monday, November 5, 2018

Consensus Group Sign-Up Close Date: Thursday, December 6, 2018

Please be aware that these dates may not be accurate for all consensus groups.

 

To sign up, point your browser to

http://www.hl7.org/ctl.cfm?action=ballots.home

 

Important Note:

Consensus group signup will close when ballot voting begins. This is also the final date non-members can sign up for Non-Member Participation in the ballot.


Additional Information:
http://www.hl7.org/documentcenter/public_temp_87AEFCD4-1C23-BA17-0CEC7A7FE30214CE/ballots/2019JAN/Announcements/Formation%20of%20Consensus%20Groups%20for%202019%20January%20Ballot%20Cycle.pdf


CG FHIR ballot artifact is now available:  http://www.hl7.org/fhir/uv/genomics-reporting/2019Jan/index.html

Topic 1: Jan 2019 WGM Agenda Planning

 


Topic 2: Non-ballot tracker items

 

Tracker

16401

N/A

David Poloway

Summary

inconsistencies regarding ServiceRequest,

Links

http://build.fhir.org/ig/HL7/genomics-reporting/general.html

Resolution

Notes

Persuasive with mod (non-substantial) - change instances of “ServiceRequest” and “Order for genetic testing” with the profile name (“Request for Genetic Test”) to avoid unnecessary confusion

Details

ServiceRequest appears here. But the text is "Request for Genetic Test." It is better to make a unified and independent paragraph for the simple introduction of ServiceRequest with a reference link. “Orders for genetic testing“ refers to the same thing.

Follow-ups

 

 

 

 

Tracker

15891

N/A

Kevin Power

Summary

Sequence as a knowledge resource,

Links

N/A

Resolution

Notes

Not Persuasive:  Decided to not make MolecularSequence (PKA Sequence) 'Definitional' at this point.  See tracker:16501

Details

Review the elements of Sequence and decide what should migrate to Observation - and whether new elements should be added to support its use as a "knowledge" resource

Follow-ups

 

 

 

Kevin P left the meeting, total voting is now 15

 

Tracker

16397

N/A

David Poloway

Summary

Add more info regarding definitional sequence,

Links

http://build.fhir.org/ig/HL7/genomics-reporting/sequencing.html

Resolution

Notes

Not Persuasive:  Decided to not make MolecularSequence (PKA Sequence) 'Definitional' at this point.  See tracker:16501

Details

There should be more information about "Definitional Sequence"http://build.fhir.org/ig/HL7/genomics-reporting/sequence.html. It needs to be clearly introduced. Currently, it looks like a reference/link Object, and some fields overlap with Sequence

Follow-ups

 

 

 

Tracker

16403

 

 

Summary

Add examples from IG guidance/STU3,

Links

http://build.fhir.org/ig/HL7/genomics-reporting/general.html

Resolution

Notes

Duplicate of other trackers requesting examples already approved

16510 - Need more examples 15893 - Decide what examples to bring across from existing profiles and convert them

Details

Add in examples from IG guidance and STU3 to this version

Follow-ups

 

 

 

Tracker

16399

 

 

Summary

Add examples to 1.6.3,

Links

http://build.fhir.org/ig/HL7/genomics-reporting/somatics.html

Resolution

Notes

Duplicate of other trackers requesting examples already approved

16510 - Need more examples 15893 - Decide what examples to bring across from existing profiles and convert them

Details

1.6.3 Somatic-specific Example instances should be added

Follow-ups

 

 

 

Did not have time to address the rest of the scheduled issues


Tracker

16409

N/A

David Poloway

Summary

Link definitions to standard ontological terms,

Links

N/A

Resolution

Notes

Duplicate of 16513 - need glossary.

Details

Link definitions to standardized ontological terms (may be done via LOINC links to other ontologies)

Follow-ups

 

 

 

Tracker

16391

N/A

David Poloway

Summary

Add introduction and examples for Reporting,

Links

http://build.fhir.org/ig/HL7/genomics-reporting/general.html

Resolution

Notes

Not Persuasive: Already have a placeholder page to build out how to search:http://build.fhir.org/ig/HL7/genomics-reporting/domain.html

Details

Lots of reminders for "searching" in all Reports. May be better to make an introduction and examples for searchable functions in all kinds of Report.

Follow-ups

 

 

 

Tracker

16415

N/A

David Poloway

Summary

Add text to 1.3 sequenced variants Observation-genetics,

Links

http://build.fhir.org/ig/HL7/genomics-reporting/sequencing.html

Resolution

Notes

Not persuasive (non-substantial) - This IG design prefers components over extensions and should not reference the core profiles for this guidance

Details

Add text for Observation-genetics profile perhaps at the end of the section (new section):

 

The Observation-genetics profile Observation-genetics profile is used to interpret variants from sequence resource. Clinical usage may need more specific representation of variant at locus or structural variant in whole genome. Some of the attributes of the profile follow: The observation-genetics Sequence extension will refer to the Sequence resource for sequence information related to this variant. The observation-genetics Interpretation extension will refer to an Observation instance which contains clinical interpretations for the variant described. The code, effective[x], issued, performer, method, specimen elements can be used to describe how the genetic observation (variant and sequence data) is obtained. Other extensions are used to describe attributes of this variant such as Genomics Source Class, Amino Acid Change Type, etc. These are mappings from v2 and lonic code reference with details can be found in this list .

Follow-ups

 

 

 

https://gforge.hl7.org/gf/project/fhir/tracker/?action=TrackerItemEdit&tracker_item_id=16236&start=0

16236

Add background info on sequence

 

  

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