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HL7 Clinical Genomics Weekly Call - 6 Oct 2020 11:00 AM (US Eastern)



Attendees Sign-in

Presiding Co-Chair (Kevin Power - Cerner -

  1. Bob Milius - NMDP/CIBMTR -
  2. Arthur Hermann - Kaiser Permanente -
  3. Kevin Roberg-Perez - Bioi -
  4. Anand Kulanthaivel - Clinical Architecture - 
  5. JD Nolen - Children’s Mercy Hospital -
  6. Jamie Jones - BCH - 
  7. Liz Amos - NLM - 
  8. Bob Dolin - Elimu Informatics - 
  9. May Terry - MITRE -
  10. Bob Freimuth - Mayo Clinic -
  11. Bret Heale - Intermountain - 
  12. Mullai Murugan - Baylor College of Medicine - 

Standing Informational Items

Agendas and Important Dates 

CG Call Date



Important Dates



WGM Review

R4B: JIRA (Dragon Warning)

R5: Genomics Guidance updates


Bob M

Oct 18 - “FHIR IG Proposals Due”




Nov 1 - NIB deadline for January cycle





Nov 15 - Initial Content Deadline


Bob M

Nov 17 - Connectathon Proposals Due




Dec 6 - Final Content Deadline




Bob M





Bob M





Connectathon Jan 13-15, 2021

Virtual WGM Jan 25-29, 2021

External efforts

Subgroup reports

WG projects and outreach

  • NMDP/CIBMTR hosting virtual Data Standards Symposium and Hackathon (DaSSH) - Thu morning will be focused on FHIR efforts.

Topic 0: Approval of Minutes from Last Meeting

Sep 15

Topic 1: WGM Minutes review

Co-Chair Elections:

Bob Milius

Jamie Jones

Mullai Murugan 

Topic 2: O&O JIRA for R4B updates 

Topic 3: Updates to background section of FHIR Genomics Guidance

Reminder, here is the current (R5) page: 


10:01:49     From Kevin Power :

10:21:38     From Bob Milius : We use the CG IG and MolecularSequence in our implementation. It works well and would be disappointed if it were deprecated.

10:22:12     From Bret H : it's been used in smartonfhir apps too

10:30:30     From Bret H : simplification through reducing named data elements will lead to a large reliance on terminology to provide contextual meaning of data. not a problem but a facet. think about both sending the data and querying the data. I prefer more specific operations for genomics to solve querying across variant representations. but this requires additional build over a base FHIR server. again a caveat not a barrier

10:32:56     From Bret H : using condition makes it hard to find unless everyone does it....

10:33:22     From Bret H : the old adage as long as we all do it wrong, we'll all be good 😁

10:36:19     From Bret H : @May, you've got some great input on biomarkers. sorry I could not attend the meeting.

10:39:16     From Bret H : thanks May for clarifying.

10:42:17     From Bret H : it's related to us core as well

10:43:01     From Bret H : but the elements used in mcode are asubset of the ig elements . you could support both mcode and our ig

10:47:26     From James Jones : Just logged, all are encouraged to comment there

10:48:13     From James Jones : re: biomarker guidance

10:50:25     From Bret H : does the mcode kb have a link? sounds interesting and a great strategy to encourage adoption of your ig.

10:54:17     From may terry :

11:02:16     From James Jones : Gotta drop, thanks all!

11:02:21     From Anand Kulanthaivel : I vote "Genes on FHIR".  It just has that ring to it.

11:02:55     From Kevin Roberg-Perez : Excellent ….  although in Dad joke zone

11:03:06     From Bret H : awesome

11:04:47     From Kevin Roberg-Perez : Bye all

Future Topics

Orders for genetic testing

  • How to define ServiceRequest.code
  • Multiple tests per report?

LOINC changes for Level of Evidence / Clinical Significance

Need to consider the following two new motions:

    • Motion A: Use 53037-8 for both germline and somatic variant clinical significance reporting, and add information to the Term description about the different guidelines for somatic and germline variants;  Keep the Answer list the same, but update the type from Preferred to Example

  • 1st/2nd -
  • Discussion -
  • Abstain/Nay/Yea -  / /
  • Result -

(Notes from Jamie:)

  • Want to separate clinical significance from level of evidence.
  • Motion B: Consider creating new codes for diagnostic, therapeutic, and prognostic significance (see Quest screenshot, LabCorp report) and/or type of evidence (see Baylor report)
    • 1st/2nd -
    • Discussion -
    • Abstain/Nay/Yea -  / /
    • Result - 
  • Need to create an example to understand the meaning of this change/concepts.
  • Need a caretaker for this topic.

Clinical Genomics Reference Docs

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