2023-09 CG WGM Minutes

• CG Overview

Getting Started with Clinical Genomics

The FMG is currently going through all of the profiles currently published as part of the FHIR core spec and trying to figure out what should happen to them.

- in many cases, the correct answer is for them to move into IGs where they can be more actively maintained and will hopefully be more discoverable

- in some cases, they should be dropped because no one's using them and they're not necessary

- in some cases they're candidates to proceed to normative and belong as part of the core spec

We're curious what the CG work group's thoughts are about the future of the https://build.fhir.org/familymemberhistory-genetic.html profile.

Where should we move our familymember profile & extensions to?

• Genomics IG
• Phenopacket IG? 
• PC or O&O?

→ easiest would be to move them to the genomics IG for now, could be moved to a FHIR based Pedigree IG in the future

FHIR-I

"ALMOST EVERYTHING WILL BE NORMATIVE IN R6"

Implementers are not accepting of breaking changes.

Survey coming out soon to determine when R6 ballots could come out. In the meantime, will have interim ballots. Too much to review for a single ballot.

Earliest is Jan 2025.

Not the 'final' release, just follow all rules for non-breaking changes.

FMG Questions:

• Question 1: are there any resources you're responsible for you think *shouldn't* be normative in R6, and if so, why?
  All our core resources aren't ready for beeing normative: FHIR-I will reach out to us to discuss this topic in detail.
• Question 2 : Which resources or pages do you plan to ballot in the Jan 2024 cycle?
  • none
  • can ballot core Resources in May & Sept
• Question 3: Any questions around extensions?
  
  • -
• Question 4: Any questions/issues around Jira management or expectations?
  • -
• Question 5: What new IGs and/or new IG ballots are you expecting in the next year?
  • STU3
  • Phenopackets, which we only will participate in
• Question 6: Thoughts on IG alignment across IGs and what, if anything, we can/should do to foster that?
• Family Member History:
  • should be removed from core, will contact PC about the new home

STU3 Planning

• Ballot prep
• JIRA review

PGX (Walter)

• use case
• reporting diplotypes (terminologies?)
• reporting implications (coded meds?)

use-cases: 

• lab reports just the variants in the pharmacogenes of interest
• mapping to star alleles is done by the receiving side
• use-case needs some kind of phasing information
• guidance from variant reporting applies

• star allele diplotypes
• we should create warnings for CodeableConcepts without codings

ImplementationGuide Testing

• how do we test? how do implementers know if problems are theirs or the IG or something else?
• do we have any plans or interest in developing a set of test scripts?

With the universal IG, and the great flexibility of the IG, developing test scripts. Could be easier with 'sub-IGs' where the rules are more clearly defined.

Could use Touchstone or Inferno for building tests.

Connectathon?

Jan 2024 (Virtual)

Agreement within the group to have Connectathon track in Jan 2024

GenomeX will be having a track, Bob F/Aly might have something for IM, Bob D might have something for Operations. Will be working on defining something in the near future.

Discuss FMH-genetics profile

W/Shahim

CIC is the sponsor of "Phenomics Exchange" - sending a packet of phenotypic data. Describe higher level features from the clinical data mapped to HPO codes.

"Patient Anatomical Characteristics" work from O&O

Discussion about Pedigree:
remove FamiliyMemberHistory Profile & Extensions from FHIR core, find a new home:

Genomics IG // Phenomics IG // a new Pedigree IG and/or core resource

good practice: GedCom Tool: https://www.gedcom.org/ 

STU3/JIRAs

STU3/JIRAs

FHIR-38718 - Getting issue details... STATUS *rejected (.issued is already in R4)

IM review (1)

Presenting overview of the work in IM (working on R5+)

Presentation: HL7 CG WGM - IM-based FHIR overview 230913.pdf

IM review (2)

Continue presentation and discussion from Q1

Joint with Orders and Observations

RiskAssessment & DiagnosticReport linkage

DR.conclusion could become a CodeableReference vs DR.result or new element/Extension on DR.

Discussion: Should RiskAssessment & Clinical Impression be allowed to be linked from DR.

"Patient Anatomical Characteristics" Profile & Phenopackage

<Flex> - open time to extend conversations from earlier

Connectathon planning

Business topics - wrap ups, assign todos, review WGM minutes

Walk on topic (Nephi W): How can we build an ecosystem where genomic data is available at point of care? What infrastructure is needed?

Difference between PACS and analog for genomics: PACS is simple send/retrieve, whereas genomics will require processing and indexing into a result set (e.g., whole genome) to extract specific values

Heterogeneity in VCF format makes it hard to share data using a widely-used format