CG WG Call Notes leading to 2012 January WGM

Back to Agendas and Minutes.

January 10, 2011

Agenda

• Clinical Sequencing
• Family Health History Release II Project Scope statement

January 3, 2011

Agenda

• CDA Genetic Test Result

December 27, 2011

Agenda

• V2 IG Extensions

December 20, 2011

Agenda

• Family Health History Release 2
• GTR issues:
  • Vote on the reconciled ballot spreadsheet of Freida Hall
  • Continue discussion on the outline comparison table

December 13, 2011

Agenda

• Set up processes to engage University of Utah Biomedical Informatics student Brandon Welch to begin writing Family History implementation guide.
• Discuss NCI's offer to jointly develop the Domain Analysis Model
• HL7 Vocabulary Facilitator
• GTR issues:
  • Vote on the reconciled ballot spreadsheet of Freida Hall
  • Continue discussion on the outline comparison table

Attendees

• Grant Wood
• Amnon Shabo
• Scott Bolte
• Joyce Hernandez
• Mollie Currie-Ullman
• Mukesh Sharma
• Michael Miller
• Lynn Bry
• Don Rule
• Kosta Makrodimitri

Minutes

• Discussed ways for Brandon Welch to contribute to the development of implementation guidance to the Family History R2 spec
  • Mollie suggested help on use cases and required data and vocabularies
  • Amnon reiterated the difference between "Implementation Guide" and implementation guidance. In HL7, the former is typically a set of constraints over a more generic standard while the latter is simply guidance on how to implement a standard
  • Grant emphasized the need to have the new guidance comprehendible to implementers
• Discussed the motion to invite Juli Klemm of the NCI to present the idea of joint development of the LS/omics DAM by groups in NCI and HL7 and possibly in other organizations (e.g., CDISC); motion passed unanimously
  • Also decided to have an email exchange to prep the call
• Discussed agenda for San Antonio WGM:
  • not enough time left to organize another mini-symposium on clinical sequencing
  • explore options for joint meetings to present the group efforts
• Amnon mentioned that Yan Heras agreed to help out with the new HL7 Vocabulary spec and we should schedule a call where Yan will join and present the principles of the new specs and how our standards can align with these specs

December 6, 2011

Agenda

• Presentation on Green CDA for GTR by Rober Worden
• Continue discussion on the development of the Clinical Genomics Domain Analysis Model (DAM)
• Vocabulary facilitator
• Other GTR issues:
  • Vote on the reconciled ballot spreadsheet of Freida Hall
  • Continue discussion on the outline comparison table

November 29, 2011

Agenda

• V2 IG Extensions

November 22, 2011

Agenda

• Clinical Sequencing
• If time permits, finalize the ballot reconciliation of Freida Hall's ballot spreadsheet (discussed in previous calls) and decide whether to submit GTR "for comments" to the coming ballot cycle (January 2012)
• The San Antonio WGM Agenda is due on November 28

November 15, 2011

Agenda

• Family Health History (Pedigree Release 2)

Attendees

• Grant Wood
• Amnon Shabo
• Scott Bolte
• Joyce Hernandez
• Mollie Currie-Ullman
• Mukesh Sharma

Minutes

• Discussed a draft of a project scope statement for the next release of family health history

November 8, 2011

Agenda

Main topic: CDA Genetic Testing Report (GTR)

• The GTR home page is now available at[1]

• Reconcile ballot spreadsheet of Freida Hall
  • Reconciling the comment on genomic source class where we write (page 90): "The GenomicSourceClass template represents the genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome (e.g. DNA from tumor cells), and prenatal for fetal genome" and the comment is to remove "prenatal for"
  • Voting on all comments (spreadsheet is available through the GTR home page and is edited based on the discussion we had in the previous GTR call)

• Reconcile Mollie's ballot comment
  • Discuss a comparison table of GTR section titles and report format recommendations found in the literature (see at the bottom of the GTR home page)

November 1, 2011

Agenda

• V2 IG Extensions

Attendees

• Grant Wood
• Amnon Shabo
• Scott Bolte
• Joyce Hernandez
• Mollie Currie-Ullman
• Mukesh Sharma
• Lynn Bry
• Usha Reddy
• Guilberto F.

Minutes

• Current implementations of the HL7 V2 genetic variation model are at Partners Healthcare, Intermountain Health, and ARUP laboratories. They are used with both probe-based and sequencing tests with a relatively small number of variants
• Dana Farmer has extended the spec for Tumor Profiling wherein they report on 41 genes and ~400 variations
• Dana Farber has been working in collaboration with Memorial Sloan Kettering and others to receive feedback on tumor profiling
• The medical portion of test results uses SNOMED terminology and Hugo Gene Nomenclature Committee (HGNC) Naming
• Scott attended the AMIA Clinical Genomics Working Group session and shared information about the HL7 Work. In general AMIA are more focused on education than standards creation and don’t have the infrastructure (e.g. the ability for companies to collaborate pre-competitively) that HL7 has. Generally AMIA is more focused on genomics and less on clinical applications.
• We spoke briefly about the next working group session in San Antonio and it was suggested that we should be sure to hear from implementers to inform work on the standards for Next Generation Sequencing. Potential sources are ARUP, Washington University, Emory, M.D. Anderson, and Illumina. Generally focusing on CLIA labs that are performing sequencing would find the right knowledgebase.
• Mollie reviewed updates to the V2 implementation guide and will be distributing a summary in presentation form to those that are interested

October 25, 2011

Agenda

• Family Health History Release 2

October 18, 2011

Agenda

• Clinical Sequencing

October 11, 2011

Agenda

• CDA Genetic Test Result

October 4, 2011

Agenda

• V2 IG Extensions

September 27, 2011

Agenda

• Family Health History Release 2

Attendees

• Amnon Shabo (IBM)
• Scott Bolte (GE Healthcare)
• Daryl Thomas (Life Technologies)
• Mukesh Sharma (WUSTL)
• Don Rule (Translational Software)
• Lynn Bry (BWH & CAP)
• Grant Wood (Intermountain)

Draft Minutes

• Mollie sent via email a draft of the Project Scope Statement for Release 2. The PSS form will continue to be filled out and completed via email. A deadline to submit the form has not been determined.
• Amnon asked that CG consider naming the guide document an 'Implementation Guidance", as the document will not be constraining a model, but will be the model.
• Amnon asked that CG consider "elaborating" the FHH dynamic model, and harmonizing FHH and Clinical Statement.
• While reviewing ISO comments, the list of items in scope for release 2 began with -
  • Expanding the storyboard to include representative diseases for different disease categories,
  • Expanding the storyboard to include differences of FHH workflow in different countries (if diffrences can be identified),
  • The StatusCode not identify one proband, but modify the model so that any person can be viewed by the application as the proband, allowing for multiple risk analysis be assigned to multiple people in the pedigree, and multiple genetic test results be assigned to multiple people in the pedigree - and both allow for an unborn child to be a person,
  • Maybe require EstimatedYearofBirth be used rather than EstimatedAge for disease onset of a living person,
  • Include security information -
    • pointers to laws of different countries for privacy, security, and consent,
    • pointers to HL7 or IHE consent models.

Actions

• No motions offered or votes taken
• Amnon will "drive" the work of CDA GTR between the monthly calls.
• Daryl will "drive" the work of Sequencing between the monthly calls.
• Mollie will "drive" the work of V2 IG Extensions between the monthly calls.
• Grant will "drive" the work of Family History between the monthly calls.

September 20, 2011

Agenda

• Clinical Sequencing