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==Agenda== | ==Agenda== | ||
* V2 IG Extensions | * 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= | =October 25, 2011= | ||
==Agenda== | ==Agenda== | ||
Revision as of 07:40, 3 November 2011
Back to Agendas and Minutes.
Contents
- 1 January 10, 2011
- 2 January 3, 2011
- 3 December 27, 2011
- 4 December 20, 2011
- 5 December 13, 2011
- 6 December 6, 2011
- 7 November 29, 2011
- 8 November 22, 2011
- 9 November 15, 2011
- 10 November 8, 2011
- 11 November 1, 2011
- 12 October 25, 2011
- 13 October 18, 2011
- 14 October 11, 2011
- 15 October 4, 2011
- 16 September 27, 2011
- 17 September 20, 2011
January 10, 2011
Agenda
- Clinical Sequencing
January 3, 2011
Agenda
- CDA Genetic Test Result
December 27, 2011
Agenda
- V2 IG Extensions
December 20, 2011
Agenda
- Family Health History Release 2
December 13, 2011
Agenda
- Clinical Sequencing
December 6, 2011
Agenda
- CDA Genetic Test Result
November 29, 2011
Agenda
- V2 IG Extensions
November 22, 2011
Agenda
- Family Health History Release 2
November 15, 2011
Agenda
- Clinical Sequencing
November 8, 2011
Agenda
- CDA Genetic Test Result
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
