CG WG Call Notes leading to 2015 September WGM

June 9, 2015 -- Weekly call

Amnon Shabo (Shvo), Mollie Ullman-Cullere, Siew Lam, Larry Babb, Jonathan Holt, Jeremy Warner, Dan Rutz, Bob Milius, Jeffery Karp, Scott Bolte

Comments on the FHIR genetic Family Health History FHIR Profile
Decided to contact Lloyd and Grahame about issues in the current revision of the FHIR profile of genetic family history as explained by Jonathan Holt

Amnon Shabo (Shvo), Mollie Ullman-Cullere, Grant Wood, Larry Babb, Jonathan Holt, Bob Freimuth, Jeremy Warner, Dan Rutz, Bob Milius, Jeffery Karp, Gil Alterovitz, Travis Pittman

Dan Rutz introduced himself (representing Epic)
Grant described the genomics policy meeting in DC
The Global Alliance plenary meeting was mentioned
Not clear if and which FHIR version is going normative
- Later confirmed that there will be at least one more DSTU (DSTU 2.1) prior to normative balloting
Bob Freimuth:
- perhaps it's not possible to get to an overarching CG model covering all use cases
- focus on messaging specifications
Amnon:
- HL7 main mandate is about exchange of information
- however, the model of exchanged information impacts the internal representation of the data at the sending and receiving sides
- if the internal representations are very different than the exchanged representation, then it might make semantic interoperability much harder
- We have to work both bottom up (smaller-scale models for specific use cases) and top down (conceptual and broader modeling) so that we archive progress and learn lessons on the one hand, and still converge on the important principles to be kept in any CG model
- the DIM effort is currently about two narrower models - Clinical Genomics Statement (just one single gen-phen association) and family history
- the overarching models meet the concrete specifications by means of constraining, preferably using model-driven tools