Talk:GenomicVariantObservation FHIR Profile Proposal
Understanding the current manifestation of CGs model
While I appreciate the position that it is important to get the existing CG structures into FHIR before others propose structures that do not coincide with the existing v2 and v3 models, I think it is prudent to err on the side of caution, in that, if the current CG structure is truly the "correct" standard and if we get several adopters to make claims and provide evidence that the current standards are providing short term and potential long term value, then these structures should naturally rise to the top as worthy of broad "normative' acceptance.
By simply, converting the v2 IG and CDA GTR and v3 standards, we are assuming that these are appropriate standards of which the Clinical Genetics community is supportive. There is reasonable concern on my part that these standards evolved primarily from analysis and an extremely limited pilot project back in the 2005 timeframe. There have been an incredible amount of developments, grants, community collaborations within various domains of CG that would be worthwhile looking at to re-inform the CG model so that it could potentially reset the standard with a much firmer foundation, so that this quickly emerging field can rally around the HL7 standard and the potential that it has to transform healthcare in this field in particular.
Please let's have the discussion at the very least, so that we do the right thing for the community and the mission that HL7 is intended for.
My 2 cents.
A small example as of the writing of this entry. The CG WG conceptually refers to the individual observation of genomic data in a case as GeneticObservation. This particular profile would be a subset of that (potentially) or may be better represented in a different form altogether. By looking at the high level resources first and leveraging recent understandings of this dynamic field will help provide proposed resources that can provide others in this field to provide extensions and innovations without the baggage and restrictions that exist in the current manifestation.
