Difference between revisions of "Discussion on PerformedGeneticObservationResult.mutationTypeCode"
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Revision as of 03:29, 3 December 2015
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Proposed New Definition and Examples for PerformedGeneticObservationResult.mutationTypeCode
Current Definition for PerformedGeneticObservationResult.mutationTypeCode
DEFINITION: A coded value specifying whether a genetic variation is inheritable.
EXAMPLE(S): GERMLINE, SOMATIC
OTHER NAME(S):
NOTE(S):
Comment
This should be linked to the LOINC answer list with these values, which are more complete. Proposed wording: “Coded value defining the genomic source of the variant, which can indicate the variant context including inherited germline mutations, acquired tumor specific mutations, mutations within a fetus, or unknown origin.”
Proposed Disposition
Persuasive
Proposed Disposition Comment
Need to make sure this is consistent with PGx SME's understanding and we're not de-supporting their use case - also need to get official LOINC reference info. Are inherited germline mutations, acquired tumor specific mutations, mutations within a fetus, and unknown origin a broader set of example values we should use?
Initial Discussion
Concern was raised that this attribute name may be a misnomer; need to check with PGx SMEs re what was intended with this concept and what is the CDISC use case for it; concern was also raised about example values possibly conflating ideas; acknowledged that some members of CG WG have spent lots of time on this topic and could contribute; might be worth taking a look at ClinGen model, etc. to see how other models represent this concept – need to ensure it’s a model that includes both concepts (germline and somatic) otherwise it might not even have the concept
Outstanding Question
PGx SMEs: Does the following definition support your use case? Are the following valid example values?
- DEFINITION: A coded value specifying the genomic source of the variant which can indicate the variant context.
- EXAMPLE(S): inherited germline mutations, acquired tumor specific mutations, mutations within a fetus, and unknown origin
Anyone: Are the original example values conflating ideas? What other models are there that include both germline and somatic mutations and how do they represent this idea?
Responses
Please add you responses here...
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