Discussion on PerformedGeneticObservationResult.mutationTypeCode

Return to BRIDG

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...

Return to BRIDG