Request for changing "Interpretation" to "Classification"

[larrybabb]

ClinGen and the experts that work on improving the ACMG Var Path guidelines have been considering a change to improve and clarify the term used between patient centric observations and variant centric observations. They have been discussing this with ClinVar as well. The concern is that the term "interpretation" can convey confusion when used on patient reports in that they appear to indicate an interpretation for the patient. Since the ACMG Var Path Interpretation knowledge is patient agnostic it is more of a "classification".

Here's the request from Heidi Rehm: “In case I forget to mention, we decided that we would use the word “Classification” as the term for Variant Classification and “Interpretation” for the Report/Case Interpretation. Can SEPIO adopt that?”

I recognize that ClinGen can make this change in their profile, but I thought it might be helpful to apply this to the forthcoming VA var path model as a default since it is coming from the very authorities that are standardizing the assertion type.

Let me know if this is reasonable and feasible.

[mbrush]

At present, out names for 6 of the 8 of the prioritized VA Statement types end in "Statement":

• Molecular Consequence Statement
• Relative Location Statement
• Computational Functional Impact Statement
• Population Frequency Statement
• Variant Pathogenicity Interpretation
• Therapeutic Response Interpretation
• Aggregate RCV Clinical Significance Statement
• Aggregate VCV Clinical Significance Statement

I would suggest changing the name of Var Path and Therapeutic Response types to "Variant Pathogenicity Statement" and "Therapeutic Response Statement", respectively.

In discussions, we can refer to these as VP "classifications", but maybe try to avoid referring to them as "interpretations".

(Side note for Larry - we can separately revisist the name for this class in the SEPIO-ClinGen ontology extension - where it might make sense to name them "Variant Pathogenicity Classifications" if this is what the ClinGen community wants to call them)

[larrybabb]

I'm fine with that plan. In the end, the domain experts simply wanted to express in which context it was appropriate to use "classification" versus "interpretation". The variant-centric knowledge statements or assertions fall more on the side of "classifications" whereas the patient-centric assessment of evidence is more closely aligned the the term "interpretation". ClinGen/ClinVar plans/aims to make this more consistent and clear and the hope is that the VA standards will align with that. If there are concerns with that use of terminology I'm sure the domain experts would like to be informed by those concerns.

Otherwise we can consider this issue closed.