Closed arpaddanos closed 2 years ago
Marilyn Li notes that common practice is to use somatic evidence in the interpretation of a germline variant, and vice-versa.
The group discussed the need for citing use of specific resources in a standard. Agreed that there is a need for a specific workflow in standards, but that evolving practice changes what those workflows look like. Thus, we need to arrive at a solution that provides both specificity and flexibility for evolving practices.
We reviewed proposed oncogenicity codes, discussed specific examples, worked through some of the challenges to the idea that implementing somatic interpretation codes could be done by a relatively minor update to the ACMG codes and could mimic the spirit of ACMG guidelines almost exactly. Some points of debate:
Proposal to use two genes, TP53 and PTEN as a proof-of-principle experiment for a combined germline and somatic variant interpretation guideline scheme that is based on the ACMG germline guidelines but incorporates fundamental somatic evidence concepts.
ASHG poster PostV1.pdf summarizes the main ideas from this session as well as a model for how CIViC can adapt oncogenicity codes utilizing the proposed new Biological Evidence Item as well as Biological Assertion based on Oncogenicity Codes.
Selected for morning session lead by Arpad and Dmitry. Proposal to build support for somatic evidence into the ACMG evidence codes.