Stream: genomics
Topic: TMB AnswerList
Patrick Werner (Apr 21 2021 at 13:24):
Hi everyone,
i just looked at our TMB profile: http://build.fhir.org/ig/HL7/genomics-reporting/StructureDefinition-tmb.html
Patrick Werner (Apr 21 2021 at 13:26):
Our AnswerList contains High and Low, but many labs also reporting medium levels. source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6510391/
Patrick Werner (Apr 21 2021 at 13:26):
I will create an Jira Issue for this.
Kevin Power (Apr 21 2021 at 13:27):
Could be a ballot comment instead?
Patrick Werner (Apr 21 2021 at 13:28):
sure.
Bob Dolin (Apr 22 2021 at 20:01):
@Patrick Werner I'm wondering if the profile needs to be a bit more precise regarding method, in particular what types of mutations are being counted? For instance:
- Article you cite: counts non-synonymous somatic mutations (SNVs and small indels)
- FoundationOne [https://info.foundationmedicine.com/hubfs/FMI%20Labels/FoundationOne_CDx_Label_Technical_Info.pdf]: counts synonymous and non-synonymous somatic variants
- Caris [https://www.carislifesciences.com/molecular-profiling-technology/] - counts non-synonymous somatic mutations
- Tempus [https://www.tempus.com/wp-content/uploads/2019/06/Sample-Report_Anil_190521.pdf] - counts non-synonymous somatic SNVs
- LOINC [https://loinc.org/94076-7/] - counts non-synonymouse +/- synonymous somatic mutations
Patrick Werner (Apr 22 2021 at 20:24):
this would go into the the method part of the observation. But it is a good idea to have some loose binding to your methods list.
Patrick Werner (Apr 22 2021 at 20:24):
will add this to a ballot comment as well
Last updated: Apr 12 2022 at 19:14 UTC
