Stream: genomics
Topic: MSI & TMB profiles ready
Patrick Werner (May 04 2020 at 16:05):
http://build.fhir.org/ig/HL7/genomics-reporting/branches/master/msi.html
http://build.fhir.org/ig/HL7/genomics-reporting/branches/master/tmb.html
Any feedback welcome
Bret H (May 05 2020 at 12:30):
I think it would be helpful to have a brief statement on each profile in the Structural Def page that defines the acronym and states briefly what the profile is for (like 1 to 2 sentences, 4 or 5 max sentences). "TMB - Tumor Mutational Burden, a measure of the amount of mutations in a tumor relative to non-tumor tissue in the same pateint. This profile is intended to deliver the result of a calculation of tumor mutational burden. Typically quantities are expressed in mutations per megabase. The interpretation field is particularly important as test ranges vary."
Bret H (May 05 2020 at 12:34):
for the UCUM code for TMB, parts per million ppm [ppm] [PPM] is the code you choose, right?
Bret H (May 05 2020 at 12:35):
nice work btw!
Bret H (May 05 2020 at 12:42):
"MSI - Microsatellite instability is a measure of changes in the number of copies of specific DNA repeat regions in a tumor relative to non-tumor tissue from the same patient. A high level can indicate that the tumor's DNA repair enzymes are mutated. The measure is used to aid diagnosis and treatment decisions. In the LOINC answer list, LL3994-2, MSI-L is low and MSI-H is high instability."
Patrick Werner (May 05 2020 at 12:48):
I agree on the guidance. Wanted to get the structures ready first.
Patrick Werner (May 05 2020 at 12:48):
And yes the unit should be correct: Mutations/Megabase
Last updated: Apr 12 2022 at 19:14 UTC
