Stream: implementers
Topic: Genetic Sequencing Results - Mutations
Joshua Bell (Oct 09 2017 at 20:24):
I'm trying to figure out the best place to save genetic mutations in FHIR. Right now I'm thinking of putting it in an Observation that is linked from a Sequence.variant field. And have an observation made for each genetic mutation that I have for said patient/case. Is this the proper place to store this information?
The other place I had it which I believe to be wrong was in an Observation's components. Each mutation was a component, but that seemed like a weird broad location that wasn't specific to this case.
TL;DR: Where do I save genetic mutations?
Bob Milius (Oct 09 2017 at 22:30):
Depends on context.
Take a look at the Genomics Implementation Guidanceace at http://hl7.org/fhir/genomics.html and the Observation-genetics profile at http://hl7.org/fhir/observation-genetic.html. Let the Clinical Genomics work group know whether or not if you find them useful. @Gil Alterovitz @Kevin Power
Lloyd McKenzie (Oct 10 2017 at 03:46):
In general, each mutation can stand alone, so each should be a separate observation. However, the properties of the mutation might be expressed through Observation.component.
Last updated: Apr 12 2022 at 19:14 UTC
