Stream: genomics
Topic: Observation-genetics vs Variant
Armando De Chiara (May 12 2020 at 10:47):
Hi,
i'm a beginner in FHIR and i'm still trying to understand the specification.
Right now i'm trying to figure out the best way to save genetic variants using the Observation-genetics profile linked to the Sequence.variant field as shown in https://www.hl7.org/fhir/observation-genetic.html. But in Genomics Implementation Guide at http://hl7.org/fhir/uv/genomics-reporting/sequencing.html variants are reported using a Variant profile linked to a Genomic Finding Observation. From what i understand both profiles can be used to save genetics variants, but i can't quite understand which one to use.
My question is: which one of the two profiles should i follow as base model to build my solution? Why should i use one instead of another?
I'm sorry for my lack of knowledge, and i hope some of you could try to explain to me.
Thank you and kind regards.
Patrick Werner (May 12 2020 at 10:56):
Hi Armando, the profiles in FHIR core a outdated and deprecated. Please use Variant and our IG:
http://hl7.org/fhir/uv/genomics-reporting/index.html
Armando De Chiara (May 12 2020 at 12:13):
Well, that was easy. Thank you!
Last updated: Apr 12 2022 at 19:14 UTC
