Loading...

XML

Word

Printable

JSON

Specification:

Genomics Reporting (FHIR)
Work Group:

Clinical Genomics
Related URL:
http://hl7.org/fhir/uv/genomics-reporting/pharmacogenomics.html
Related Artifact(s):

Diagnostic Implication
Resolution Description:
Hide

Persuasive with mod

Rather than adding a new profile or component, we will incorporate allele functional status by including LOINC answer list LL3858-9 (https://loinc.org/LL3858-9/) in the value set for the new 'predicted-therapeutic-implication' component.
Show
Persuasive with mod Rather than adding a new profile or component, we will incorporate allele functional status by including LOINC answer list LL3858-9 ( https://loinc.org/LL3858-9/ ) in the value set for the new 'predicted-therapeutic-implication' component.
Resolution Vote:
Arthur Herman / Bret Heale : 14-0-0
Change Category:
Enhancement
Change Impact:
Compatible, substantive

In this paper, work was done to standardize nomenclature for reporting PGx results. This table summarizes:

Under 'Medication Impact', we have profiles that do match up to the "Term/gene category" that are called out above:

Phenotype: high-risk genotype = "High Risk Allele (83009-1)",

Phenotype: drug-metabolizing enzymes = "Genotype Medication Metabolism Impact (53040-2)"

We are missing "Allele functional status" (increased function, normal function, etc ...) - Should we add a new profile for Allele Functional Status?

is voted on by

BALLOT-5388 Affirmative - Kevin Power : 2018-May-FHIR IG CG R1