Details
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Change Request
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Resolution: Persuasive with Modification
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Medium
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Genomics Reporting (FHIR)
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Clinical Genomics
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Diagnostic Implication
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Arthur Herman / Bret Heale : 14-0-0
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Enhancement
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Compatible, substantive
Description
In this paper, work was done to standardize nomenclature for reporting PGx results. This table summarizes:
https://www.nature.com/articles/gim201687/tables/2
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?
Attachments
Issue Links
- is voted on by
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BALLOT-5388 Affirmative - Kevin Power : 2018-May-FHIR IG CG R1
- Closed