Genomics Reporting Implementation Guide
2.0.0 - trial-use

This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

ValueSet: Evidence Level Examples

Summary

Defining URL:http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs
Version:2.0.0
Name:EvidenceLevelExampleVS
Title:Evidence Level Examples
Status:Active as of 2022-05-09 04:53:07+0000
Definition:

Example sources of values for Evidence Level

Publisher:HL7 Clinical Genomics Working Group
Copyright:

This material contains content from LOINC (http://loinc.org). LOINC is copyright © 1995-2020, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license. LOINC® is a registered United States trademark of Regenstrief Institute, Inc.

Source Resource:XML / JSON / Turtle

References

Logical Definition (CLD)

This value set includes codes based on the following rules:

 

Expansion

This value set contains 11 concepts

CodeSystemDisplayDefinition
  4-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs4 starSupported by practice guideline
  3-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs3 starSupported by expert panel review
  2-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs2 starSupported by submission by multiple-submitters with documentation of criteria for assertion
  1-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs1 starSingle submitter providing interpretation and documentation of criteria for assertion
  no-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-csno starsubmitted, no evidence
  1Ahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-csPGKB 1AHigh level of evidence. Supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.
  1Bhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-csPGKB 1BHigh level of evidence. But, NOT supported by a guideline or FDA label with variant specific prescribing guidance. Additionally, supported by at least one publication.
  2Ahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-csPGKB 2AModerate level of evidence. Supported by being a KNOWN pharmacogene on https://www.pharmgkb.org/vips. Also, found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.
  2Bhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-csPGKB 2BModerate level of evidence. NOT in the list of very important, KNOWN pharmacogenes. Found in multiple studies but may have a minority of studies that did not support the majority opinion. Supported by at least two indpendent publications.
  3http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-csPGKB 3Low-level of evidence. Where either the assocation is based on a single study, failed to be reproduced, or preliminary evidence.
  4http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-csPGKB 4The evidence does not support an association between the variant and the drug phenotype. (negative)

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
Source The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code