Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

ValueSet: Evidence Level Examples

Official URL: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/evidence-level-example-vs Version: 3.0.1-SNAPSHOT
Active as of 2024-04-09 Computable Name: EvidenceLevelExampleVS

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Example sources of values for Evidence Level

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 star

Supported by practice guideline

  3-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs3 star

Supported by expert panel review

  2-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-cs2 star

Supported 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 star

Single submitter providing interpretation and documentation of criteria for assertion

  no-starhttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/clinvar-evidence-level-custom-csno star

submitted, no evidence

  1Ahttp://hl7.org/fhir/uv/genomics-reporting/CodeSystem/pharmgkb-evidence-level-custom-csPGKB 1A

High 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 1B

High 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 2A

Moderate 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 2B

Moderate 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 3

Low-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 4

The 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
System 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