secondaryFinding

Secondary Finding

draftFHIR Core package4.3.01 context

Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when Whole Exome Sequencing (WES) or Whole Genome Sequencing (WGS) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement.

For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings.

Metadata

hl7.org/fhir
Canonical URL
http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
ID
observation-secondaryFinding
Name
secondaryFinding

Context (1)

This extension can be used on the following elements:

elementObservation
PathCard.TypeFlagsDescription
Extension0..1
Secondary findings are genetic test results that provide information about variants in a gene unrelated to the primary purpose for the testing, most often discovered when [Whole Exome Sequencing (WES)](https://en.wikipedia.org/wiki/Exome_sequencing) or [Whole Genome Sequencing (WGS)](https://en.wikipedia.org/wiki/Whole_genome_sequencing) is performed. This extension should be used to denote when a genetic finding is being shared as a secondary finding, and ideally refer to a corresponding guideline or policy statement. For more detail, please see: https://ghr.nlm.nih.gov/primer/testing/secondaryfindings
extension
url
fixed: http://hl7.org/fhir/StructureDefinition/observation-secondaryFinding
value[x]
CodeableConcept
extensible