This page provides a list of the FHIR artifacts defined as part of this implementation guide.

General Profiles

General constraints on FHIR resources to be adhered to as part of the CG implementation guide that apply regardless of what area(s) of genomics are of interest

•  Base observation common properties	Base profile that defines characteristics shared by all genetic observations
•  CG Diagnostic Report	Defines the overall genetic report
•  CG Specimen	Constraints on Specimen for use with clinical genomics reporting
•  Recomended Followup	Task describing the followup that is recommended
•  Order for Genetics Test	The lab order or request that triggered the execution of the genetics test
•  Genetic Panel	Organizes information within a genetic report
•  Genetic analysis overall interpretation	Provides a coarse overall interpretation of the genetic results reported.
•  Deletion-duplication overall interpretation	Provides an overall interpretation of whether any deletions or duplications were found as part of the genetic analysis
•  Chromosome analysis overall interpretation	Provides a coarse overall interpretation of the chromosomal analysis results reported.
•  Descriptive Genetic Finding	Properties common to genetic findings whose results are expressed as narrative
•  Computable Genetic Finding	Properties common to genetic findings whose results are expressed as computable discrete elements (e.g. genotypes, haplotypes, variants, etc.)
•  Haplotype	Assertion of a particular haplotype on the basis of one or more variants
•  Genotype	Assertion of a particular genotype on the basis of one or more variants or haplotypes
•  Cytogenic Notation	Fully describes a variant with a single code. Typically a large variant such as a mosaic, abnormal chromosome numbers, etc.
•  Complex Variant	A variant consisting of multiple independent consecutive variations
•  Described Variant (Discrete or Structural)	Details about a set of changes in the tested sample compared to a reference sequence.
•  Definitional Sequence	A profile on sequence that limits it to definitional elements, excluding patient-specific measurement information
•  Sequence Configuration	Indicates whether two sequences are in Cis (same strand) or Trans (opposite strand) relationship to each other
•  Genetic Impact	Abstract profile for observations describing the impact of one or more genetic observations.
•  Inheritable Disease Pathology	Provides an indication of whether there's a pathologic risk associated with a particular genotype, haplotype, variant or combination there-of, and if so, what the associated pathology is.

Somatics

Profiles related to the reporting of somatic genetic issues

•  Somatic Impact	Finding of whether a particular somatic genotype/haplotype/variation or combination-thereof provides evidence for or against a particular type of cancer or the effectiveness of different interventions
•  Somatic Diagnostic Impact	Finding of whether a particular somatic genotype/haplotype/variation or combination-thereof supports or opposes the diagnosis of a particular cancer
•  Somatic Prognostic Impact	Finding of whether a particular somatic genotype/haplotype/variation or combination-thereof predicts a particular outcome for the specified cancer - either on its own or in conjunction with one or more interventions
•  Somatic Predictive Impact	Finding of whether a particular somatic genotype/haplotype/variation or combination-thereof predicts the impact of a specified medication or combination of medications

Pharmacogenomics

Profiles for reports relating to genetic impact on medication use and effectiveness

•  Genetic Medication Impact	Abstract profile with common properties for observations that convey the potential impact of a genetic characteristics on a medication
•  Genotype medication metabolism impact	Assertion of the expected impact of a particular genotype on the ability of the subject to metabolize medications
•  Genotype medication efficacy impact	Assertion of the expected impact of a particular genotype on the efficacy of medications for the subject
•  High Risk Allele	Assertion of whether the patient has a high-risk allele
•  Medication Adjustment Proposal	Task describing what sort of change (if any) should be made in a patient's medication based on an identified genotype
•  Current Medication	MedicationStatement describing a med potentially being taken by the patient that may require adjustment

Cytogenomics

Profiles for reporting cytogenic results

•  Chromosome analysis G-banding panel	Chromosome analysis that uses traditional banding technique.
•  Chromosome Analysis FISH panel	Fluorescence in situ hybridization test results
•  Chromosome copy number change panel	Details about the copy number pair, such as the base pair start and end coordinates of where the change occurred.
•  Device Micro-array Platform	Information about a micro-array platform used as part of copy number change testing
•  DeviceComponent Fish Probe	Information about the probe used in a FISH test

Extensions

Extensions defined as part of the CG implementation guide

•  Related Artifact	Captures citations, evidence and other supporting documentation for the observation or report
•  Recommended action	References a proposed action that is recommended based on the results of the diagnostic report
•  Supporting Information	Additional information relevant to interpreting/understanding the report
•  Focus	Allows an observation to be made about multiple things.
•  Recommended action	References a proposed action that is recommended based on the results of the observation.
•  Unsolicited?	If true, indicates that the observation was not asked for as part of the report but was provided as additional useful information by the reporting lab or other service provider.
•  Manufacturer	Indicates the manufacturer for a particular component

Example(s)

Example(s) showing the use of the CG profiles

•  CG Test	Test instance showing data from the CG v2 spec
•  PGx Example	Pharmacogenomic Report Example instances
•  HLA Example	HLA Typing Example