ARCHETYPE Pharmacogenetic gene profile (openEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0)

ARCHETYPE IDopenEHR-EHR-EVALUATION.pharmacogenetic_gene_profile.v0
ConceptPharmacogenetic gene profile
DescriptionDetails of cumulative pharmacogenetic phenotype findings relating to a single gene, in particular to record metaboliser status / functional activity against an enzyme known to impact the effectiveness/ toxicity of one or more medications. As individual pharmacogenetic tests may provide only incomplete allele testing, this archetype is intended to act as an overall cumulative representation of tall individual tests, from which therapeutic recommendations should be derived.
UseThere is crossover in purpose with the Precaution archetype https://ckm.openehr.org/ckm/archetypes/1013.1.2593, but this is designed to record many different therapeutic precautions, and to report only adverse effects e.g poor efficacy or toxicity, whereas this archetype is intended to capture both positive and negative effects and normal metaboliser status. In that respect this is perhaps closer to a a diagnosis then a risk factor or precaution. There is an argument that Precaution might be used to flag the presence of significant phenotypes, perhaps as a general statement such as 'Significant known metaboliser issues' which reference the specific Phenotypic records. The main content is intended to be carried in a slotted CLUSTER Pharmacogenetics analyte result archetype=, but in this context to record the cumulative results and not that of a single test.
MisuseNot to be used to record genomic phenotypes which are unrelated to pharmacogenetics, such as molecular genomics reports to support cancer care.
PurposeTo record details of pharmacogenetic phenotype findings relating to a single genotype, in particular to record metaboliser status / functional activity against an enzyme known to impact the effectiveness/ toxicity of one or more medications. As individual pharmacogenetic tests may provide only incomplete allele testing, this archetype is intended to act as an overall cumulative representation of tall individual tests, from which therapeutic recommendations should be derived.
ReferencesHL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR v4.0.1 "HL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR V4.0.1". Build.Fhir.Org, 2023, http://build.fhir.org/ig/HL7/genomics-reporting/background.html. Accessed 7 Mar 2023.

Dolin, R., Boxwala, A. and Shalaby, J. Dolin, R.H. et al. "A Pharmacogenomics Clinical Decision Support Service Based On FHIR And CDS Hooks". Methods Of Information In Medicine, vol 57, no. S 02, 2018, pp. e115-e123. Georg Thieme Verlag KG, doi:10.1055/s-0038-1676466. Accessed 7 Mar 2023.

Cpicpgx.Org, 2023, http://cpicpgx.org/wp-content/uploads/2016/02/CPIC-Term-Standardization-and-LOINC-151203.pdf. Accessed 22 May 2023.
Copyright© Apperta Foundation, openEHR Foundation
AuthorsAuthor name: Ian McNicoll
Organisation: freshEHR Clinical Informatics Ltd.
Email: ian@freshehr.com
Date originally authored: 2023-03-02
Other Details LanguageAuthor name: Ian McNicoll
Organisation: freshEHR Clinical Informatics Ltd.
Email: ian@freshehr.com
Date originally authored: 2023-03-02
OtherDetails Language Independent{licence=This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=openEHR Foundation, references=HL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR v4.0.1 "HL7.FHIR.UV.GENOMICS-REPORTING\Genomics Background - FHIR V4.0.1". Build.Fhir.Org, 2023, http://build.fhir.org/ig/HL7/genomics-reporting/background.html. Accessed 7 Mar 2023. Dolin, R., Boxwala, A. and Shalaby, J. Dolin, R.H. et al. "A Pharmacogenomics Clinical Decision Support Service Based On FHIR And CDS Hooks". Methods Of Information In Medicine, vol 57, no. S 02, 2018, pp. e115-e123. Georg Thieme Verlag KG, doi:10.1055/s-0038-1676466. Accessed 7 Mar 2023. Cpicpgx.Org, 2023, http://cpicpgx.org/wp-content/uploads/2016/02/CPIC-Term-Standardization-and-LOINC-151203.pdf. Accessed 22 May 2023., original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=5770759C24BACD3D3F49506A5F774BC2, build_uid=5d0a752f-a2e2-4f12-9308-aae97d6e8617, ip_acknowledgements=This artefact includes content from SNOMED Clinical Terms® (SNOMED CT®) which is copyrighted material of the International Health Terminology Standards Development Organisation (IHTSDO). Where an implementation of this artefact makes use of SNOMED CT content, the implementer must have the appropriate SNOMED CT Affiliate license - for more information contact https://www.snomed.org/snomed-ct/get-snomed or info@snomed.org., revision=0.0.1-alpha}
Keywordspharmacogenetics, pharmacogenomics, decision support, contraindication, precaution, pgx.
Lifecyclein_development
UID88d12437-d75a-40e7-99ac-6d25061d1bdc
Language useden
Citeable Identifier1013.1.7084
Revision Number0.0.1-alpha
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