ARCHETYPE ID | openEHR-EHR-CLUSTER.pharmacogenetic_test_result.v1 |
Concept | Pharmacogenetic test result |
Description | Findings from pharmacogenetic testing of a single gene, used to predict how an individual may respond to specific medications. |
Use | Use to record findings from pharmacogenetic testing of a single gene, used to predict how an individual may respond to specific medications. This archetype has been designed so that one or more instances of this archetype may be nested within the 'Analyte result detail' SLOT in the CLUSTER.laboratory_test_analyte archetype, carried inside the 'Test result' SLOT in the OBSERVATION.laboratory_test_result archetype, to be consistent with the existing approach to laboratory modelling. |
Misuse | Not to be used to record information about specific genomic variants. Use one or more of the Genomics variant family of archetypes for this purpose. Not to be used to record therapeutic recommendations that are the conclusions or interpretations based on each Pharmacogenetic test result. |
Purpose | To record findings from pharmacogenetic testing of a single gene, used to predict how an individual may respond to specific medications. |
References | Caudle KE, Dunnenberger HM, Freimuth RR, Peterson JF, Burlison JD, Whirl-Carrillo M, Scott SA, Rehm HL, Williams MS, Klein TE, Relling MV, Hoffman JM. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet Med. 2017 Feb;19(2):215-223. doi: 10.1038/gim.2016.87. Epub 2016 Jul 21. PMID: 27441996; PMCID: PMC5253119. Goar W, Babb L, Chamala S, Cline M, Freimuth RR, Hart RK, Kuzma K, Lee J, Nelson T, Prlić A, Riehle K, Smith A, Stahl K, Yates AD, Rehm HL, Wagner AH. Development and application of a computable genotype model in the GA4GH Variation Representation Specification. Pac Symp Biocomput. 2023;28:383-394. PMID: 36540993; PMCID: PMC9782714. Health Level 7 International [Internet]. Genomics Reporting Implementation Guide [cited 2024 Sep 3]. Available from: https://hl7.org/fhir/uv/genomics-reporting/. Dolin RH, Boxwala A, Shalaby J. A Pharmacogenomics Clinical Decision Support Service Based on FHIR and CDS Hooks. Methods Inf Med. 2018 Dec;57(S 02):e115-e123. doi: 10.1055/s-0038-1676466. Epub 2019 Jan 3. PMID: 30605914. Professional Record Standards Body [Internet]. Using pharmacogenomic information in clinical practice [cited 2024 Sep 3]. Available from: https://theprsb.org/projects/geneticsandmedicines/. McDermott JH, Wright S, Sharma V, Newman WG, Payne K, Wilson P. Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review. Front Med (Lausanne). 2022 Aug 18;9:945352. doi: 10.3389/fmed.2022.945352. PMID: 36059837; PMCID: PMC9433561. Roosan D, Hwang A, Law AV, Chok J, Roosan MR. The inclusion of health data standards in the implementation of pharmacogenomics systems: a scoping review. Pharmacogenomics. 2020 Nov;21(16):1191-1202. doi: 10.2217/pgs-2020-0066. Epub 2020 Oct 30. PMID: 33124487. |
Copyright | © openEHR Foundation |
Authors | Author name: Ian McNicoll Organisation: freshEHR Clinical Informatics Email: ian@freshEHR.com Date originally authored: 2023-05-22 |
Other Details Language | Author name: Ian McNicoll Organisation: freshEHR Clinical Informatics Email: ian@freshEHR.com Date originally authored: 2023-05-22 |
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=Apperta UK, references=Caudle KE, Dunnenberger HM, Freimuth RR, Peterson JF, Burlison JD, Whirl-Carrillo M, Scott SA, Rehm HL, Williams MS, Klein TE, Relling MV, Hoffman JM. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet Med. 2017 Feb;19(2):215-223. doi: 10.1038/gim.2016.87. Epub 2016 Jul 21. PMID: 27441996; PMCID: PMC5253119. Goar W, Babb L, Chamala S, Cline M, Freimuth RR, Hart RK, Kuzma K, Lee J, Nelson T, Prlić A, Riehle K, Smith A, Stahl K, Yates AD, Rehm HL, Wagner AH. Development and application of a computable genotype model in the GA4GH Variation Representation Specification. Pac Symp Biocomput. 2023;28:383-394. PMID: 36540993; PMCID: PMC9782714. Health Level 7 International [Internet]. Genomics Reporting Implementation Guide [cited 2024 Sep 3]. Available from: https://hl7.org/fhir/uv/genomics-reporting/. Dolin RH, Boxwala A, Shalaby J. A Pharmacogenomics Clinical Decision Support Service Based on FHIR and CDS Hooks. Methods Inf Med. 2018 Dec;57(S 02):e115-e123. doi: 10.1055/s-0038-1676466. Epub 2019 Jan 3. PMID: 30605914. Professional Record Standards Body [Internet]. Using pharmacogenomic information in clinical practice [cited 2024 Sep 3]. Available from: https://theprsb.org/projects/geneticsandmedicines/. McDermott JH, Wright S, Sharma V, Newman WG, Payne K, Wilson P. Characterizing pharmacogenetic programs using the consolidated framework for implementation research: A structured scoping review. Front Med (Lausanne). 2022 Aug 18;9:945352. doi: 10.3389/fmed.2022.945352. PMID: 36059837; PMCID: PMC9433561. Roosan D, Hwang A, Law AV, Chok J, Roosan MR. The inclusion of health data standards in the implementation of pharmacogenomics systems: a scoping review. Pharmacogenomics. 2020 Nov;21(16):1191-1202. doi: 10.2217/pgs-2020-0066. Epub 2020 Oct 30. PMID: 33124487., current_contact=Ian McNicoll (ian@freshehr.com>, original_namespace=org.openehr, original_publisher=openEHR International, custodian_namespace=uk.org.clinicalmodels, MD5-CAM-1.0.1=C5C54D6C18EA15982BFF698F9C5A4006, build_uid=996509f9-c355-4e27-9f75-ed661f89133c, 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=1.0.1} |
Keywords | pharmacogenetics, laboratory, enzyme, medication, pgx, CPIC, genomics, pharmacogenomics, genotype |
Lifecycle | published |
UID | 3afd45c3-96fc-4329-af60-91f390afd43c |
Language used | en |
Citeable Identifier | 1013.1.7066 |
Revision Number | 1.0.1 |
All | Archetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=Findings from pharmacogenetic testing of a single gene, used to predict how an individual may respond to specific medications., archetypeConceptComment=null, otherContributors=Vebjørn Arntzen, Oslo University Hospital, Norway (openEHR Editor) Koray Atalag, GALATA-Digital, New Zealand Silje Ljosland Bakke, Helse Vest IKT AS, Norway (openEHR Editor) Nicole Bertram, Epic, United States SB Bhattacharyya, Bhattacharyyas Clinical Records Research & Informatics LLP, India Giovanni Delussu, crs4, Italy Halvor Ekeland, Oslo University Hospital, Norway Heather Grain, Llewelyn Grain Informatics, Australia Evelyn Hovenga, EJSH Consulting, Australia Jessica Keen, NHS North West Genomic Medicine Service Alliance, United Kingdom Heidi Koikkalainen, United Kingdom (openEHR Editor) Anjali Kulkarni, Karkinos, India Jörgen Kuylenstierna, eWeave AB, Sweden Heather Leslie, Atomica Informatics, Australia (openEHR Editor) Cecilia Mascia, CRS4, Italy John McDermott, University of Manchester Ian McNicoll, freshEHR Clinical Informatics, United Kingdom (openEHR Editor) Paul Miller, NES Digital Service, NHS Scotland, United Kingdom (openEHR Editor) Laura Moral Lopez, Sistema de Salut de Catalunya, Spain William Newman, University of Manchester Mikael Nyström, Cambio Healthcare Systems AB, Sweden Sandra Oliver, Manchester Foundation Trust, United Kingdom Marlene Pérez Colman, Digital Health and Care Wales, United Kingdom (openEHR Editor) Mark Santcroos, Leiden University Medical Center, Netherlands Videha Sharma, University of Manchester, United Kingdom (openEHR Editor) Kanthan Theivendran, NHS, United Kingdom John Tore Valand, Helse Vest IKT, Norway, originalLanguage=en, translators=, subjectOfData=unconstrained, archetypeTranslationTree=null, topLevelToAshis={state=[], contacts=[], details=[], description=[], content=[], provider=[], data=[], identities=[], other_participations=[], activities=[], protocol=[], credentials=[], events=[], context=[], relationships=[], target=[], capabilities=[], items=[ResourceSimplifiedHierarchyItem [path=/items[at0003], code=at0003, itemType=ELEMENT, level=1, text=Gene symbol, description=The official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name., comment=Coding with an external terminology is preferred, where possible. Preferably this should be coded with terms from the HGNC (HUGO Gene Nomenclature Committee) nomenclature, using 'http://www.genenames.org' as the terminology identifier. 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