ARCHETYPE ID | openEHR-EHR-CLUSTER.pharmacogenetic_analyte_result.v0 |
Concept | Pharmacogenetic analyte result |
Description | Details of the result of pharmacogenetic testing against a single gene, including the detected genotype, pharmacognetic phenotype, activity score to support prescribing decision support. |
Use | The key use of this archetype is to record the results of pharmacogenetic testing to support clinical decision making, including digital prescribing decision support, commonly as part of a panel of similar results. It would commonly be carried inside the OBSERVATION.laboratory_test_result archetype, replacing , or perhaps alongside the CLUSTER.laboratory_analyte_result archetype, depending on exact laboratory reporting practice. Typically this testing is performed by testing for specific allele variations at a specific gene location, adding derived phenotypic information such as metaboliser status and activity score from which specific therapeutic implications may be drawn. Although some laboratory reports incorporate those therapeutic recommendations, these are explicitly intended to be carried in separate Genomic Therapeutic implication archetype. The principal reason is that those implications will change over time as new research emerges. A further issue is that each individual result may only cover a partial set of all known testable alleles for a specific gene, which means that the the full genotype and related pharmacogenetic phenotype may need to updated as further testing is done. Discussion is ongoing at to whether that 'cumulative result' is best derived dynamically from existing results , or whether a specific 'cumulative result' should be maintained as a separate record, probably as an Evaluation archetype, and updated as new individual results are obtained. The design was heavily influenced by the HL7 FHIR Genomics Reporting Implementation Guide and CPIC(http://cpicpgx.org/) guidance on reporting and terminology bindings. |
Misuse | This archetype is not intended to support other types of genomic analysis / beyond pharmacogenetics, such as molecular pathology reporting. |
Purpose | To record the details of the result of pharmacogenetic testing against a single gene, including the detected genotype, pharmacognetic phenotype, activity score to support prescribing decision support. |
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. |
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=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., 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=3A006A158FDD5B208A9CBCE5E1BF0280, build_uid=84ca568d-e093-4d7f-a57b-1cd95c7553cd, 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} |
Keywords | pharmacogenetics, laboratory, enzyme, medication, pgx, CPIC, recommendation, genomics |
Lifecycle | in_development |
UID | 594a2f90-6a64-4fc1-8578-066a25a938d0 |
Language used | en |
Citeable Identifier | 1013.1.7066 |
Revision Number | 0.0.1-alpha |
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