Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)
Autor: | James M. Hoffman, Heidi L. Rehm, Stuart A. Scott, Kelly E. Caudle, Jonathan D. Burlison, Robert R. Freimuth, Michelle Whirl-Carrillo, Josh F. Peterson, Teri E. Klein, Mary V. Relling, Marc S. Williams, Henry M. Dunnenberger |
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Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
0301 basic medicine
medicine.medical_specialty Delphi method MEDLINE Pharmacology 030226 pharmacology & pharmacy Clinical decision support system 03 medical and health sciences 0302 clinical medicine Surveys and Questionnaires Terminology as Topic Health care terminology medicine Electronic Health Records Humans Medical physics Original Research Article Genetic Testing Genetics (clinical) Alleles Genetic testing pharmacogenomics CPIC medicine.diagnostic_test business.industry 3. Good health 030104 developmental biology Phenotype Pharmacogenetics Pharmacogenomics nomenclature business Pharmacogenetic Test |
Zdroj: | Genetics in Medicine |
ISSN: | 1530-0366 1098-3600 |
Popis: | Introduction: Reporting and sharing pharmacogenetic test results across clinical laboratories and electronic health records is a crucial step toward the implementation of clinical pharmacogenetics, but allele function and phenotype terms are not standardized. Our goal was to develop terms that can be broadly applied to characterize pharmacogenetic allele function and inferred phenotypes. Materials and methods: Terms currently used by genetic testing laboratories and in the literature were identified. The Clinical Pharmacogenetics Implementation Consortium (CPIC) used the Delphi method to obtain a consensus and agree on uniform terms among pharmacogenetic experts. Results: Experts with diverse involvement in at least one area of pharmacogenetics (clinicians, researchers, genetic testing laboratorians, pharmacogenetics implementers, and clinical informaticians; n = 58) participated. After completion of five surveys, a consensus (>70%) was reached with 90% of experts agreeing to the final sets of pharmacogenetic terms. Discussion: The proposed standardized pharmacogenetic terms will improve the understanding and interpretation of pharmacogenetic tests and reduce confusion by maintaining consistent nomenclature. These standard terms can also facilitate pharmacogenetic data sharing across diverse electronic health care record systems with clinical decision support. Genet Med 19 2, 215–223. |
Databáze: | OpenAIRE |
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