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Review
. 2018 Jul 1;19(10):847-860.
doi: 10.2217/pgs-2018-0028. Epub 2018 Jun 19.

Standardization can accelerate the adoption of pharmacogenomics: current status and the path forward

Kelly E Caudle  1 , Nicholas J Keeling  1   2 , Teri E Klein  3 , Michelle Whirl-Carrillo  3 , Victoria M Pratt  4 , James M Hoffman  1   5
Affiliations
Review

Standardization can accelerate the adoption of pharmacogenomics: current status and the path forward

Kelly E Caudle et al. Pharmacogenomics. .

Abstract

Successfully implementing pharmacogenomics into routine clinical practice requires an efficient process to order genetic tests and report the results to clinicians and patients. Lack of standardized approaches and terminology in clinical laboratory processes, ordering of the test and reporting of test results all impede this workflow. Expert groups such as the Association for Molecular Pathology and the Clinical Pharmacogenetics Implementation Consortium have published recommendations for standardizing laboratory genetic testing, reporting and terminology. Other resources such as PharmGKB, ClinVar, ClinGen and PharmVar have established databases of nomenclature for pharmacogenetic alleles and variants. Opportunities remain to develop new standards and further disseminate existing standards which will accelerate the implementation of pharmacogenomics.

Keywords: CPIC; PharmGKB; implementation; pharmacogenetics; pharmacogenomics; standardization.

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Conflict of interest statement

Financial & competing interests disclosure

This work was funded by the NIH for CPIC (R24GM115264; KE Caudle, JM Hoffman, TE Klein, M Whirl-Carrillo) and PharmGKB (R24GM61374; TE Klein, M Whirl-Carrillo). VM Pratt is supported by the IGNITE project grant (U01HG007762) and the Indiana University Health – Indiana University School of Medicine Strategic Research Initiative. The Indiana University School of Medicine Pharmacogenomics Laboratory is a fee-for-service clinical laboratory that offers clinical pharmacogenetic testing. ALSAC supports KE Caudle, JM Hoffman and NJ Keeling. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of thismanuscript.

Figures

<b>Figure 1.</b>
Figure 1.. Pharmacogenomic implementation processes and impact on clinical practice and patient care.
AMP: Association for Molecular Pathology; CPIC: Clinical Pharmacogenetics Implementation Consortium; EHR: Electronic health record; HGVS: Human Genome Variation Society; LOINC: Logical Observation Identifier Names and Code.
See this image and copyright information in PMC

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