Standardization Can Accelerate the Adoption of Pharmacogenomics: Current Status and the Path Forward

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.

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group

“…A central aim of this project was to continue the previously reported and ongoing efforts dedicated to standardizing inconsistent components related to clinical PGx, including genetic testing, interpretation, recommendations, and implementation . Importantly, we strongly encourage all PGx stakeholders to adopt the consent CYP2D6 translation system that has emerged from this project.…”

Precision pharmacotherapy: Integrating pharmacogenomics into clinical pharmacy practice

“…The number of genetic variants interrogated and their associated interpretations can vary among clinical pharmacogenomic testing platforms . Similar to how race and ethnicity can influence the prioritization of gene‐drug pairs for implementation, race and ethnicity influence the selection of a pharmacogenomic testing platform.…”

Essential Characteristics of Pharmacogenomics Study Publications

“…38,39 Several university and hospital systems have reported on the application of CPIC guidelines to practice including Florida, Vanderbilt, Chicago, Mayo, and St. Jude Children's Research Hospital and the need for standardization of testing and test result reporting. 40 To facilitate uptake of clinical implementation in healthcare systems, CPIC worked with a variety of stakeholders, via a modified Delphi process, to come to consensus terms to describe allele function and pharmacogenetic phenotypes. 41 CPIC is implementing standardized terms to describe the functionality of variants.…”