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. 2025 Jan 1;35(1):1-11.
doi: 10.1097/FPC.0000000000000547. Epub 2024 Oct 3.

The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation

Affiliations

The Pharmacogenomics Global Research Network Implementation Working Group: global collaboration to advance pharmacogenetic implementation

Larisa H Cavallari et al. Pharmacogenet Genomics. .

Abstract

Pharmacogenetics promises to optimize treatment-related outcomes by informing optimal drug selection and dosing based on an individual's genotype in conjunction with other important clinical factors. Despite significant evidence of genetic associations with drug response, pharmacogenetic testing has not been widely implemented into clinical practice. Among the barriers to broad implementation are limited guidance for how to successfully integrate testing into clinical workflows and limited data on outcomes with pharmacogenetic implementation in clinical practice. The Pharmacogenomics Global Research Network Implementation Working Group seeks to engage institutions globally that have implemented pharmacogenetic testing into clinical practice or are in the process or planning stages of implementing testing to collectively disseminate data on implementation strategies, metrics, and health-related outcomes with the use of genotype-guided drug therapy to ultimately help advance pharmacogenetic implementation. This paper describes the goals, structure, and initial projects of the group in addition to implementation priorities across sites and future collaborative opportunities.

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Conflict of interest statement

Conflicts of interest

J.N.P. is a consultant for VieCure and Clarified Precision Medicine. C.B. is founder of Sequence2Script Inc. J.R.B. is a consultant for OptumRx. N.K.T. is a member of the Association of Pathology Chairs (APC) Advocacy Working Group, Chair-elect of the Critical and Point-of-Care Testing Division, Association for Diagnostics and Laboratory Medicine (ADLM). J.D.A. is a consultant to Nurture Genomics and Precision Genetics. For the remaining authors, there are no conflicts of interest.

Figures

Fig. 1
Fig. 1
Summary of gene–drug and phenotype–drug pairs implemented across sites. The bar graph shows the percentage of the 35 sites that have implemented each gene–drug pair. Data are ranked in descending order. The most common CYP2D6-antipsychotic medications implemented were aripiprazole, brexpiprazole, haloperidol, and risperidone. The most common CYP2D6-SNRI medication implemented was venlafaxine. Twelve (34%) sites reported implementation of an ‘other gene-drug pair not listed’ in the survey, which are summarized in Supplementary Table 1, Supplemental digital content 1, http://links.lww.com/FPC/B503. BBs, beta-blockers; NSAIDs: nonsteroidal anti-inflammatory drugs; PPIs, proton pump inhibitors; SNRIs, serotonin and norepinephrine reuptake inhibitors; SSRIs, selective serotonin reuptake inhibitors; TCAs, tricyclic antidepressants
Fig. 2
Fig. 2
Worldwide map of participating sites. The map highlights the countries and US states that have participating sites (shaded in purple).
Fig. 3
Fig. 3
Summary of participating site characteristics. (a) The type of institution of the 39 institutions that responded to the survey. (b) The patient population(s) served of the 39 institutions that responded to the survey. (c) The type of pharmacogenetic test implemented among the 35 sites reporting implementation of testing.
Fig. 4
Fig. 4
Summary of the initial year of pharmacogenetic implementation among participating sites. The bar graph shows the number of sites by calendar year that initiated clinical implementation at their institution using single gene testing or a multigene panel. Sixteen sites reported implementation of both single gene and multigene testing. The initial calendar year for both the single gene and multigene implementation at each of these sites are included in the figure.

References

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    1. Clinical Pharmacogenetics Implementation Consortium Guidelines. https://cpicpgx.org/guidelines/. [Accessed 14 May 2024]
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    1. National Library of Medicine, National Center for Biotechnology Information. GTR: Genetic Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=(testpurpose_drugrespon.... [Accessed 16 May 2024]
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