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Review
. 2022 Oct;88(10):4297-4310.
doi: 10.1111/bcp.15181. Epub 2022 Feb 7.

Pharmacogenomic testing in paediatrics: Clinical implementation strategies

Charlotte I S Barker  1   2 , Gabriella Groeneweg  3   4 , Anke H Maitland-van der Zee  5 , Michael J Rieder  6   7 , Daniel B Hawcutt  8   9 , Tim J Hubbard  1   10 , Jesse J Swen  11   12 , Bruce C Carleton  3   4   13
Affiliations
Review

Pharmacogenomic testing in paediatrics: Clinical implementation strategies

Charlotte I S Barker et al. Br J Clin Pharmacol. 2022 Oct.

Abstract

Pharmacogenomics (PGx) relates to the study of genetic factors determining variability in drug response. Implementing PGx testing in paediatric patients can enhance drug safety, helping to improve drug efficacy or reduce the risk of toxicity. Despite its clinical relevance, the implementation of PGx testing in paediatric practice to date has been variable and limited. As with most paediatric pharmacological studies, there are well-recognised barriers to obtaining high-quality PGx evidence, particularly when patient numbers may be small, and off-label or unlicensed prescribing remains widespread. Furthermore, trials enrolling small numbers of children can rarely, in isolation, provide sufficient PGx evidence to change clinical practice, so extrapolation from larger PGx studies in adult patients, where scientifically sound, is essential. This review paper discusses the relevance of PGx to paediatrics and considers implementation strategies from a child health perspective. Examples are provided from Canada, the Netherlands and the UK, with consideration of the different healthcare systems and their distinct approaches to implementation, followed by future recommendations based on these cumulative experiences. Improving the evidence base demonstrating the clinical utility and cost-effectiveness of paediatric PGx testing will be critical to drive implementation forwards. International, interdisciplinary collaborations will enhance paediatric data collation, interpretation and evidence curation, while also supporting dedicated paediatric PGx educational initiatives. PGx consortia and paediatric clinical research networks will continue to play a central role in the streamlined development of effective PGx implementation strategies to help optimise paediatric pharmacotherapy.

Keywords: children; personalised medicine; pharmacogenetics; precision medicine.

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Conflict of interest statement

G.G. holds a Genomic Applications Partnership Program grant from Genome Canada and Genome British Columbia with required matching funding from a commercial partner provided by Dynacare.

A.H.M. has received research grants outside the submitted work from GSK, Boehringer Íngelheim and Vertex, is the PI of a P4O2 (Precision Medicine for more Oxygen) public private partnership sponsored by Health Holland involving many private partners that contribute in cash and/or in kind (Boehringer Ingelheim, Breathomix, Fluidda, Ortec Logiqcare, Philips, Quantib‐U, Roche, Smartfish, SODAQ, Thirona, TopMD and Novartis), and she has served on advisory boards for AstraZeneca, GSK and Boehringer Ingelheim with money paid to her institution.

M.R. holds the CIHR‐GSK Chair in Paediatric Clinical Pharmacology at the University of Western Ontario and is a co‐investigator on a Genomic Applications Partnership Program grant from Genome Canada and Genome British Columbia with required matching funding from a commercial partner provided by Dynacare. M.R. holds unrelated grants from the National Science and Engineering Council, the Canadian Institutes of Health Research and the Academic Medical Association of Southwestern Ontario.

B.C. holds a Genomic Applications Partnership Program grant from Genome Canada and Genome British Columbia with required matching funding from a commercial partner provided by Dynacare. B.C. is also an advisor for pharmacogenetic testing at the UnitedHealth Group.

All the other authors declare they have no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Healthcare professions and other stakeholders who could contribute to a paediatric pharmacogenomics multidisciplinary team (MDT) meeting
See this image and copyright information in PMC

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