We use cookies to improve your experience. By continuing to browse this site, you accept our cookie policy.×
Skip main navigation
Aging Health
Bioelectronics in Medicine
Biomarkers in Medicine
Breast Cancer Management
CNS Oncology
Colorectal Cancer
Concussion
Epigenomics
Future Cardiology
Future Medicine AI
Future Microbiology
Future Neurology
Future Oncology
Future Rare Diseases
Future Virology
Hepatic Oncology
HIV Therapy
Immunotherapy
International Journal of Endocrine Oncology
International Journal of Hematologic Oncology
Journal of 3D Printing in Medicine
Lung Cancer Management
Melanoma Management
Nanomedicine
Neurodegenerative Disease Management
Pain Management
Pediatric Health
Personalized Medicine
Pharmacogenomics
Regenerative Medicine

Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptions

    Marie-Anne Pépin

    *Author for correspondence: Tel.: +1 514 345 4603;

    E-mail Address: marie-anne.pepin.hsj@ssss.gouv.qc.ca

    Pharmacy Practice Research Unit & Department of Pharmacy, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    ,
    Anne-Sophie Otis

    Pharmacy Practice Research Unit & Department of Pharmacy, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    ,
    Zoë Tremblay

    Pharmacy Practice Research Unit & Department of Pharmacy, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    ,
    Marianne Boulé

    Pharmacy Practice Research Unit & Department of Pharmacy, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    ,
    Denis Lebel

    Pharmacy Practice Research Unit & Department of Pharmacy, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    ,
    Philippe Major

    Research Center & Division of Neurology, Department of Pediatrics, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    Department of Neuroscience, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    Department of Pediatrics, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    ,
    Anne Lortie

    Research Center & Division of Neurology, Department of Pediatrics, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    Department of Neuroscience, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    Department of Pediatrics, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    ,
    Elana Pinchefsky

    Research Center & Division of Neurology, Department of Pediatrics, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    Department of Neuroscience, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    ,
    Elsa Rossignol

    Research Center & Division of Neurology, Department of Pediatrics, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    Department of Neuroscience, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    Department of Pediatrics, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    ,
    Bruce Carleton

    Professor & Division Head, Translational Therapeutics, Department of Pediatrics, University of British-Columbia, Vancouver, British-Columbia, H3T 1J4, Canada

    Director, Pharmaceutical Outcomes Programme, BC Children's Hospital, Vancouver, British-Columbia, V6H 3N1, Canada

    Investigator, BC Children's Hospital Research Institute, Vancouver, British-Columbia, V6H 3N1, Canada

    ,
    Jean-François Bussières

    Pharmacy Practice Research Unit & Department of Pharmacy, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    Clinical Professor, Faculty of Pharmacy, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    &
    Marie-Élaine Métras

    Pharmacy Practice Research Unit & Department of Pharmacy, CHU Sainte-Justine, Montréal, Québec, H3T 1C5, Canada

    Clinical Professor, Faculty of Pharmacy, Université de Montréal, Montréal, Québec, H3T 1J4, Canada

    Published Online:https://doi.org/10.2217/pme-2021-0150

    Aim: To evaluate clinicians' and patients' perceptions of pharmacogenetic testing in a clinical setting. Materials & methods: This is a pragmatic mixed-method prospective observational study. Hospital pharmacists and neurologists participated in focus groups regarding pharmacogenetic testing; patients who received pharmacogenetic testing and their community pharmacists completed surveys to assess their perception of these tests. Results: Most study participants had a positive view of pharmacogenetic testing. Three major themes were identified from the focus groups: receptiveness to pharmacogenetic testing, pharmacogenetic test characteristics and integrating pharmacogenetic tests into practice. Conclusion: The views reported are encouraging for the eventual implementation of pharmacogenetics in practice. Local integration of these tests is an essential step to improve patient care through personalized medicine.

    Plain language summary

    Genetic tests can help predict patients' response to medication. This study aimed to evaluate clinicians' and patients' perceptions of these genetic tests. Pediatric patients, with epilepsy, were tested and completed a survey to assess their perception of these tests. A survey was also completed by their community pharmacists, and virtual discussion groups were held with hospital pharmacists and neurologists. Most participants had a positive view of these tests, with three major themes identified from the discussion groups: receptiveness to testing, test characteristics and integration of tests into practice. The views reported are encouraging for the eventual implementation of these tests in practice, an essential step to improve patient care through personalized medicine.

    Tweetable abstract

    A pragmatic mixed-methods prospective observational study found that clinicians and patients favor the implementation of pharmacogenetic testing in the field of pediatric epilepsy to improve patient care #pharmacogenetics #pediatric #neurology.

    Papers of special note have been highlighted as: • of interest; •• of considerable interest

    References

    • 1. Center for Drug Evaluation and Research. Table of Pharmacogenomic Biomarkers. U.S. Food and Drug Administration. FDA (2021). Available at: http://www.fda.gov/drugs/science-and-research-drugs/table-pharmacogenomic-biomarkers-drug-labeling
    • 2. Canadian Pharmacogenomics Network for Drug Safety. Progress CPNDS. Available at: http://cpnds.ubc.ca/progress/
    • 3. Clinical Pharmacogenetics Implementation Consortium. Guidelines CPIC (2021). Available at: https://cpicpgx.org/guidelines/
    • 4. PharmGKB. Pharmacogenomics Knowledgebase PharmGKB. Available at: www.pharmgkb.org/
    • 5. Abou Diwan E, Zeitoun RI, Abou Haidar L, Cascorbi I, Khoueiry Zgheib N. Implementation and obstacles of pharmacogenetics in clinical practice: an international survey. Br. J. Clin. Pharmacol. 85(9), 2076–2088 (2019).
    • 6. Meloche M, Kwon HJ, Letarte N et al. Opinion, experience and educational preferences concerning pharmacogenomics: an exploratory study of Quebec pharmacists. Pharmacogenomics 21(4), 235–245 (2020).
    • 7. Petit C, Croisetière A, Chen F, Laverdière I. Are pharmacists from the province of Quebec ready to integrate pharmacogenetics into their practice. Pharmacogenomics 21(4), 247–256 (2020).
    • 8. Cavallari LH, Beitelshees AL, Blake KV et al. The IGNITE pharmacogenetics working group: an opportunity for building evidence with pharmacogenetic implementation in a real-world setting. Clin. Transl. Sci. 10(3), 143–146 (2017).
    • 9. Pulley JM, Denny JC, Peterson JF et al. Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project. Clin. Pharmacol. Ther. 92(1), 87–95 (2012).
    • 10. Cecchin E, Roncato R, Guchelaar HJ, Toffoli G. Ubiquitous Pharmacogenomics Consortium. Ubiquitous pharmacogenomics (U-PGx): the time for implementation is now. An Horizon2020 program to drive pharmacogenomics into clinical practice. Curr. Pharm. Biotechnol. 18(3), 204–209 (2017).
    • 11. Lazarou J, Pomeranz BH, Corey PN. Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. JAMA 279(15), 1200–1205 (1998).
    • 12. Xue-Ping W, Hai-Jiao W, Li-Na Z, Xu D, Ling L. Risk factors for drug-resistant epilepsy: a systematic review and meta-analysis. Medicine 98(30), e16402 (2019).
    • 13. Lemke AA, Hulick PJ, Wake DT et al. Patient perspectives following pharmacogenomics results disclosure in an integrated health system. Pharmacogenomics 19(4), 321–331 (2018).
    • 14. Peterson JF, Field JR, Shi Y et al. Attitudes of clinicians following large-scale pharmacogenomics implementation. Pharmacogenomics J. 16(4), 393–398 (2016). •• Surveyed clinicians' to evaluate their attitudes towards pharmacogenetic testing after participating in an implementation program.
    • 15. Borden BA, Galecki P, Wellmann R et al. Assessment of provider-perceived barriers to clinical use of pharmacogenomics during participation in an institutional implementation study. Pharmacogenet. Genom. 29(2), 31–38 (2019). •• Semi structured interviews were performed to evaluate provider attitudes of and perceived barriers to the clinical use of pharmacogenomics before and during participation in an implementation program.
    • 16. Owusu Obeng A, Fei K, Levy KD et al. Physician-reported benefits and barriers to clinical implementation of genomic medicine: a multi-site IGNITE-Network Survey. J. Pers. Med. 8(3), 24 (2018). •• Surveyed physicians involved in pharmacogenetics initiatives and revealed that they were more favorable towards pharmacogenetic testing in practice.
    • 17. Brown JT, Ramsey LB, Van Driest SL, Aka I, Colace SI. Characterizing pharmacogenetic testing among children's hospitals. Clin. Transl. Sci. 14(2), 692–701 (2021).
    • 18. Gregornik D, Salyakina D, Brown M, Roiko S, Ramos K. Pediatric pharmacogenomics: challenges and opportunities: on behalf of the Sanford Children's Genomic Medicine Consortium. Pharmacogenomics J. 21(1), 8–19 (2021).
    • 19. Bank PCD, Swen JJ, Guchelaar HJ. Implementation of pharmacogenomics in everyday clinical settings. Adv. Pharmacol. 83, 219–246 (2018). • A comprehensive review of barriers and facilitators to the implementation of pharmacogenetics in a clinical setting.
    • 20. Unertl KM, Jaffa H, Field JR, Price L, Peterson JF. Clinician perspectives on using pharmacogenomics in clinical practice. Per. Med. 12(4), 339–347 (2015). • Semi-structured interviews allowed to evaluate certain barriers to implementing pharmacogenetics, including workflow integration, longitudinal responsibility and insurance reimbursement.
    • 21. Breaux S, Desrosiers FAD, Neira M, Sinha S, Nislow C. Pharmacogenomics at the point of care: a community pharmacy project in British Columbia. J. Pers Med. 11(1), 11 (2020). • Community pharmacies provided pharmacogenetic testing to patients, and pharmacists were identified as competent providers of such services.
    • 22. van der Wouden CH, Paasman E, Teichert M, Crone MR, Guchelaar HJ, Swen JJ. Assessing the implementation of pharmacogenomic panel-testing in primary care in The Netherlands utilizing a theoretical framework. J. Clin. Med. 9(3), 814 (2020). • Pharmacists participated in semi-structured interviews, where pharmacists were identified as enablers for the integration of pharmacogenetic testing in practice.
    • 23. Swen JJ, Nijenhuis M, van Rhenen M et al. Pharmacogenetic information in clinical guidelines: the European perspective. Clin. Pharmacol. Ther. 103(5), 795–801 (2018).
    • 24. Dunnenberger HM, Crews KR, Hoffman JM et al. pre-emptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu. Rev. Pharmacol. Toxicol. 55, 89–106 (2015).
    • 25. Bush WS, Crosslin DR, Owusu-Obeng A et al. Genetic variation among 82 pharmacogenes: the PGRNseq data from the eMERGE network. Clin. Pharmacol. Ther. 100(2), 160–169 (2016).
    • 26. Cohn I, Manshaei R, Liston E et al. Assessment of the implementation of pharmacogenomic testing in a pediatric tertiary care setting. JAMA Netw. Open 4(5), e2110446 (2021). • This study was conducted in a pediatric hospital in Toronto showed that both point-of-care and pre-emptive pharmacogenetic testing provided similar rates of recommendations for therapy modification.