Pharmacogenetic testing in pediatric neurology: a pragmatic study evaluating clinician and patient perceptions
Abstract
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. . Implementation and obstacles of pharmacogenetics in clinical practice: an international survey. Br. J. Clin. Pharmacol. 85(9), 2076–2088 (2019).
- 6. Opinion, experience and educational preferences concerning pharmacogenomics: an exploratory study of Quebec pharmacists. Pharmacogenomics 21(4), 235–245 (2020).
- 7. . Are pharmacists from the province of Quebec ready to integrate pharmacogenetics into their practice. Pharmacogenomics 21(4), 247–256 (2020).
- 8. 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. Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project. Clin. Pharmacol. Ther. 92(1), 87–95 (2012).
- 10. . 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. . Incidence of adverse drug reactions in hospitalized patients: a meta-analysis of prospective studies. JAMA 279(15), 1200–1205 (1998).
- 12. . Risk factors for drug-resistant epilepsy: a systematic review and meta-analysis. Medicine 98(30), e16402 (2019).
- 13. Patient perspectives following pharmacogenomics results disclosure in an integrated health system. Pharmacogenomics 19(4), 321–331 (2018).
- 14. 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. 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. 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. . Characterizing pharmacogenetic testing among children's hospitals. Clin. Transl. Sci. 14(2), 692–701 (2021).
- 18. . Pediatric pharmacogenomics: challenges and opportunities: on behalf of the Sanford Children's Genomic Medicine Consortium. Pharmacogenomics J. 21(1), 8–19 (2021).
- 19. . 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. . 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. . 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. . 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. Pharmacogenetic information in clinical guidelines: the European perspective. Clin. Pharmacol. Ther. 103(5), 795–801 (2018).
- 24. pre-emptive clinical pharmacogenetics implementation: current programs in five US medical centers. Annu. Rev. Pharmacol. Toxicol. 55, 89–106 (2015).
- 25. Genetic variation among 82 pharmacogenes: the PGRNseq data from the eMERGE network. Clin. Pharmacol. Ther. 100(2), 160–169 (2016).
- 26. 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.