Understanding Patient Experiences and Meaning-Making in Pharmacogenomic-Based Clinical Decision-Making
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Abstract
Pharmacogenomics, the study of how genetic variations influence individual responses to medication, has become a critical component of personalized medicine. While its clinical application continues to expand, little is known about how patients personally experience and interpret pharmacogenomic-based therapeutic decisions. Prior research has focused largely on clinical efficacy and implementation strategies, leaving a gap in understanding the subjective, emotional, and ethical dimensions of this experience. This study addresses the question: How do patients make sense of and respond to pharmacogenomic information in the context of clinical decision-making? Using a qualitative research design grounded in an interpretative phenomenological approach,, this research explores patients’ lived experiences to reveal how they engage with, trust, and internalize genetically informed treatment. Data were collected through in-depth, semi-structured interviews with eight adult patients who had recently received pharmacogenomic-guided therapy. Thematic analysis revealed four key themes: navigating uncertainty about genetic information, negotiating trust in healthcare providers, constructing personal meaning from genomic data, and reflecting on ethical implications. These findings illustrate the interpretive work patients undertake when confronted with personalized genetic information and emphasize the emotional and relational complexities involved. The study contributes a nuanced, patient-centered perspective to the literature and underscores the importance of empathetic communication in clinical genomics. These insights offer practical implications for improving patient engagement and support further exploration of ethical and cultural dimensions in personalized medicine.
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References
Beauchamp, T. L., & Childress, J. F. (2019). Principles of biomedical ethics (8th ed.). Oxford University Press. https://doi.org/10.1093/med/9780190640873.001.0001
Bombard, Y., Mighton, C., Papp, J. C., Grace, S. L., Chaisson, K., Caswell-Jin, J. L., & Hagan, K. E. (2018). Engagement with genetic information and its psychological impact: A systematic review. Journal of Genetic Counseling, 27(3), 455–467. https://doi.org/10.1007/s10897-017-0145-3
De Vries, R. G., Ryan, K. A., & Ubel, P. A. (2011). Public perspectives on informed consent for biobanking. American Journal of Medical Genetics Part A, 155(12), 3183–3191. https://doi.org/10.1002/ajmg.a.34304
Dressler, L. G., & Juengst, E. T. (2006). Biospecimen banking as a biotrust. Clinical Pharmacology & Therapeutics, 79(1), 1–5. https://doi.org/10.1016/j.clpt.2005.09.009
Goddard, K. A. B., Hoffman, M. A., Aufderheide, A. C., & Green, R. C. (2013). Implementing genomic medicine in the clinic: The future is here. Genetics in Medicine, 15(4), 258–267. https://doi.org/10.1038/gim.2012.122
Haga, S. B., O’Daniel, J. M., Tindall, G. M., Lipkus, I. R., & Agans, R. (2012). Survey of U.S. public attitudes toward pharmacogenetic testing. Pharmacogenomics Journal, 12(3), 197–204. https://doi.org/10.1038/tpj.2011.21
Hamilton, J. G., Abdiwahab, E., Edwards, H. M., Fang, M. L., Jdayani, A., & Breslau, E. S. (2017). Primary care providers’ cancer genetic testing-related knowledge, attitudes, and communication behaviors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), 48–69. https://doi.org/10.1002/ajmg.c.31537
Hock, R. S., Golub, J. E., & Meffert, S. M. (2016). Focused ethnographic study of patients with tuberculosis in South Africa: Knowledge, attitudes, and behaviors. BMC Public Health, 16, 77. https://doi.org/10.1186/s12889-016-2750-2
Hull, S. C., Sharp, R. R., Botkin, J. R., Brown, M., Hughes, M. T., Sugarman, J., & Wilfond, B. S. (2008). Patients’ views on identifiability of samples and informed consent for genetic research. American Journal of Bioethics, 8(10), 62–70. https://doi.org/10.1080/15265160802478558
Johnson, J. A., Bootman, J. L., Evans, W. E., & Lazarou, J. (2021). Pharmacogenomics: A primer for clinical practice. Pharmacotherapy, 41(5), 403–418. https://doi.org/10.1002/phar.2526
Kitzman, H. E., Green, L. A., & Taplin, S. H. (2019). Patient engagement in genomic medicine: A systematic review. Journal of General Internal Medicine, 34(7), 1355–1364. https://doi.org/10.1007/s11606-019-04949-2
Lemke, A. A., Bick, D., Dimmock, D., Simpson, P., & Veith, R. (2013). Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: A survey study. Clinical Genetics, 84(3), 230–236. https://doi.org/10.1111/cge.12101
McCormack, P., & Kole, A. (2013). Patients' voice and ethical considerations in personalized medicine. Personalized Medicine, 10(3), 215–219. https://doi.org/10.2217/pme.13.18
Van Driest, S. L., Shi, Y., Bowton, E. A., Schildcrout, J. S., Peterson, J. F., Denny, J. C., & Roden, D. M. (2020). Clinician and patient experiences with pharmacogenomics in routine care. Genetics in Medicine, 22(2), 304–310. https://doi.org/10.1038/s41436-019-0651-8
Yu, J. H., Harrell, T. M., Jamal, S. M., Tabor, H. K., & Bamshad, M. J. (2013). Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. American Journal of Human Genetics, 92(4), 621–628. https://doi.org/10.1016/j.ajhg.2013.03.002