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Genetic Contributions and Personalized Medicine

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Chronic Illness Care

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Abstract

Many chronic diseases can be attributed to lifestyle choices and behaviors, environmental exposure, social determinants, and genetics. Genomic alterations can increase the risk of developing a chronic condition, and genetic susceptibility can be exacerbated by lifestyle or environment. Pharmacotherapies are available to treat chronic disorders; even when adhering to evidence-based practices, multiple treatment strategies may exist. Polymorphisms in genes that encode drug metabolizing enzymes, transporters, and targets can influence drug response and toxicity risk. Gene-based drug prescribing strategies may mitigate drug-induced toxicities and identify medications that are more likely to have efficacy. Pharmacogenetics is the study of how variations in genes encoding pharmacokinetic and pharmacodynamic proteins affect pharmacotherapy outcomes. There is a growing body of evidence demonstrating a correlation between genetic polymorphisms and aberrant drug efficacy, adverse reactions, and dosage requirements. For certain gene–drug interactions, the evidence is compelling to promote the integration of genomic medicine into clinical practice. Implementation strategies are needed to curate and disseminate genomic alterations for point-of-care decision making. Future studies will need to investigate the impact and cost-effectiveness of implementing personalized medicine in patient care.

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  1. Department of Individualized Cancer Management, Moffitt Cancer Center, Tampa, FL, USA

    J. Kevin Hicks

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    Timothy P. Daaleman

  2. Department of Family Medicine, University of North Carolina, CHAPEL HILL, NC, USA

    Margaret R. Helton

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Hicks, J.K. (2023). Genetic Contributions and Personalized Medicine. In: Daaleman, T.P., Helton, M.R. (eds) Chronic Illness Care. Springer, Cham. https://doi.org/10.1007/978-3-031-29171-5_1

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