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Pharmacogenetics and Pharmacogenomics I: Linking Diagnostic Classification to Therapeutic Decisions

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Molecular Diagnostics in Dermatology and Dermatopathology

Part of the book series: Current Clinical Pathology ((CCPATH))

Abstract

Innovations in medical therapy have been associated with increasing life expectancy, improved quality of life, and with a decreasing need for hospitalizations and surgery. However, these benefits are not achieved without significant drawbacks. Medications are not completely safe and effective for everyone. Spear et al. [1] analyzed the efficacy of major drugs used to treat several important diseases. The heterogeneity of therapeutic responses was evident, ranging from a low of 25% (for cancer chemotherapeutics) to a high of 80% (for COX-2 inhibitors), with response rates for most drugs falling in the range of 50–75% [1]. Adverse drug reactions (ADRs) represent another important problem, leading to ∼6% of hospitalizations (>2 million per year) and annual health care costs estimated at $1.5–$4 billion in the United States [2–4]. ADRs are now the fourth leading cause of mortality in the United States, resulting in >100,000 deaths per year [2–4]. Drug efficacy and toxicity are affected by a number of factors, including patient age, sex, hepatic and renal function, drug–drug interactions, diet, lifestyle, and comorbidities. Many drugs also have narrow therapeutic indices (i.e., the therapeutic dose is close to the toxic dose). In addition, DNA sequence variations are known to play a major role in the inter-individual variability of drug response and ADRs [1]. Pharmacogenomic testing could facilitate a more targeted approach to treatment, by predicting which patients are more likely to respond to a drug, as well as those at increased risk for developing an ADR [1]. The tailoring of drug therapy to the individual patient (“personalized medicine”) is an exciting possibility for clinicians.

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  1. Department of Medicine, Dermatology Division, University of Modena and Reggio Emilia, Via del Pozzo, 71, 41100, Modena, Italy

    Riccardo G. Borroni

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  1. Michael J. Murphy
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  2. Carlo Pincelli
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  3. Diane M. Hoss
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  4. Riccardo G. Borroni
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  1. Health Center, Dept. Dermatology, University of Connecticut, Farmington Ave. 263, Farmington, 06030, Connecticut, USA

    Michael J. Murphy

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Murphy, M.J., Pincelli, C., Hoss, D.M., Borroni, R.G. (2011). Pharmacogenetics and Pharmacogenomics I: Linking Diagnostic Classification to Therapeutic Decisions. In: Murphy, M. (eds) Molecular Diagnostics in Dermatology and Dermatopathology. Current Clinical Pathology. Humana Press. https://doi.org/10.1007/978-1-60761-171-4_21

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