An Introduction to Pharmacogenomics and Personalized Medicine

  • Alessio Squassina
  • Mirko Manchia
  • Christina Mitropoulou
  • George P. Patrinos
Reference work entry


Pharmacogenomics is gradually assuming an integral part in modern medical practice. The exploitation of genomic data to better predict response to medications and avoid adverse drug reactions is becoming a reality in some medical specialties (i.e., personalized medicine). The creation of an informational structured framework of genetic, phenotypic, and environmental factors might provide the health-care system with useful tools that can optimize the effectiveness of specific treatments. In this chapter, we review the most relevant applications of pharmacogenomics, together with an overview of the opportunities and bottlenecks of the implementation of genetic information in personalized medicine and of its full adoption in clinical settings.


Epidermal Growth Factor Receptor Epidermal Growth Factor Receptor Mutation Personalized Medicine Epidermal Growth Factor Receptor Gene TPMT Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Glossary of Terms

Personalized medicine

The development of tailored treatments based on the integration and implementation of clinical and molecular (genetic, transcriptomic, proteomic, and metabolomic) data.


The analysis of how genetic variation affects drug response.

Adverse drug reactions

The development of harmful reactions with the use of a specific drug.

Genetic tests

Analysis of DNA in order to detect heritable diseases.


Structured collection of data.

Economic evaluation in genomic medicine

Evaluation of the impact of genomic medicine, by identifying, measuring, valuating, and then comparing the costs and benefits of two or more alternative treatments and health technologies. Costs are measured in monetary units, and benefits are the outcome of the therapeutic interventions, which leads to the alleviation from side effects, improvement of the quality of life, and extension of life span. Such evaluation would result in making optimal health-care decisions. Some techniques of the economic evaluation are cost-effectiveness analysis and cost-utility analysis.

Cytochromes P450

This class of enzymes constitutes a family of heme-binding monooxygenases. Members of this enzyme family are involved in the metabolism of drugs and in the synthesis and/or metabolism of steroids, cholesterol, vitamin D3, and eicosanoids.



This work was partly supported by the Regional Councillorship of Health, “Regione Autonoma della Sardegna” with a grant dedicated to Drug Information and surveillance projects to AS and MM and by grants from the Golden Helix Foundation (London, UK) to GPP.


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Further Reading

  1. Arranz MJ, de Leon J (2007) Pharmacogenetics and pharmacogenomics of schizophrenia: a review of last decade of research. Mol Psychiatry 12:707–747CrossRefPubMedGoogle Scholar
  2. Collins FS (2011) The language of life: DNA and the revolution of personalized medicine. Harper Perrenial, New York, Accessible text serves as useful general introduction into the topic; comfortable reading for non-specialistsGoogle Scholar
  3. Ruano G, Bronzino JD, Peterson DR (2014) Personalized medicine: principles and practices. CRC Press, Boca Raton (preprint); Comprehensive multi-author comprehensive review of the state of the art practice of personalized medicine for specialistsGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Alessio Squassina
    • 1
  • Mirko Manchia
    • 2
    • 3
  • Christina Mitropoulou
    • 4
  • George P. Patrinos
    • 5
  1. 1.Department of Biomedical SciencesUniversity of CagliariCagliariItaly
  2. 2.Department of Public Health, Clinical and Molecular MedicineUniversity of CagliariCagliariItaly
  3. 3.Department of PharmacologyDalhousie UniversityHalifaxCanada
  4. 4.Department of Clinical Chemistry, Faculty of Medicine and Health SciencesErasmus University Medical Center RotterdamRotterdamThe Netherlands
  5. 5.Department of Pharmacy, School of Health SciencesUniversity of PatrasPatrasGreece

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