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Selections from 'Current Pharmacogenomics and Personalized Medicine'
Professor Vural Ozdemir, Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Canada

Dear Reader,

The Current Pharmacogenomics and Personalized Medicine (CPPM: June 2010 issue features eight papers that address:

  • Epigenetic epidemiology and human methylome variation,
  • Science communication on genome-based personalized medicine in Asia-Pacific,
  • Septomics – i.e., convergence of large scale biology and sepsis research,
  • Systems pathology and applications in prostate cancer,
  • Original research on a nation-wide survey on attitudes towards pharmacogenomics research and a DNA bank in Japan,
  • Stent thrombosis and personalizing clopidogrel therapy,
  • Pharmacogenomics in forensic medicine,
  • A comprehensive inventory of human genetic variation in Phase 2 drug metabolism (specifically, glucuronidation) by UDP-glucuronosyltransferases.

CPPM is a multidisciplinary integrated forum addressing both pharmacogenomics and personalized medicine [1]. The Journal aims to address the previously unmet needs in the literature, for example, by moving beyond the artificial compartmentalization of biomarkers and knowledge across health technologies and disciplinary silos. Articles in the CPPM June 2010 issue draw from international expertise in the field and attest to the increasingly globalized nature of pharmacogenomics and personalized medicine research, and the diverse technologies and stakeholders that collectively drive this rapidly evolving knowledge frontier in biomedicine.

The following is a synopsis of the articles presented in the June 2010 issue of the Journal. This account is preceded by a brief historical context on pharmacogenomics and personalized medicine to better appreciate and situate these advances in a broader longitudinal context. We cannot fully understand the present, nor anticipate the future, without a firm grasp of the past.

Pharmacogenomics and Personalized Medicine: Past, Present and Future

Pharmacogenomics is a term introduced in late 1990s and is broadly defined as the study of variability in drug safety and efficacy using information from the entire genome of a patient. The origins of pharmacogenomics, however, date to 1950s when monogenic variations in drug metabolism and pharmacokinetics were the primary focus of research. Some suggest that the field of pharmacogenomics and personalized medicine is rooted in the early observations of Pythagoras in Croton (Calabria region), Italy in 510 BCE [2, 3]. Pythagoras has noted that the ingestion of fava beans resulted in a potentially fatal reaction in some, but not all, individuals. The scientific basis of this adverse reaction to food, that is, favism, was the inherited deficiency of glucose-6-phosphate dehydrogenase [4], one of the early documented accounts of metabolic genetic polymorphism.

Today, pharmacogenomics and personalized medicine demand expertise not only in genomics but also a deep understanding of the cross-cutting issues (e.g., social, ethical, legal and economic) emerging from biotechnology applications in healthcare towards personalized medicine [1]. Moreover, past innovation frameworks in genomics based on “one genome per person” are being contested [5]. As noted by Kato and colleagues [6], a conceptual shift is now taking place with the introduction of the Human Microbiome Project [7] that aims to characterize the genomes of the millions of microbacteria that cohabit within each person -- human body is cohabited by at least 10 times more microorganisms (e.g., on the skin and intestinal lumen) than the number of human cells in the body. A sole focus on the human genome might inadvertently miss out valuable information on such ecosystems in which drugs and other health interventions produce their highly variable effects on the human body. This broader outlook is essential for understanding the genome-environment interactions, a core element of the personalized medicine research agenda.

Globalization of genomics research brings about further complexities and opportunities on the critical path to personalized medicine [1, 8-11]. Technical capacity for high throughput sequencing of the genomes indeed increased enormously [5], including in low and middle income countries (LMICs). It can be anticipated that a sizable portion of the future discoveries in the postgenomics era will be made by researchers in LMICs. On the other hand, data analytical frameworks and appropriately trained interdisciplinary personnel who can interpret genomics data in a manner that is biologically and clinically meaningful are still scarce. Even more challenging is how best to evaluate emerging genomics data through the lens of global public/population health while responsibly anticipating and addressing the attendant social, ethical and policy issues [12, 13]. Hence, credible science communication and provision of impartial evidence on genomic applications are some of the most important elements of the agenda in personalized medicine in the postgenomics era [1, 6, 12-14]. To these ends, the following eight papers in the CPPM June issue make a timely contribution to the literature on pharmacogenomics and personalized medicine.

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