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EELS (Ethical, Economic, Legal & Social) Article

Pharmacogenomics in drug development: societal and technical aspects

The Pharmacogenomics Journal volume 4, pages 226–232 (2004)Cite this article

Every presentation at a pharmaceutical company of a drug development project, and, in the past 10 years, every grant application for public funds in the area of biomedical sciences, starts with a litany of diseases that may be treated if the proposed projects are supported and successful. In most, if not all, of these proposals the genetics of the affected population and the pharmacology of current and prospective treatment is a major component for consideration. In this sense, pharmacogenomics has always been part of decision-making and project selection in drug development. The practice of complementing epidemiologic, diagnostic and treatment-rate data with pharmacogenetics data was introduced in the 1950s, and the term pharmacogenetics was coined by Motulsky in 1957.1 Motulsky wrote, ‘Genetically controlled drug reactions not only are of practical significance, but may be considered pertinent models for demonstrating the interaction of heredity and environment in the pathogenesis of disease,’ much in tune with Vogel's article in 19592 and Haldane's classic book: The Biochemistry of Genetics.3

Now, 45 years later, after the completion of the Human Genome Project and the massive application of microarray and other molecular genetic techniques, this field of pharmacogenetics has been renamed, and partially refocused, as the growing field of pharmacogenomics. The current definition has been adopted by numerous government-sponsored workshops on both sides of the Atlantic, defining pharmacogenomics as ‘the molecular study of genetic factors that determine drug efficacy and toxicity.’ The emergent definition followed from, and was followed by, a flow of ideas, talent and capital (ca. $20 billion over the past 6 years) into the use of pharmacogenomics in clinical trials and in preclinical drug discovery. The impact of these efforts on drug discovery process and pipelines has been much discussed in terms of return on investment.

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Acknowledgements

The author is indebted to friends and colleagues who have urged clarity of argument and language rather than political correctness and who were willing to spend significant time with early drafts and made major suggestions; Peter Aranyi, Ernest Beutler, Graham V Lees, Sabine Hankel—the faults are all mine.

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  1. Department of Neuropharmacology, Harold L Dorris Neurological Research Center, The Scripps Research Institute, La Jolla, CA, USA

    T Bartfai

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Correspondence to T Bartfai.

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DUALITY OF INTEREST

The author is not a shareholder, not employed by or consultant to any company in the specific area of Pharmacogenomics. The author is a general scientific consultant in Pharma/Biotech Industry where companies utilize many sources of information including linkage, SNP, etc…, studies. There is no direct economical link by the author to the benefit of such pharmacogenomics type studies may provide.

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Bartfai, T. Pharmacogenomics in drug development: societal and technical aspects. Pharmacogenomics J 4, 226–232 (2004). https://doi.org/10.1038/sj.tpj.6500249

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