The impact of pharmacogenetics and pharmacogenomics
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The impact of pharmacogenetics and pharmacogenomics Klaus Lindpaintner Date received (in revised form): 6th March, 2003
Abstract
Keywords: pharmacogenetic, pharmacogenomic, drug discovery, bioethics
Pharmacogenetics is widely proclaimed as about to revolutionise the face of medicine. In a more realistic assessment, the implementation of molecular genetics and biology will continue to provide, as it has done already, better ways to diagnose and treat illnesses, but it will do so at a steady and evolutionary pace based on an improved understanding of the nature of disease, allowing more specific treatments, better risk prediction, and the implementation of preventive strategies. As such, future progress in biomedicine will travel the same welltrodden paths of improved differential diagnosis and risk prediction along which it has advanced over the past decades and centuries. So, while meaningful biomedical research today depends, by and large, on the use of the newly developed tools of genetics and genomics, and the insights gained through them, it is unlikely to fundamentally change the direction of medical progress.
INTRODUCTION
Klaus Lindpaintner, MD, MPH VP Research, Director, Roche Genetics, F. Hoffmann-La Roche, Bldg 93/532, CH-4070 Basel, Switzerland Tel: +41 61 688 0254 Fax: +41 61 688 1929 E-mail: [email protected]
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The advances made over the past 30 years in molecular biology, molecular genetics and genomics, and the development and refinement of associated methods and technologies, have had a major impact on our understanding of biology, including the action of drugs and other biologically active xenobiotics. The tools that have been developed to allow these advances, and the knowledge of fundamental principles underlying cellular function thus derived, have become quintessential and indeed indispensable for all areas of biological research, including future progress in biomedicine and healthcare. It is important to realise that – with regard to pharmacology and drug discovery – these accomplishments have led gradually, and starting sometime in the last third or quarter of the last century, to a rather fundamental shift from the ‘chemical paradigm’ to a ‘biological paradigm’. Previously, medicinal chemistry drove new developments in drug discovery, with biology almost an ancillary service that examined new molecules for biological function, Now,
biology, based on a new-found understanding of physiological effects of biomolecules and pathways, has now taken the lead, requesting from the chemist compounds that modulate the function of these biomolecules or pathways, with a – at least theoretically – predictable functional impact in the setting of integrated physiology. One particular aspect from the broad scope across which progress in biology has been achieved, namely our understanding of genetics, and, especially, our cataloguing of genome sequences, has uniquely captured the imagination of both scientists and the public. Although understandable given the austere beauty of Mendel’s laws,
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