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If it were not for the great variability among individuals, Medicine might be a Science, not an Art. This statement by Sir William Osler (The Principles and Practice of Medicine, 1892) is as topical now as it was over a hundred years ago. For it remains true that drugs sometimes work as intended but sometimes do not, that one patient will tolerate a drug but another will not and that drugs sometimes have serious side effects. These differences are due at least in part to our genes, the genetic material that makes each of us unique and that consequently makes each of us react differently to drugs.

Genetics, genomics, proteomics and other branches of modern biology can help us to understand the medical consequences of these differences, and in fact have already led to the identification of many genetic factors that influence the action of drugs – whether this be by affecting the way in which the body deals with a drug or by influencing the course of the disease concerned. And a new scientific discipline – pharmacogenomics – that deals specifically with the relationships between our genome and the effects of drugs has now appeared.At the same time, increasing attention is now being paid to the principal targets of drugs, namely proteins. Here again, a new branch of science has appeared, namely proteomics, the study of the totality of, and the complex interrelationships between, the proteins of an organism. Thus, as well as learning more about the genetic information that provides the blueprint for the production of proteins, we are building up an ever more detailed picture of bodily function and malfunction at the molecular level. Acquisition of an understanding of the interplay between hereditary and nonhereditary factors in patients is an essential step on the way to better targeted, more personalised therapy.

An important precondition for this has now been satisfied in that for the first time in the history of medicine, diagnosis and
therapy are meeting on common ground. Thanks to the new field of molecular diagnostics, both diagnosis and therapy are now focused on the network of genes, proteins and other substances that exist in the human body.

This is leading to the development of completely new ways of understanding, detecting, preventing and specifically combating diseases. Applications of molecular biology are in fact now leading to the development of a new approach to diagnosis and therapy known as molecular medicine.

Grouped around this term are a multiplicity of modern research techniques and disciplines. These include, in equal measure, pharmacogenomics, the search for new drug targets, proteome research, the search for small but important genetic differences known as SNPs, new techniques such as the PCR and DNA chips, and bioethics.

At many events held over the past few years, Roche has attempted to cast light on current developments in medicine and to explain the scientific background and potential implications of these developments.

This publication is intended to supplement that information and to introduce the reader to the most important terms used in the new field of molecular medicine.

It can help to improve understanding of current developments and can form a basis for the public debate that is being conducted at present about the uses of genetics and genomics in medicine.

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