Towards preventive medicine

the sequencing of the human genome was an enormous achievement in more than one sense as both the annotated sequence and the bioinformatics tools developed have become enormously important to biomedical research. in addition, the technological advances made during the project have further promoted the new ‘-omics’ approach in molecular biology research; it is a global, systematic and comprehensive way of identifying and describing the molecular processes and pathways involved in physiological functions and pathological states. Since the start of the Human genome project in 1990, its proponents have pointed out that the knowledge gained could lead to new cures or preventive measures for a wide range of diseases, as well as enormous benefits to general health. a recent white paper by the European Medical research council (Strasbourg, France) explicitly encourages the use of new -omics technologies, as well as systems biology, nanomedicine, regenerative medicine, and tissue and stem-cell banking, in order to improve clinical and medical practice (Billig et al, 2007). currently, the use of functional genomics includes methods to measure gene activity at the transcript level—differential display, expressed sequence tags, serial analysis of gene expression and microarrays—whereas new methods in proteomics help to analyse the protein content and composition of cells and tissues. these rely on instruments capable of the high throughput analysis of biological samples, which themselves generate a large amount of experimental data. this information must, in turn, be processed by powerful information systems and new computational methods to draw meaning from the primary data and generate new knowledge about molecular processes in cells and tissues. these increasingly sensitive, efficient and precise high-throughput methods and the bioinformatics tools to handle the data, have paved a path on which biologists and clinicians can meet to achieve the ultimate goal: the successful use of these discoveries for both diagnosis and therapy in daily clinical practice (table 1). indeed, the various -omics approaches—including genomics, proteomics and metabolomics—will eventually allow physicians to practice truly preventive medicine, as well as individually tailoring therapies and generally personalizing medicine. We can already see the first applications in clinical practice, as this paper discusses. Nevertheless, the financial costs of personalized medicine are still prohibitively high and there are few medical centres that are able to afford or efficiently use the technology and the information gained from it. yet, highthroughput methods have been successfully applied in various fields of clinical medicine. these methods have significantly affected patient management and the introduction of -omics in clinics has fuelled high expectations for a new era in which diagnostics will unite with therapy (Kling, 2007). the main strength of high-throughput procedures is the ability to simultaneously monitor the activity of a large number of biomolecules. as such, the technology allows physicians to assess patients individually for disease risks even before symptoms emerge. Diagnosing a disease such as cancer at a very early stage markedly improves a patient’s chances of survival and saves health-care resources spent on treatments for patients in the late stages of the disease. Moreover, functional genomics is already being applied to drug discovery with the aim of shortening and/or improving the overall process. its expanded use, together with more detailed knowledge about pathological processes at the molecular level, will probably improve drug discovery further, and hopefully lead to ‘smarter’ drugs with higher efficiencies and fewer side effects.