Molecular medicine: Prometheus unbound

Abstract

Molecular Medicine can be defined as the thorough and detailed mechanistic understanding of health and disease at the cellular and molecular level, and the application of this knowledge to the design, validation, and implementation of novel strategies to promote health and prevent, diagnose, treat, and cure disease. It capitalizes on the fruits of biomedical research, which includes all biology-based scientific research that ultimately aims at understanding and improving the human condition. The observational and descriptive approach of traditional medical investigation is being gradually complemented – and will ultimately be superseded – by a science-founded approach focused on the mechanisms that underpin health and illness. The great promise for the future of medicine lies in the application of this mechanistic approach to the design of new strategies for disease treatment and prevention. The genomic transformation of medicine (functional genomics through proteomics/metabolomics to clinomics) has already begun, but its consolidation is not likely to be easy. All stages of the new paradigm face significant problems such as the inability to define clear-cut molecular disease entities and the low positive predictive values of genetic tests. Moreover, Molecular Medicine is an expensive concept all the way from the level of research and development up to the cost of the genomic testing of individual patients. However, taken together, the anticipated decreases in the number of adverse drug reactions, the number of failed drug trials, the time necessary to facilitate a drug's approval, the length of time patients are on medication, the number of medications patients must take to find an effective therapy, the toll of a disease on the body (through early detection), and the increase in the range of possible drug targets are likely to counterbalance the cost of molecular profiling and thus promote a net decrease in the cost of health care. Therefore, pharmaceutical companies have already begun to travel this one-way road at high speed with the confidence that the results will eventually offset the cost of the investment. Decision-makers in the political field also need to be informed about the need to prioritize genome science and finance genomic research. Despite the promises of the post-genomic era, there are skeptics who suggest that the prospect of the novel – molecular – paradigm in medicine is highly optimistic. Such critics argue that, although molecular biology has contributed tremendously to our understanding of the basis of health and disease, it has yet to contribute much to the day-to-day care of patients. From their viewpoint, the distance between understanding molecular circuitries and developing clinically useful interventions is vast and may never be bridged. Being actively involved in informing and educating both the end users – physicians and patients – and the lay public about the benefits and promises of Molecular Medicine, I cannot share this frustrating pessimism. I believe that since mankind has consciously decided to embark on this bold and ambitious journey to decipher the secrets of life, sooner or later the riddles of health and disease will be solved. Insights from systems biology can have a crucial role to this end. Most cellular functions are carried out by a complex network of genes, proteins, and metabolites that interact through biochemical and physical interactions (human interactome). Discovering systematic correlations between cellular networks, environmental/lifestyle factors and disease patterns may help unveil hitherto unknown disease pathways. The characterization of molecular events involved in the onset of a pathology will not only enable us to identify new putative pharmacological targets, and hence resolve complex diseases, but also to predict an individual's health and extend the human body's natural lifespan by preventing diseases (personalized therapy). Whether this shift in the practice of medicine will translate into global relief of human suffering will probably depend on society as a whole and not only on the fruits of biomedical research. However, with sound prioritization of goals and rational allocation of resources, it should be only a matter of time until the novel paradigm of Molecular Medicine is broadly established as the ultimate standard of care. Perhaps the most challenging task in the post-genomic era will be to translate the advancements of biomedical science to an improvement of the quality of life across all members of society, which will increasingly depend on a responsible and conscious loyalty to the moral principles of the “art” of medicine.