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Molecular medicine - Facts and myths

Jerzy Ostrowski 

Centrum Medyczne Kształcenia Podyplomowego (CMKP), Marymoncka 99, Warszawa 01-813, Poland
Centrum Onkologii - Instytut im. M. Skłodowskiej-Curie, Klinika Gastroenterologii Onkologicznej, Roentgena 5, Warszawa 02-781, Poland


The diagnosis and classification of a disease are limited by the diagnostic methods. Current medicine defines symptoms mostly as disturbances related to the state of classical physiology and employs diagnostics which is mostly based on anatomic/microscopic imaging and basic biochemical tests. However, individual susceptibility to disease is based on genetic variance, which determines the patient’s defense and adaptive mechanisms against environmental factors, particularly on the molecular level. Consequently, diseases arise from the sum of the cell-specific, developmental-stage-specific, and metabolism-related changes in gene expression, leading to alterations of cellular signaling and regulatory pathways. Thus, understanding the molecular mechanisms of diseases requires the introduction of molecular diagnostics into medical practice.

Implementation of highly efficient molecular imaging methods on a genomic scale (such as next-generation sequencing, functional  genomics, transcriptomics and metabolomics) to medical practice will allow the creation of molecular medicine, so called because of the research methodology and methods of disease imaging. In a consequence, molecular medicine might personalize disease prevention, diagnosis, and treatment that, in turn, would increase therapeutic efficacy and lower costs of the health care system. However, although with the introduction of high-throughput nanotechnologies, molecular biology came to the point of nearly unlimited resources on cell status, characteristics of data acquisition still resemble the taking of a single photo as opposed to a fast evolving movie. Current medicine is limited to elements of molecular diagnostics, usually on the scale of individual genes. In a consequence, the ready availability of current molecular methods enable molecular diagnostics and genetic counseling rather for monogenic disorders. On the other hand, molecular diagnostic of complex diseases is a much greater challenge, largely due to the limited number of established guidelines or procedures that determine the impact of a cumulative result of these “weak” genetic alterations and a set of environmental expositions on humans over the span of a lifetime.

Although many years have passed from the announcement of the first assembly of the human genome sequence, current clinical practice is hardly affected by the knowledge of the sequence of the human genome itself. The lecture will present the possibilities and limitations of modern molecular diagnostics in relation to expectations and doubts raised by the concept of the molecular medicine.


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Related papers

Presentation: Invited oral at VIII Multidyscyplinarna Konferencja Nauki o Leku, by Jerzy Ostrowski
See On-line Journal of VIII Multidyscyplinarna Konferencja Nauki o Leku

Submitted: 2012-02-28 14:32
Revised:   2012-02-28 14:32