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.

• Legal notice:
  

  Copyright (c) Pielaszek Research, all rights reserved.
  The above materials, including auxiliary resources, are subject to Publisher's copyright and the Author(s) intellectual rights. Without limiting Author(s) rights under respective Copyright Transfer Agreement, no part of the above documents may be reproduced without the express written permission of Pielaszek Research, the Publisher. Express permission from the Author(s) is required to use the above materials for academic purposes, such as lectures or scientific presentations.
  In every case, proper references including Author(s) name(s) and URL of this webpage: https://science24.com/paper/25431 must be provided.

1. Cancer genome: perspectives for the practical use of next-generation sequencing
2. Integrative genomics - an essential tool for development of molecular medicine
3. STRENGTHS AND LIMITATIONS OF INTEGRATIVE GENOMICS EXEMPLIFIED BY STUDIES OF BARRETT'S ESOPHAGUS
4. Współczesna gastroenterologia w aspekcie badań molekularnych i genetycznych - teraźniejszość i przyszłość
5. Hemochromatoza wrodzona - pilotowe badanie oceny częstości występowania w wyselekcjonowanej populacji