Dr. Anna Berry, CellNetix Director of Molecular Pathology
"Unlike some molecular diagnostic companies, at CellNetix we involve pathologists in every step of the process. We believe this extra professional attention can make a significant difference in quality and accuracy"
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For more than 100 years pathologists have been using microscopes to look at abnormal tissue and cells to better diagnose disease. Today, we are evolving beyond cellular examination to identify the root cause of these abnormalities within the genetic material of the cell itself. The mapping of the human genome has driven growth in molecular testing, which now allows laboratories to analyze tumor tissue and other specimens to determine likelihood of recurrence, source of disease and the best types of therapies to be used. Increased attention is being paid to “personalized medicine,” which targets therapies to individual genetic signatures or profiles. These "targeted therapies" represent the most promising advance in cancer treatment yet.
What is Molecular and Genetic Testing?
Molecular genetic testing spans the entire spectrum from the characterization of cell biology, protein expression and chromosomal rearrangements to the resolution of single abnormalities in the DNA template. Infectious agents can be identified by virtue of unique DNA/RNA sequences. Molecular testing is used not only in diagnosis, but also in monitoring for the effectiveness of therapy and detection of residual disease in various malignancies. Molecular techniques can also predict the effectiveness of some important medications as well as identify specific targets in individual patients' tumors for new therapeutic modalities ("personalized medicine"). Molecular testing utilizes sensitive tools that often confirm ambiguous diagnoses suspected by microscopic evaluation, guide therapeutic decisions and assess. For example, the advent of new treatments for certain breast cancers depends on identification of a gene that is amplified and over-expressed in those cancers; the specific gene that is amplified can only be identified by molecular testing.
Molecular testing has impacted clinical practice quite dramatically. Genetic tests are now available for more than 1,700 diseases, up from 1,250 in 2005.1 Interpretation of slides under the microscope remains the basis of anatomic pathology. However, an expanding menu of molecular tests now complements traditional pathology methods.Molecular tests are rapid, sensitive and specific and can be performed on almost all specimen types.