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Why Molecular Diagnostics Are Important

Molecular Diagnostics

Why Molecular Diagnostics Are Important

The medical community has recognized the importance of molecular diagnostics for several decades, and this field is especially important to cancer care. Molecular diagnostics has already improved cancer diagnosis and treatment techniques for some cancers, and research is continuing on others.

Potential uses of molecular diagnostics:
 
 
Image courtesy of Diagno Cure

The image above shows the many areas in which molecular diagnostics may be used. This spans the entire scope of cancer care, beginning with risk assessment and moving through to surveillance after diagnosis and treatment.

Clinical implementation of molecular diagnostics

Even though the incidence of cancer and the number of cancer deaths remain high, novel cancer molecular diagnostics are allowing physicians and pathologists to diagnose cancers more accurately, identify subgroups, and select targeted and individualized treatment regimens.

Although the traditional pathological examination of cancer remains an essential clinical tool, newer technologies such as microarrays, RT-PCR, mass spectrometric proteomic analyses, and protein chips are being used more often, although not yet routinely used everywhere or for all cancer types.

By evaluating patterns and changes in genes, researchers have discovered that cancers named according to the organ in which the cancerous cells reside are in fact many different types of cancer.

Studies have shown that what had been considered a single type of cancer based on how the cells appear under a microscope, can be two, three, or even more subtypes, each with a distinct molecular signature (expression) pattern. This may mean that each subtype needs to be treated differently.



 
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Some examples of how molecular diagnostics is used

Example One: Grouping patients based on their molecular signatures - Lung Cancer

Using microarrays, researchers discovered that the most common type of lung cancer, called lung adenocarcinoma, is actually several distinct types of cancer, each with its own gene signature pattern. Having the ability to distinguish these signatures is crucial information, as each responds most effectively to different treatments.

 
 
 
Image courtesy of the National Cancer Institute

As you can see from the image above, a gene chip can identify distinct types of lung cancer. This may explain why in the past some lung cancer patients responded to a specific treatment while others did not. One drug does not fit all.

 

Example Two: Modify the dose of a drug, based on your molecular profile:

 
  Today, a drug dose may be determined by a number of factors, including using body height and weight. But research is finding that a person’s molecular profile may be a better predictor of how much of a drug a patient requires to receive benefit with minimal side effects.  
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Example Three: Identify which patients will benefit from a specific drug
and those who are at risk for adverse reactions:

Pharmacogenetics is a science that examines the inherited variations in genes that determine drug metabolism and response.3

Using this strategy will help to identify which patients will not benefit from a specific medication and/or who are at risk for serious drug reactions, providing crucial information on proper treatment for each individual.

       
  This image demonstrates how molecular diagnostics can help to identify individuals with the same diagnosis who will benefit most from a specific medication and those who should receive alternative treatment.  
       
Image courtesy of The National Cancer Institute      

 

Example Four: Use molecular diagnostics to guide treatment decisions:

Gene predictor formulas may be better than current methods in identifying patients with poor prognoses. If patients predicted to have poor outcomes can be accurately identified early, their treatment may be appropriately altered. See image below:

   
 
 
Image courtesy of The National Cancer Institute

 

 

“Content Developed September 1, 2012”

 

 
   
 
 
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