Wednesday, January 30, 2013

OPINION ON GENETIC TESTING

As our knowledge keep expanding, it is fair to suggest that Knowledge of Driver Mutation makes a difference in our patients particularly in instances where we have an effective inhibitor.  The frequency of the Mutation has been a frustrating basis for intervention since the high rate of an eventual mutation could be linked to its early occurrence in the cancerous transformation.  Giving a value in early detection with no effect on the outcome.
Dividing genetic abnormality in those of proliferation, those involved in amplification, and those of differentiation, those pointing to metastasis and finally those for survival, could prove useful.
It is not enough to know that P53 is amplified if it is not mutated. The reason for the amplification needs to be clarified by a comprehensive view of the ensemble of genetic change panel.

In many instances, our view of the events in a cell is frustratingly narrow.  Reading on Uterine cancer today I found out that Uterine cancer is divided in endometrioid and non Endometrioid.  I learned that 83% of endometrioid cancer have a PTEN depression or mutation abnormality.  This is thought to be an early event.  Meaning it may not matter that much in the outcome of our patient and MTOR inhibition turned out to have a mild effect.       On the non endometrioid cancer very little is said.  We know it is most of the time coming from an Atrophic mucosa, what this means at molecular level, lack of stimulation by Estrogen, Receptor insensitivity, a panoramic gene testing is needed to find a useful answer.  So it seems to us that any genetic testing report should tell us the state of gene alteration in each group of cellular functions to be useful.

In some tissue such has sarcoma, brain, (Melanoma) knowing the EGFR or VGEF amplification only appears a partial issue.  What is the status of gene of differentiation, and other genes.  Until we have a comprehensive panel for each cell type, our effort will not progress for the cure.   The flurry of progress in lung cancer came from a consistent panel reporting of genes mutation and drivers at one Institution (Harvard).  This is the way to go! WE GOT TO RAISE THE BAR.

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