The problems with genetic testing

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The problems with genetic testing

by Gdpawel on Sat Dec 06, 2008 12:00 AM

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One of the problems with genetic tests is in evaluating the data which exists to validate the predictive accuracy of them. Generally, a large number of archival specimens are batch processed together, within a very narrow time frame, by the same research team, so all the technical variables are minimized, which makes it much easier to get good results than in a "real world" setting, where specimens are tested over a period of weeks, months, years, by different people, with different laboratory reagents, as occurs in the "real world."

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Evaluating "real world" data, requires specimens that are tested as they are logged into the lab in question, in "real time." No one is publishing "real world" studies, except private laboratories performing cell-based tests, which can only do "real world" studies, because their studies require fresh, viable specimen, which must be accessioned and tested in "real time," under "real world" conditions.

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Tests to identify molecular predisposing mechanisms still does not guarentee that a drug will be effective for an individual patient. Nor can they, for any patient or even large groups of patients, discriminate the potential for clinical activity among different agents of the same class. All the gene mutation or amplification studies can tell us is whether or not the cells are potentially susceptible to a mechanism of attack. They don't tell you if one drug is better or worse than some other drug which may target a particular pathway.
 
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It would be more advantageous to sort out what's the best "profile" in terms of which patients benefit from this drug or that drug. Can they be combined? What's the proper way to work with all the new drugs? If a drug works extremely well for a certain percentage of cancer patients, identify which ones and "personalize" their treatment. If one drug or another is working for some patients then obviously there are others who would also benefit. But, what's good for the group (population studies) may not be good for the individual.
 
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It may be very important to zero in on different genes and proteins. However, when actually taking the "targeted" drugs, do the drugs even enter the cancer cell? Once entered, does it immediately get metabolized or pumped out, or does it accumulate? In other words, will it work for every patient?
 
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All the validations of this gene or that protein provides us with a variety of sophisticated techniques to provide new insights into the tumorigenic process, but if the "targeted" drug either won't "get in" in the first place or if it gets pumped out/extruded or if it gets immediately metabolized inside the cell, it just isn't going to work.

RE: The problems with genetic testing

by Trishpm on Wed Jul 15, 2009 12:00 AM

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Also, research continues on genetic causes of cancer.  Genetic tests only screen for mutations that are already known.  If you have a cancer pattern in your family that does not have a discovered cause, it does not mean the the cancer is not hereditary, just that it is not one of the known mutations that can be tested for. 
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