Diagnostics in medicine

Early diagnosis can change the course of your illness

Certain illnesses are being diagnosed and treated in earlier and earlier stages. That is, of course, a good thing but it does change the way in which people perceive illness, or their health.
These days it is possible to discover, via blood tests, whether people have genes which indicate that they have a greater than normal risk of contracting breast cancer. In other words, if a certain gene is discovered women have a fifty to eighty percent chance of developing breast cancer at some stage.
image“I have researched the effect that this has on women”, explains Dr. Marianne Boenink. “Through the clinical genetics centre I contacted women who were entertaining notions of partaking in such a test. I spoke to all of them before they went to a geneticist and afterwards I followed them throughout the process. The test was incomplete which meant that the test results were inconclusive. Such women can therefore gain more certainty by asking a female family member who has had breast cancer to also have such a test done.”
“That final point turned out to be a stumbling block. Women find it difficult to broach family members on such matters and when eventually they do that family member invariably does not want to comply. Before doing such tests medical people must therefore carefully think about the consequences both during the test and when the results are made known. If the responsible gene is identified must one subsequently undergo frequent tests? When is the best time to have a preventative mastectomy?”
It is precisely because genetic tests provide such little certainty, lifestyle and environment are major factors in determining whether such genetic influences are triggered, that Boenink has noticed a shift towards a preference for molecular testing. By means of such tests increased protein levels can be measured in the blood, all of which may well indicate that such an illness is in its early stages. Scientists suspect that similarly the first signs of Alzheimer’s can be detected fifteen to twenty years before the disease actually manifests itself.
“But there is nothing we can yet do to prevent Alzheimer’s disease so does one really want to possess such information?” Boenink queries. “The argument then often used by physicians is that by researching such matters one can gain more knowledge so that the disease might one day be possible to treat. Whichever way you look at it, the elderly still have to be asked what importance they attach to possessing such information.” Boenink advocates that we should view illness in a broader perspective. In the case of Alzheimer’s, for instance, it is known that placing greater emphasis on cognitive skills only makes the illness “worse”. In that way people who have the disease thus start to suffer from it even more. Paying such great attention to diagnosis is all very well but what, in the meantime, is going on with conventional patient care?”
“The availability of early diagnosis also gives rise to new social questions”, Boenink remarks. “Who must be tested for Alzheimer’s, the whole population or just those with a genetic predisposition? If the last case applies then two uncertain methods are automatically conflated. And who should offer the test: the GP, the neurologist, the radiologist? or may companies also directly provide the test to users via internet?”
In future all the dilemmas surrounding diagnosis will only increase. Acceptable levels of certain proteins are currently established on the basis of entire population averages but if, for instance, people start to have chips implanted then their important protein levels will be continually monitored so that individual deviations from the norm can be detected. Whereas for one individual a certain result may mean that they are ill, for another it may be nothing strange, at least that is what one hopes. “Everyone will thus get his own diagnosis but will also become his own particular guinea pig.”

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