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Direct Consumer Genome Testing

It was not long ago in medical history that Gregor Mendel had his pea patch and documented genetic translation of pea size and pea flower color. Now, you can take out your credit card and use a company to give you a personalized genome-wide disease risk profiling of your health. Is this the way medicine is heading and will we all come to know what diseases we are currently prone to?

There are a number of skeptics to this idea. There are a great many concerns about the clinical utility, validity and marketing claims of these commercially available direct to consumer test kits. They have been evaluated by doctors, scientists, and various government agencies, including the US FDA. These items are as yet completely unregulated and test kits may not be completely accurate. Some test kits claim to provide information as to a person’s risk of up to forty genetic diseases. The real question is, does knowing this information change an individual’s behavior so as to improve their health? Or will it just leave the person depressed and anxious over their fate?

Some doctors have attempted to get at the root of these tests to see whether or not they are beneficial and have any validity in detecting the risk for disease. There was a study of 4891 subjects who volunteered by purchasing a kit and completing a survey before taking the test. Only about 42 percent of patients followed up with the doctors after about three months of follow up. The anxiety of level of the patients did not change following the tests and there was no change in the dietary fat level or the exercise level of the patients who were tested. The patients were evaluated for almost six months. No one had any increase in stress in finding out their risk for disease (97 percent, to be exact). The severity of distress was related to the estimated lifetime risk of a particular condition. There was no change in the actual number of screening tests done but there was an increase in the intent to have screening tests done in the future.

What this means is that knowing one’s genetic risk for disease did not appreciably affect the individual’s psychological health, behavior or clinical effects. Most patients were unaffected by the screening. Even the idea of intending to follow up on screening tests had very little value to the patient’s health. Some testing yielded false positive testing, which led to invasive tests that did not locate an actual disease.

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