When scientists cracked our genetic code back in 2003 by mapping the human genome, it opened up a new world of possibilities for patients who had been searching for answers to their medical mysteries. Patients like 30-year-old Denis Keegan of Ohio.
Keegan was "suffering from kidney disease." That much his doctors back home in Ohio knew. What they didn't know, however, was why, according to the Star Tribune. And that's when Keegan says he turned to Mayo Clinic, and genetic testing.
At Mayo, doctors extracted Keegan's DNA and used what they found to examine his genome. And it was there, embedded deep within his genetic code, that doctors found it: a single mutant gene that was the cause of his kidney problems. It was a finding that led to a diagnosis: fibronectin glomerulopathy, an "extremely rare kidney disorder."
After finding out what they were dealing with, Keegan's doctors at Mayo were better able to develop a customized treatment plan. "It was really reassuring," Keegan says of his diagnosis.
Genetic testing can also help determine the best course of treatment once a disease has been identified, as Alexander Parker, Ph.D., associate director of Mayo's Center for Individualized Medicine, tells the newspaper. Dr. Parker points to the example of "a 44-year-old woman with gall bladder cancer" whose tumor "was not responding" to typical gall bladder medications or treatments. With the help of genetic testing, doctors at Mayo discovered that medications usually reserved for leukemia patients might also work for her. And they were right, Dr. Parker tells the newspaper. "They tried it, and her tumor started to shrink."
In addition to helping diagnose and treat certain diseases, genetic testing "also can be used to determine if a person is a carrier of a genetic disease," along with the risk of passing on that disease to descendants. As such, Dr. Parker tells the Strib, having it done may not be for everyone. "At the end of the day, this is about risk," he says. "While we all want definitive answers to everything, the beautiful thing about our world is that there is random chance. Because of that, we can never say 100 percent that we know exactly what will happen to anyone."
And that's why Dr. Parker says he "encourages those curious about genetic testing" to first have a talk with their primary care physician to see if it's really worth doing.
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