Genetic Testing: Catching diseases early on

Genetic testing is a type of medical test that identifies changes in chromosomes, genes and proteins. More than 1,000 genetic tests are currently in use that identify different disorders, while more continue to be developed.

Dr. Kathryn Arrambide, a medical oncologist at Rapid City Regional Hospital, says that in the future, patients could come in with their entire genome, wanting it to be sequenced in order to catch diseases. But for now, genetic testing looks at mostly diseases dealing with cancer.

“You look at the person’s genetic makeup to see whether or not may they carry genes that are more common in people who have susceptibility to cancer,” Arrambide says.

A study conducted by the Harvard T.H. Chan School of Public Health, found that 6 percent of Americans have undergone genetic testing. But Arrambide says the number of people tested is increasing, especially when it comes to certain cancers.

“It’s becoming much more common,” Arrambide says. “We are now testing pretty much every lady who presents with ovarian cancer, because we recognize that this is a fairly rare tumor but the likelihood of having an abnormal BRCA1 or 2 gene – and that’s a common gene in families with cancer – those odds are about 40 percent in ladies with ovarian cancer.”

Angelina Jolie brought genetic testing to the attention of millions when she removed her ovaries and underwent a double mastectomy to prevent the onset of breast cancer. According to NBC News, in recent years, the rates of women opting for preventative mastectomies has increased by 50 percent. But just because someone tests positive for the gene, it does not necessarily mean they will develop the disease.

Genetic testing has also become easier, with some over-the-counter tests only requiring a skin sample. But Arrambide says the tests don’t offer support after the results are determined.

“The difficulty with those over-the-counter genetic testing kits, is it doesn’t come with any counseling at all,” she says. “They tell you, ‘You may have a risk of this,’ and the question is, what do you do now?"

And while genetic testing may provide you the opportunity to see potential diseases, the results may affect you financially. Arrambide says your health insurance won’t be affected, but "if you come back with a positive test, you may have difficulty getting some life insurance because of it.”

Not all testing is necessary, especially for diseases that have no preventative measures. Arrambide says that if all there is to do is worry, it’s not worth it. However, incurable diseases, such as Alzheimer’s, could benefit from gene testing. Although there is yet to be a cure, there are preventative measures, like switching to a healthy diet. Once an individual discovers they have the gene for Alzheimer’s, they can make changes early on. 

Depending on the nature and complexity of the test, costs can range from under $100 to more than $2,000.

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Categories: Wellness Wednesdays