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Genetic testing: How it works and if it's worth the money

Genetic testing: How it works and if it's worth the money

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Would you want to know whether you're going to get cancer?

There are pros and cons to both answers, but as mega-star Angelina Jolie proved, information is power.

"It sounds like her mom had ovarian cancer at a very young age, so it was certainly warranted that she had the genetic testing and it sounds like she is being proactive about it," says Stephanie Francis, a certified genetic counselor at ECU's Brody School of Medicine.

The famous actress just revealed she had a preventative double mastectomy after learning she carried a "faulty" version of the BRCA1 gene. The mutation makes a woman five times more likely to get breast cancer - a risk she wasn't willing to take.

Francis says everyone has two copies of each BRCA1 and BRCA2 gene, but says mutations are extremely rare and affect less than 1 percent of the population.

But, "If you test positive, that means you have a mutation in one of these genes and it means the lifetime risk for cancer is up to 85-87 percent."

Genetic testing is done through a simple blood or saliva sample, and while the results can be life-saving, it's expensive. Francis says it can cost up to $3,500 and is not always covered by insurance.

So, before you make the investment, she suggests scheduling an hour-long consultation with a genetic counselor to talk about your family history and determine your risk.

  "Usually families with a mutation in the BRCA1 or BRCA2 gene have a lot of people in their family who have cancer," she says. "And usually the cancer is at younger ages of onset than the general population. So those are big red flags that we look for."

If you're not willing to take the drastic step Jolie did, Francis says you can also opt to have more frequent surveillance with MRIs, mammograms and ultrasounds.

Francis says while any doctor can order genetic testing, it is ideal to go through a certified genetic counselor to ensure the appropriate test is ordered, the patient understands what the testing is for and the results are interpreted accurately.

Francis and one other genetic counselor serve all of Eastern North Carolina. You can make an appointment for a consultation at www.ecu.edu/ecuphysicians or by calling 252-744-1111.





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