With genetic testing, patients can see the future

  • Article by: ALLIE SHAH , Star Tribune
  • Updated: January 20, 2014 - 9:06 AM

Genetic testing brings sci-fi to real life for patients seeking answers to their ailments. But do you really want to know?

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Denis Keegan was out of answers.

The 30-year-old was suffering from kidney disease, but his doctors were struggling to pinpoint the cause. That’s when Keegan turned to genetic testing.

Doctors at the Mayo Clinic in Rochester extracted his DNA from a blood sample and examined his genome. There, embedded in his genetic code, they discovered the source of his kidney problems — a mutant gene. The finding led them, at last, to a diagnosis: fibronectin glomerulopathy, an extremely rare kidney disorder. Armed with that knowledge, his doctors were able to tailor treatment for the condition.

“It was really reassuring,” said Keegan, 30.

The human genome was mapped in 2003, revealing for the first time the entire genetic makeup of our bodies. Since then, genetic testing has become a booming industry — and an option for patients, such as Keegan, to learn more about their bodies’ internal mysteries.

Advancements in the testing are coming rapidly, slashing the price and time it takes to get results. Just as the X-ray machine made it possible to peer inside the human body, genetic testing is changing the way we diagnose and treat diseases.

Testing is available through your doctor, or increasingly via direct-to-consumer kits that can be ordered online or purchased at a drugstore. By the end of the decade, Americans are expected to spend as much as $25 billion a year on genetic tests for everything from diagnosing types of kidney diseases to determining breast cancer risk to screening prenatal health, according to United­Health.

But for some patients, genetic testing represents a Pandora’s box that, if opened, could cause needless anxiety among healthy people or sow discord in families if one member’s test reveals troubling findings about the family’s genetic makeup.

“In terms of how we apply it to our health, that’s where the door has just been opened,” said Melissa Truelson, a certified genetic counselor at the University of Minnesota Medical Center, Fairview.

To help navigate this brave new world, we turned to those on the front lines of this fast-evolving medical technology:

What is genetic testing?

Genetic testing typically involves looking at a person’s genes or chromosomes to help prevent, diagnose or treat a disease. It also can be used to determine if a person is a carrier of a genetic disease and if there is a risk of passing it on to their children. Most often, the testing begins with DNA collected from a blood sample, but many labs also can get DNA from a person’s saliva.

Genetic testing jumped into the spotlight last year when Angelina Jolie, whose genetic test revealed a high risk of developing breast cancer, chose to undergo a double mastectomy in the hopes of preventing the disease.

“Everything our body does functions off of genes,” Truelson explained. “When you think about diseases, many of them have an underlying genetic or inherited basis to them.”

How much does it cost, and does insurance cover it?

The cost varies widely, from $99 at-home kits (such as the controversial 23andMe) to thousands of dollars for tests conducted at hospitals and clinics. Pricing also varies depending on what you are testing for, such as a newborn screening or colon cancer.

Insurance coverage also is dictated by the kind of testing and the individual’s plan. Typically, insurance companies will cover tests that are ordered by doctors and usually involve diagnosing a disease. Patients who have a significant family history with a particular disease tend to receive coverage.

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