Genetic Profiling: Special Report Looks At How DNA Advancements Figure Into Health Decisions

By Jeff Neumeyer

February 19, 2014 Updated Feb 19, 2014 at 7:28 PM EDT

FORT WAYNE, Ind. (21ALIVE) --- If you could peer into a crystal ball and see a frightening disease in your future, would you want to know?

Advances in DNA analysis can provide new insight about your health, athletic performance, and even potential for developing certain diseases.

It's a subject we explore in a special report on genetic profiling.

We’re just beginning to crack the genetic code, but it’s like the crystal ball is covered with frosted glass.

Yet, as we learn more, the connection between heredity and health drops some tough decisions in our laps.

The movie "Decoding Annie Parker" details the struggle of geneticist Mary Claire King in convincing the medical community that gene mutations are responsible for many breast and ovarian cancers.

It's a reality that has changed the life of Alison Chestovich.

The Indianapolis woman in 2004 developed a lump in her breast.

“I was diagnosed the day before my 29th birthday, so happy birthday to me. It was a total shock," said Chestovich, who underwent chemotherapy, radiation and a lumpectomy to get a clean bill of health.

But despite no family history of cancer, she took a co-worker's advice and submitted to DNA testing.

It revealed she was positive for BRCA 2, a gene mutation putting her risk for developing breast cancer again at 85 percent.

It left her feeling different in a bad way.

"I had this thing, this secret flaw that, okay, you couldn't see it on the outside, but I carried it with me, it was a huge weight."

She made an agonizing decision to have a double mastectomy, and undergo breast re-construction, without sign that any cancer had come back.

" By the time they discover it, it's almost too late, and like that was with my mom, from discovery to death, was less than 6 months," said Jamie Jentgen, a Fort Wayne woman who 18 months ago suffered heartache twice over.

Her mom died of a rare form of ovarian cancer.

She grieved, and then confronted the fact the killer could be lurking in her own genes.

She sought out genetic counseling.

A thorough family medical review gave her confidence to say "no" to DNA testing.

She's gotten some peace of mind, and is happy not to know if she's inherited a gene mutation for ovarian cancer.

"If you get back, yes, I'm a positive carrier for one of these genes, and then there are big decisions to make too. So, what do you do with that information? It's almost like sometimes knowledge is great and sometimes ignorance is kind of great too," Jentgen said.

The field of genetics is, of course, making a big difference in cancer, but it's also guiding health decision-making in other areas as well.

On staff with Parkview Health is genetic counselor Melissa Dempsey, who will routinely sit down and talk with parents about a hereditary disease that might pop up in one of their children's lives, and what those parents need to know in dealing with the problem.

There are big advancements in what's called Pharmaco-genetics, involving someone's reactions to certain drugs.

"It would be a panel of markers that you would test for that says, hey, I should not ever take Warfarin in my lifetime, because Warfarin is going to be bad for me, or if I get prescribed this other medication they need to use a really high dose or it's not going to work," Dempsey said.

A main point Dempsey wants to drive home is that she often recommends no testing is necessary.

Chestovich, who now heads up an Indiana breast cancer support agency, wouldn't turn back the clock on her genetic profiling.

"I don't regret it. Is it a burden, yes. But it's one I'm glad I have."

This is something more of us will be wrestling with going forward.

We have close to 25,000 genes in our bodies.

We don't know what makes a lot of them important.

As we figure it out, it stands to reason we'll better identify disease risks in people, and attack those problems more effectively.

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