Medical Crystal Ball: Genetic Tests Can Open the Door to Predicting Your Future Health

If you could take a test to tell you what diseases you may develop 20 years from now, would you?

If the results might radically change your life — or even your childrens’ lives, would you?

"We wanted to know," said Williams about the decision to take blood tests to determine if they carried a genetic mutation of BRCA1 or BRCA2. Carriers of these genetic variations have signifigantly higher chances of developing breast and ovarian cancers, especially if they’re of the Ashkenazi Jewish heritage like the Williams family, medical research shows.

In a little over six years, Liz Williams, her daughter Karen Howerton and Karen’s daughter Kara Beeler have each been diagnosed with breast cancer.

Though treated for the cancers, a postitive BRCA test result also means that there’s a significantly higher chance their cancers will come back.

Beeler, who developed cancer at age 31, tested positive for the variation, which made easier her decision to have her breasts removed to help reduce the chance of her cancer reoccuring, she said.

"It was just another blood test," she said. "But it was

the deciding factor in having my breasts removed."

Howerton, knowing already that her mother and daughter tested postitive for the gene variation, eschewed the test and decided to have both of her breasts removed as a preventative measure.

"I didn’t need the test since I’m in the middle," said Howerton. "I already knew I had it. . . . They already tested for me."

Forewarned is forearmed

A November survey of more than 1,100 people, conducted by Siemens Medical Solutions, revealed that 72 percent of Americans would take a test that could identify diseases as much as 20 years in advance.

Also, women were 28 percent more likely than men to educate themselves about treatment options and seek treatment at any cost — even if they were told they would eventually be diagnosed with an incurable disease.

The price of such knowledge, as with the Williams family, can seem extreme — fiscally, physically and emotionally.

In the Williams family, it meant three generations of women had their breasts removed.

All three also had their ovaries removed as a preventative measure.

All three took chemotherapy.

Howerton’s brother also was tested for the gene abnormality because he has two daughters. Beeler wants her own daughters tested once they’re age 18, of legal age to give their own consent to the tests.

Currently, common dillemas, such as whether or not to prescribe Beeler’s adolescent daughters birth control (estrogen) to help fight acne, are more complex, because research shows tentative links between hormone treatments and breast cancer, she said.

For their family, dealing with cancer is an everyday job, Williams said.

Beeler’s son "believes everybody gets cancer, like it’s contagious," Beeler said on a recent lunch date with her mother and grandmother at a Tulsa-area restaurant.

"We joke with him about it, because sometimes humor is the only way to let others know that things will be OK . . . Honestly, I believe the BRCA tests have probably saved our lives and given us knowledge, which has given us strength."

But even her grade school-age son is at risk of having a BRCA variation, she said, which means he would also be at risk for developing breast cancer.

Are you covered?

The emerging science of personalized medicine — ranging from genetic cheek swab tests available on the Internet to molecular imaging techniques at leading hospitals — is providing people a "medical crystal ball" to see diseases in their future, said Dr. James Lockhart, president of the Warren Cancer Research Foundation and a surgeon at St. Francis Hospital in Tulsa.

The BRCA gene test cost Beeler nearly $3,000, which was covered by her insurance because of her high-risk status, she said.

She and her grandmother also were required to have counseling before they could agree to take the test.

"Everyone should have counseling before a test of this nature," Lockhart said.

The ramifications of such tests are important to think about before you know the results, Lockhart said as he rambled off a list of basic questions.

"What happens if you test positive? What will you do? Will you have prophalactic surgery? Will your family get tested? Will you feel guilty if you test negative and another family member tests positive? Will you keep your job? Will you blame your family?"

He ended with another important question: "How will this effect your ability to remain insured?"

Depending on their regulations, health insurance companies may or may not cover the cost of testing — and some may deem your genetic predisposition a "preexisting condition" if you later develop the illness, he said, which means health insurance may not cover later treatment or preventative treatment like breast or ovary removal.

Tests may be performed to look for genes that may increase the liklihood of colon, kidney, lung, skeletal or endometrial cancers, melanomas, Hunnington’s chorea and sarcomas and more, Lockhart said.

"The genetics side of cancer research is really just starting to grow," he said. "It’s in the early childhood stage, and we’ve got a long way to go."

Today, all three women go in for check-ups every four to six months. Williams is celebrating six years cancer-free, she said.

They take prescription medications to reduce the opportunity of their cancers reoccuring.

Beeler taught her young daughters to give themselves regular breast exams, too.

"But no more mammograms," Williams joked about the three women’s breast removals. "Now we have an idea of what to expect, we have a healthy attitude and we’re all survivors. We see that, our families see that."

Howerton agreed.

"Any more, people think of cancer — especially breast cancer — as the ‘disease next door,’ " she said.

"Being proactive about it helps give us more control . . . And besides, I’ve always hated wearing bras," she said with a laugh.

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Jennifer Chancellor 581-8346 jennifer.chancellor@tulsaworld.com

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Did you know?

A recent survey conducted by Siemens Medical Solutions revealed:

1. Three out of four Americans would take a test that could identify diseases — ranging from cancer to heart disease — as much as 20 years in advance.

2. More than one in three Americans would want to know now if he or she will be diagnosed with an incurable disease at some point.

3. Nearly half of those surveyed would want to know if Alzheimer’s disease is in their future, despite the lack of a cure.

4. Women are 28 percent more likely than men to educate themselves about treatment options and seek treatment at any cost if they were told they would eventually be diagnosed with an incurable disease.

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What is testing?

Currently, more than 900 genetic tests are available from testing laboratories. Gene tests involve examination of the DNA molecule. Other genetic tests include biochemical tests for such gene products as enzymes and other proteins and for microscopic examination of stained or fluorescent chromosomes. Genetic tests are used for:

1. prenatal diagnostic testing

2. newborn screening

3. presymptomatic testing for predicting adult-onset disorders such as Huntington’s disease

4. presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer’s disease

5. confirmational diagnosis of a symptomatic individual

6. carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed

7. preimplantation genetic diagnosis

8. forensic/identity testing

Source: www.genomics.energy.gov

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Does insurance cover genetic testing?

In most cases, individuals will have to contact their insurance providers to see if genetic tests, which cost between $200 and $3,000, are covered, states the government-based information Web site on genetic research, www.genomics.energy.gov  .

Usually, insurance companies do not cover genetic tests. Those that do will have access to the results. Insured persons would need to decide whether they would want the insurance company to have this information.

States have a patchwork of genetic-information nondiscrimi nation laws, none of them comprehensive. Existing state laws differ in coverage, protections afforded and enforcement schemes.

According to the National Conference of State Legislatures Web site ( www.ncsl.org/programs/health/genetics/ndishlth.htm ), Oklahoma does have a law in place to prevent health insurance providers from establishing rules for eligibility based on genetic information and from using genetic information for risk selection or risk classification purposes, among other things (file 36-3614.1).