
DATE: Monday, November 17, 1997             TAG: 9711170071

SECTION: FRONT                   PAGE: A1   EDITION: FINAL 

SOURCE: BY MARIE JOYCE, STAFF WRITER 

DATELINE: NORFOLK                           LENGTH:  142 lines

GENETIC TEST CAN SHOW POSSIBILITY OF CANCER A HAMPTON ROADS FACILITY WILL BEGIN SCREENING IN DECEMBER.

A simple blood test told Kara Rothman that she was free. She had not inherited the family curse - a genetic mutation that can lead to early breast cancer.

There will be many more happy endings like Rothman's when Sentara Cancer Institute opens its new Cancer Genetic Risk Assessment Program Dec. 1.

But there will be unhappy endings, too. Many patients will walk away with a heavier burden.

The simple blood test, it turns out, isn't so simple after all.

Rothman, a Norfolk resident, always assumed she'd get breast cancer. Her mother, a health-conscious vegetarian, got the disease twice.

Not that Rothman was frightened, exactly. Her mother had fought courageously and survived. But Rothman saw no point in exercising and giving up cigarettes.

The prospect of getting cancer made healthy living seem pointless.

Then, scientists found a specific genetic mutation involved in inherited breast cancer three years ago. Tests showed that Rothman's mother had the mutation on a gene called BRCA1. Rothman, 27, and her sister got tested this summer.

But Rothman and her sister got good news: They hadn't inherited the defect. Their risk was no worse - or no better - than average for a young American woman.

Now the whole world looks

different to Kara Rothman. She's started exercising every day and she's trying to quit smoking.

``It's almost like I have a clean slate,'' she said.

Rothman had the test in the office of Dr. R. Nathan Slotnick, a geneticist and obstetrician. Slotnick spends most of his time dealing with high-risk pregnancies, but cancer patients such as Rothman have been seeking him out, and their interest convinced him and Sentara that there was a demand for cancer genetics services.

Hampton Roads' first comprehensive program devoted to cancer genetics will be run out of the institute's offices in the River Pavilion at Sentara Norfolk General Hospital. Initially, the focus will be breast, ovarian and colon cancer genes. Eventually, other cancers will be included.

The program has been made possible by an explosion of scientific knowledge about which genes are implicated in certain inherited cancers. Doctors can now test for some of these genetic mutations.

The press has made people aware of the genetic nature of cancer. And much has been published about the prevalence of cancer - breast cancer, for example, is the second leading cause of cancer death for women, behind lung cancer. But people with a family history of cancer don't know enough to assess their odds of getting the disease, Slotnick said.

``Patients may underestimate their risk,'' said Slotnick, ``or may overestimate their own risk.''

The general population has about a 0.2 percent risk of getting one of the three most dangerous known mutations on the genes: BRCA1 and BRCA2. These mutations greatly increase a person's odds of getting breast, ovarian, colon and prostate cancer.

The risk is higher for some people. For Ashkenazim, or Jewish people of Central and Eastern European descent, like Rothman, the risk is much higher - about 2 percent.

Because assessing the odds is such a complicated business, the new program will involve much more than a blood test. Counseling and education will be the more important components.

Not all patients will get the test. First, a genetic counselor will get detailed information about the patient's family medical history and explain the pros and cons of testing.

Sometimes, an examination of the family tree will show that the risk isn't great enough to justify the expense of the test.

If a patient requires a blood test, the cost for the whole program will probably be $2,000 to $2,500. It typically is not covered by insurance, although Slotnick has had some luck getting companies to pay for the cou n seling component. Slotnick is hoping to get research money to pay for some patients.

Unfortunately, no test can answer the question of risk definitively.

Take the case of BRCA1, the gene that can have mutations that may lead to breast or ovarian cancer. Dozens of mutations on BRCA1 can contribute to these cancers. But laboratories can only test for the most common problems. So a good result doesn't mean a patient is free of danger, Slotnick said.

And those who learn they have a bad mutation - whose lifetime risk of breast cancer may be as high as 90 percent - don't have clear choices.

A woman can have frequent mammograms and breast exams. But that doesn't prevent the cancer, just improves the odds that it will be caught in time.

Some women opt to have their breasts and ovaries removed, but there are no good studies on how much that reduces risk. It doesn't eliminate the danger, since it's impossible to remove all the breast and ovarian tissue.

``What do you do?'' said Slotnick. ``Not clear. Not clear at all.''

Rothman had to wrestle with those questions during the 2 1/2 months she awaited her test results this summer. A surgical technician at Norfolk General, she sometimes assists with mastectomies. These operations discomfited her in a way they hadn't before.

She still doesn't know whether she would have had her breasts removed if the news had been bad.

``Fortunately, I don't have to make that decision,'' she said.

Rothman also worried that health insurance companies would deny her coverage if she had inherited the risk from her mother.

This fear stops some patients from getting the blood test, Slotnick said.

``The privacy issue is one that we're dealing with on a continuing basis,'' he said, ``We can't guarantee (it) right now.''

The Cancer Institute staff will try to keep the information private, he said. But if a patient changes jobs, the insurance company has the right to ask him if he has been tested for specific genetic mutations.

Genetic testing can also cause family problems. Some patients refuse to tell family members of a bad mutation. Other times, relatives resent being told.

Rothman said the issue caused some tension in her family. Most of her mother's female relatives of her mother had the test. But Rothman's sister was reluctant at first.

``She didn't want to know, 'cause she was scared,'' Rothman said.

Her family worked it out. But it doesn't always end so well.

Doctors have been sued by relatives who say they should have been warned. Even so, Slotnick said, the privacy of the individual will be paramount. ``The patient is the patient that is with you,'' he said. ``I can't force the patient to do something against their will.''

Despite the drawbacks, Slotnick said, it's better for people to have as much information as they can. And science may well come up with even better cancer treatments in the next few years, giving patients more options than they have now.

``At least we'll be able to give them what we do know,'' he said.

The program is needed in part because knowledge of human genes - what is normal and what can go wrong - is changing too fast for many family doctors to keep up, said Slotnick.

``Most clinicians who are now five years out of medical school . . . are now five years behind the curve,'' he said. ``It's hard for me, and that's my full-time job.'' ILLUSTRATION: Color Photo

BILL TIERNAN/The Virginian-Pilot

Kara Rothman's family has a history of breast cancer, and she

thought she would have it, too. But after testing negative for the

genetic mutation, her attitude on life changed. ``It's almost like I

have a clean slate,'' she said.

Graphic

THE TEST

The cost: If a patient requires a blood test, the cost for the

whole program will probably be $2,000 to $2,500. It typically is not

covered by insurance.

For more information: People interested in the genetic counseling

program may contact Sentara Cancer Institute at (800) 523-8223. KEYWORDS: BREAST CANCER GENE TESTING