Genetic testing fights cancer before it strikes

When her doctor first asked if she would consider DNA testing to see if she had a genetic abnormality, the woman from Maple Grove said: No way.

Michelle had just learned, at age 36, that she had breast cancer. And as a young mother, she couldn't handle any more bad news.

"I wanted nothing to do with it," she said. "I was just overwhelmed."

It took two years of chemotherapy, radiation and recovery before she was strong enough to seek out a genetic counselor and tell her: Now I'm ready.

It's estimated that 5 to 10 percent of breast cancer patients have a genetic mutation that will likely affect other members of the family. But finding and facing up to those genetic demons can be tricky.

Now, a team of specialists at North Memorial Medical Center in Robbinsdale is trying to make it a little easier.

Last year, the hospital launched a pilot project designed to seek out patients who may have inherited cancer and help them find answers.

Dr. Thomas Amatruda, who heads the genetic cancer program, said the project was prompted by concerns that they were missing an opportunity to help many high-risk families.

If doctors know that cancer runs in a family, they can have monitored its members more closely, and in some cases perform operations that reduce their risk.

"A lot of people who would benefit from testing don't get it," Amatruda said "This is life-saving information."

Genetic testing for breast cancer has been done since the early 1990s. But the North Memorial project was designed to reach out to women who may not have considered it before or realized the potential benefits of being tested.

Family reunion brings success

Last year, genetic counselors at North Memorial sent out surveys to more than 400 women who had breast cancer. Funded by $200,000 in grants from the Susan G. Komen Foundation, the survey asked about any known cancers in the family tree, along with other details such as age at diagnosis.

Essentially, they were looking for red flags, said Joy Larsen Haidle, a genetic counselor who headed the project. They included: breast cancer before age 50; three or more cases of breast cancer in the immediate family, or a pattern of breast and ovarian cancer.

The surveys, Haidle said, indicated that one in four of the women was at "high risk" for a genetic abnormality, though more testing would be needed to confirm each case.

Sometimes, the genetic link can seem painfully obvious.

Mary Malone of Blaine had no doubt that breast cancer ran in her family, even before her diagnosis at age 48.

"It's an understood thing. All of my mother's sisters died from it," said Malone, now 56. "It isn't if we get cancer, it's when."

Yet when she was first tested, there was no sign of a genetic mutation. Haidle, her genetic counselor, knew the test had to be wrong because the family history was too strong.

"We didn't believe the test result," she said. So they ordered more testing. Eventually, it took a family reunion -- where several dozen relatives agreed to have blood tests -- to find the culprit in the gene pool.

Scientists discovered a previously unknown mutation on a breast cancer gene in Malone's family.

Sorting out information

Many times, the family tie is harder to detect. The vast majority of breast cancer cases are not inherited, said Barb Kunz, another genetic counselor at North Memorial. And the clues, in a case like Michelle's, can be confusing.

Michelle, who asked to be identified only by her first name for privacy reasons, long suspected there was a cancer gene in the family. Her father's mother and sister both had breast cancer in their 50s or 60s, and she was worried enough to request a mammogram in her early 30s.

But a doctor told her -- incorrectly -- not to worry because it was on her father's side, she said.

She developed breast cancer at age 36. When she finally had a genetic test, she learned she carries a breast-cancer gene known as BRCA-2. She's now 40 and doing well, though she lives in fear of a recurrence.

It was Michelle's case that helped inspire the genetic counselors at North Memorial to launch the new project.

"Could we have given someone a warning sign before it happened?" Haidle said. "Could we prevent more cancers? That's when we started thinking about the [survey]."

Amatruda said many genetic programs are struggling to do the same thing: to find a relatively simple, standardized way to identify high-risk families.

They can't genetically test everyone, because the costs are so high (about $3,000) and the known mutations so rare, he said. So now, they hope to develop a computer program to identify high-risk patients.

Still, not everyone wants to know if they have a cancer gene, Haidle said. Some patients have ignored the letters telling them that they're at high risk. And that's their choice, she said.

"They might not be emotionally prepared," she said, or worried about getting life insurance. If that's the case, she added: "They shouldn't get the test done, because you can't unlearn it."

But Michelle has no regrets. "For my niece and my daughter, this is such a key piece of information," she said.

Malone agreed. In her family, women who have the mutation are taking extra precautions, such as frequent MRI exams. "It gives you power to take charge of your situation," she said.

And for those who don't have the mutation, Malone added, there's another benefit. "It provides a tremendous amount of relief."

source:www.startribune.com