June 18, 2008
Knowing is Half the Battle for Some Families
By SHANTEE WOODARDS Staff Writer
Elizabeth Brunk didn't want to know if she had a higher risk for developing breast cancer, even though four relatives had the disease.After Mrs. Brunk's younger sister was diagnosed with breast cancer two years ago, she encouraged her siblings to get tested to determine whether they carried the gene. Mrs. Brunk's sisters were tested, but still Mrs. Brunk resisted.
It wasn't until she learned that having the gene would put her children at greater risk, that she reconsidered.
So the Crownsville woman made an appointment with Genetic Counseling Services at Anne Arundel Medical Center in March, becoming one of the 128 women to seek services there since it opened last summer.
The appointment required Mrs. Brunk to gather what she knew about her family's medical history, including her maternal grandfather who died from pancreatic cancer in the 1960s, her aunt who had ovarian cancer and another aunt and her sister who were both diagnosed with breast cancer. She learned that she tested negative last month.
"When it involves my kids, the mother lion in me just comes out," said the 49-year-old Mrs. Brunk, who has two daughters and a son. "I felt like I had to know, so I could help them."
Genetic testing is becoming almost commonplace and can be used to determine the risk of developing several diseases, including Alzheimer's and diabetes. But it hasn't been without controversy.
Last week, Congress passed a bill that would prohibit companies from using genetic information to make job or health insurance decisions. Under the bill, health insurance companies could not use someone's predisposition for cancer or other illnesses to set premiums or determine enrollment eligibility. Also, employers would not be able to use the information in hiring and firing decisions.
At AAMC, counselor Aimee Piurek conducts testing twice a week, on Tuesdays and Fridays. Many patients come at a doctor's recommendation because of the number of people with cancer in their families. Ms. Piurek's job is to determine whether the patients carry the BRCA1 gene for breast cancer or the BRCA2 gene for ovarian cancer.
Those who carry the gene have a 50 to 80 percent chance of developing breast or ovarian cancer. They also have a 50 percent chance of passing the gene on to their children, Ms. Piurek said.
During a typical appointment, Ms. Piurek examines three generations of family history. She checks to see if patients have multiple relatives with a similar cancer, their age and if anyone in the family has a rare cancer, such as men with breast cancer.
When women test positive for the breast cancer gene, Ms. Piurek talks to them about screening for the disease and encourages them to get two to four clinical breast exams a year.
With ovarian cancer, the tests for detecting it are limited. If the patient is older and is done having children, it is recommended that they have their ovaries and fallopian tubes removed, based on the test results.
"I've found that most patients want to be proactive," Ms. Piurek said. "They've seen a number of women in their family diagnosed. They are very young women with children and they're concerned about sticking around with their children. They do what they can to detect or get their cancers early."
The stigma that comes with testing positive for the gene is part of the reason Ann McDermott decided against getting it. The Annapolis resident was diagnosed with breast cancer last year.
She was the first person in her family to have the disease and was encouraged to undergo testing to see if the gene ran in her family. But her mother and sister didn't want to know if they had it, so Ms. McDermott decided not to do the test.
"I don't think it's cut and dry," said Ms. McDermott. "It's a very, very personal decision and impacts so many things."
Mrs. Brunk took a friend with her when she got tested March 7.
If she carried the gene, Mrs. Brunk decided she would undergo surgery that would remove the breast tissue where the cancer would have developed. One of her sisters who tested positive for the gene is undergoing such a pre-emptive surgery this summer.
The results came in April 11 and Mrs. Brunk took her husband with her. The negative test means she has the same odds as anyone else in developing cancer.
"When she told me I was negative, that's when I started to cry," Mrs. Brunk said. "With any surgery, there's still a lot of risk. You're put under anesthesia and you never know what's going to happen. You want to try to have a healthy life without these things.
"I might walk out of here and get hit by a truck, but this cancer thing is not an issue for me, my family or my husband."
A doctor's referral is not required for the genetic testing, but without it, a consultation costs $125. Most insurance companies cover the test, but require patients to pay 10 percent of the $3,125 cost.
"Not every woman who tests positive for mutation will choose (the surgical) option," Ms. Piurek said. "My job is to let them know the options available and other things they can do as well."
(c) 2008 Maryland Gazette. Provided by ProQuest Information and Learning. All rights Reserved.