Cancer genes: Simple blood test is emotionally charged

By Kay Quinn, Healthbeat Reporter

KSDK -- Amazing advances in medicine mean doctors can now identify patients who have the genes that cause breast and ovarian cancer.

Finding out who's at risk is as simple as a blood test. What are often complicated are the feelings of the families considering testing and ultimately deciding what to do with the results.

If you've never had breast cancer, using a blood test to find out if you have one of the BRCA genes that cause it probably sounds like a no-brainer, but for anyone with a strong family history of cancer, it's like opening a can of worms.

"I asked my mother to open that can of worms since she is the one with breast cancer we wanted to test her first," says Joanne Kelly, who recently found out she has a gene for breast cancer.

Kelly, 33, is a wife, mother of two, and an oncology nurse.

"My mother is an 11- year breast cancer survivor, her sister died of both breast and ovarian cancer, my grandmother died of ovarian cancer, my great-grandmother died of ovarian cancer," Kelly says.

Ten years ago, Kelly did not think getting tested was such a good idea.

"I felt like if I found out, I knew I would be sitting waiting to get cancer," says Kelly.

But as she pursued her dream to be an oncology nurse, her feelings changed; that and getting to know Dr. Suzanne Mahon, who specializes in genetic counseling.

"She is the one who gave me the knowledge to have the opportunity to change my future really," says Kelly.

"I always tell people to come with an open mind," says Dr. Suzanne Mahon, DNSc, AOCN, APNG, a clinical professor of internal medicine in the division of hematology and oncology at St. Louis University Medical Center. She counsels families considering genetic testing for breast and ovarian cancer.

She knows the courage and insight it takes for families to decide whether they want to know.

"The drawing the blood is actually the simplest part of the whole process," says Dr. Mahon. "The most complex part is how patients are going to manage that info and then if they get bad news how are they going to act on that."

Because Kelly's mother had had cancer, she agreed to be the first in the family to be tested.

"And she was positive so my chances of being positive were 50 percent," says Kelly, "and so I then chose to get tested and I ultimately was positive."

Kelly had decided ahead of time that if she had the gene she would have both of her healthy breasts removed so she would never have to worry about breast cancer.

"I think I'm a breast cancer survivor in a sense," she says. "I prevented hopefully from getting cancer."

Kelly's decision to have prophylactic mastectomies is pretty typical of patients who undergo genetic testing for breast cancer. Eighty-five percent of those who test positive will go on to have some kind of preventive surgery.

"So it's really important for people to have a huge support system and realize it's a big deal when you decide to test," says Dr Mahon.

"My mother was disappointed," Kelly recalls. "I think she felt a bit of guilt. Obviously this was passed on from her side of the family. Never did I feel that way about her."

It was a normal reaction, according to Mahon.

"When you talk to families and women who've had breast cancer they tell you that getting that diagnosis of having the BRCA 1 or 2, they say that is just as devastating as when they were told they had the diagnosis of breast cancer," says Dr. Mahon.

Kelly is undergoing reconstructive surgery and also planning to have her ovaries removed to lower her 44 percent chance of getting ovarian cancer. She's also glad to be seeing a longer and healthier future.

"I did it for my family," says Kelly. "My advice to women is to know there are options and that counseling is key."

Genetic testing for breast and ovarian cancer usually involves testing a family member who has actually had the disease first.

That test costs about $3,300. The cost is covered by some insurance plans. Testing for remaining family members costs about $400.