Genetic testing yields information for life-changing, life-saving decisions.
For certain women, cancer is a genetic family heritage, an inherited mutation of BRCA 1 and BRCA 2 genes, which puts them at a highly increased risk for breast and ovarian cancer. Women who inherit this gene mutation can face a risk of cancer as high as 56 to 87 percent.
For Kupfer, a writer and English professor at Iowa State University, the family history was certainly there. Her mother, grandmothers, aunts and cousins all had breast cancer. But since her cousins had been screened for the BRCA gene mutation and their tests were negative, "I thought it was just your garden variety breast cancer," says Kupfer.
In the past she had discovered lumps and had biopsies, all negative for cancer. But her physician urged her to consider genetic testing not only because of family history but also because Kupfer is of Ashkenazi Jewish descent, a high risk group for a type of BRCA 1 gene mutation.
Still, those factors did not prepare Kupfer to receive her test results from Mary Ellen Carano, coordinator of the Cancer Resource Center, and Larry Otteman, M.D., oncologist.
The test result was positive for inherited cancer.
Having already lost a son to an inherited genetic disorder, Canavan Disease, Kupfer thought the positive result seemed particularly unfair. (Her son's story was told in Kupfer's book, Before and After Zachariah.)
Kupfer's reaction did not surprise Carano.
Genetically inherited cancers account for only 5 to 10 percent of those diagnosed with cancer.
"It's a small piece of the cancer picture, but a positive result can be overwhelming," says Carano. "These are weighty decisions. Of course there are lots of mixed emotions and a heavy sense of responsibility to family members."
A hereditary breast and ovarian cancer diagnosis can direct some of the biggest decisions a woman will make in her lifetime, whether to keep her breasts and ovaries and screen aggressively, to preempt cancer through a regimen of medication like Tamoxifen, or to prevent cancer from occurring at all by having her breasts and ovaries surgically removed.
"The month of May (2009) was very hard," Kupfer acknowledges.
Kupfer began collecting information from the Cancer Resource Center, from personal networking and the Internet, particularly at a support site called Facing Our Risk of Cancer Empowered (FORCE) at http://www.facingourrisk.org/.
"My way of dealing with things is talking and finding out as much as I can. I was calling women, complete strangers, to ask them questions."
Her search revealed a sisterhood of women with hereditary breast and ovarian cancer (HBOC), sharing their advice, knowledge, and experience.
"I found out how great women are, how supportive and nurturing," she says.
While family members in New York tried to insist Kupfer seek her medical advice on the East Coast, she was comfortable with the care and information she received from the William R. Bliss Cancer Center.
"We have a very good genetics clinic right here. I've been very pleased. Mary Ellen called me just to check up on me, just to say ‘How are you doing?' That meant a lot to me," says Kupfer.
Armed with the knowledge of her hereditary risks for breast and ovarian cancer, Kupfer chose to have two separate operations: an oophorectomy (removal of the ovaries and fallopian tubes) in May and a double mastectomy this fall. Both are prophylactic surgeries to prevent a future cancer diagnosis.
"Sometimes I think ‘Aren't I lucky? I'm not going to get cancer.' Then again, it's hard to think that way when you are facing a double mastectomy," Kupfer says.
Despite the emotional difficulties of coming to terms with the diagnosis, Kupfer says there was comfort in having the knowledge.
Her daughter Gabi, who lives in Chicago, was also tested to see if she had inherited the gene mutation.
"My daughter called me sobbing, but I could hear her voice clearly through the crying, ‘Mom, I don't have it.' When I knew that it ended with me, that Gabi and my granddaughter Ruthie were safe, I thought, I can deal with this."