This article comes from the Winter 2006 issue of Vim & Vigor, UVa's free consumer health magazine. Sign up to receive a free subscription.
Knowledge Is Power
Genetic testing for cancer can help you make informed decisions about your health
Your genes determine the texture of your hair, the color of your eyes, the shape of your smile-and in some occasional cases, your risk of developing cancer. Genetic predisposition is a factor in an estimated 5 percent to 10 percent of breast and ovarian cancers.
Why would a woman want to know she has a faulty variation of a normal gene that increases her chances of getting breast or ovarian cancer? Some women don't want to know-they feel it would only add to their worries. For others, however, knowing their risks helps to minimize their worries, and in fact, can even lend a sense of empowerment.
Know Thyself
We all want to live long and healthy lives, for our own behalf and for the people who care about us. That's why every woman should be alert for cancer. If you can spot the disease early, it's usually far easier to treat. The risk for cancer depends on many factors, including one's age and lifestyle habits. And having a family history of certain cancers can indicate a higher genetic risk of having an inherited disorder. For example, a woman needs to be especially alert if several of her close family members-such as her mother, sister, grandmother or aunt-have had breast or ovarian cancer, and particularly if breast cancer was found before age 50.
"Discovering you have a family history is a good opportunity to ask your doctor whether genetic testing is an option for you," says Susan M. Jones, one of only a handful of cancer genetic counselors in Virginia, who for the past 11 years has been part of the Cancer Center at the University of Virginia Health System.
"Most women don't need genetic testing, but for a very select group of women," Jones says, "it can enable them to make informed health-management decisions based on their risks."
Your Genetic Makeup
Basically, your genes are like blueprints for all your body's functions as well as its appearance. When a gene carries a mistake, sometimes the altered gene can be passed on from parent to child. Gene alterations have been linked to both breast and ovarian cancer, and are most often found in the genes known as BRCA1 and BRCA2. Defects in these genes can occur in, and be passed down to, both males and females. Therefore, all family members may benefit from knowing they carry the gene alterations.
What to Expect
If your physician refers you to a genetic counselor, your experience is likely to include:
- Some investigative homework. First you'll be asked to gather information about your family medical history to help the counselor form an opinion about whether an inherited disorder may likely be present. This, in turn, will help genetic experts determine if genetic testing is appropriate for you.
- Pre-test counseling. You'll attend a 1-hour counseling session where you'll learn if an inherited genetic disorder is suspected, and if so, what it could mean for you. You'll also learn about the many medical strategies available to lower your cancer risks, or to detect certain cancers at an early stage in the cancer's development.
- A blood test. It's up to you at this point whether you undergo the test. It takes about four weeks to get your results. Results of DNA testing are sometimes straightforward to interpret but can also be complex and even ambiguous. "Many people think the DNA test gives perfect black-and-white results-you either have the mutated gene or you don't. Sometimes the answers just aren't that clear," Jones explains.
- Post-test counseling. If the results show you have an inherited disorder, you'll be scheduled for a second counseling session to help you decide the best way to act on the information. Choices can range from earlier and more intensive cancer screenings (mammograms and breast MRIs), chemoprevention (use of medications to lower your risk for certain cancers), or prophylacatic surgery (see "Treatment Options If You Are High Risk"). You'll need to weigh the advice of your physician and genetic counselor with your personal preferences. Whatever you take away from the experience, it's important to understand that these genetic mutations don't give a person breast or ovarian cancer-they only increase the risk. And without them you can still get cancer. Yet knowledge is power, Jones reminds. "The vast majority of people who come to see me are quite positive about the services they received. No one has ever said, ‘I'm sorry I found out.'"
Talk to Your Doctor
If you have a family history of breast or ovarian cancer, talk to your health care provider about whether you should be referred to a cancer genetics counselor.
A routine mammogram changed Karen Bloomfield's life forever.
It was during an annual screening to detect breast cancer that a radiologist spotted a suspicious lump in one of her breasts. Not convinced that it had all the characteristics of cancer, the doctor told her to wait, and repeat the mammogram in six months. But with a strong family history of cancer, Bloomfield didn't want to wait. She wanted a second opinion.
That led her to the University of Virginia Health System, where a dedicated breast radiologist and other specialists from the Breast Care Center offered Bloomfield a definitive diagnosis-early-stage breast cancer. "If I had waited six months, the cancer probably would have gotten much worse," says the Charlottesville woman.
Though Bloomfield had no evidence of cancer after surgery and chemotherapy, she didn't have peace of mind. She was concerned that her genetic makeup had put her at an increased risk of developing breast cancer again. 
Given that family history is one of the strongest predictors of a woman's chance of developing breast cancer, her fears weren't unfounded. Eager to learn more, she made an appointment with UVa's Cancer Genetics Clinic, which helps at-risk individuals make informed decisions about genetic testing, screening options and risk-reduction strategies. She tested positive for a mutation in the BRCA2 gene, meaning she had a 40-65 percent risk of developing a second breast cancer and was at increased risk for ovarian cancer.
"It was like being hit with breast cancer again," Bloomfield recalls. Yet knowing and doing something about her risk, she felt, was better than waiting. She met with the genetic counselor again to discuss options for managing her cancer risk, which included increased surveillance and the use of medications such as tamoxifen. To lower her risk and lessen her anxiety about getting breast cancer, she decided to have prophylactic (preventive) surgery, which involved removing as much of the at-risk tissue as possible to reduce her chances of developing cancer.
Other members of her family opted to have genetic testing as well. Her sister not only tested positive for the BRCA2 gene but also learned she had precancerous lesions in both breasts. Bloomfield's personal journey also has had a profound impact on her daughter Elana, 20; now aware that the gene runs in her family, she will be more vigilant about screening. "I am really glad to have this information for her sake," Karen Bloomfield says. "She's going to start having mammograms at 25."