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For Some, Genetic Counseling Is a Lifelong Necessity

For some survivors, genetic counseling could be a lifelong relationship.

BY Jeanne Erdmann
PUBLISHED March 14, 2012

In 1991, 46-year-old Vicki Pierce, a Xerox manager from a Dallas suburb, underwent a lumpectomy, chemotherapy and radiation for breast cancer. She had always suspected that she had a predisposition for the disease because her mother received a diagnosis at age 32 and then again at age 69. When genetic testing became available in 1995, Pierce asked her oncologist if she should be tested. He said no.

Then in 2005, Pierce received a diagnosis of ductal carcinoma in situ in her other breast. After a second lumpectomy, she insisted on genetic testing, only to learn that not only did she test positive for the BRCA2 mutation, but so too did her daughters (ages 39 and 43), her brother and his daughter.

Pierce says life immediately changed for the whole family. Soon after Pierce’s second diagnosis, her younger daughter received a diagnosis of breast cancer. Because she knew that she was BRCA-positive, she decided to have a bilateral mastectomy. A year later, Pierce’s older daughter chose a bilateral prophylactic mastectomy. Then, because BRCA mutations significantly increase the risk of both breast and ovarian cancers, Pierce and both daughters had their ovaries removed.

By 2009, Pierce, who’d had lumpectomies following both cancer diagnoses, was tired of mammograms, MRIs and worrying, so she also chose to have a bilateral mastectomy.

“For us, testing was a double- edged blessing. At least we know what we’re dealing with,” Pierce says. “But I have grandchildren, so cancer isn’t over for us.”

“Long-term survivors can often benefit from genetic testing, even if it is many years since diagnosis,” says Suzanne Mahon, RN, who holds a doctorate in nursing science.

“Testing offers information about risk for other family members,” says Mahon, who is also a certified genetic counselor at Saint Louis University Cancer Center in Missouri. “About 10 percent of cancers are caused by inherited abnormal genes.”

[Should you be tested for an inherited cancer risk?]

For survivors, genetic testing can offer a better understanding of risks for a second breast cancer (approximately 20 to 50 percent) and ovarian cancer (approximately 15 to 40 percent). “Patients who test positive for one of the BRCA mutations can make good decisions about prophylactic surgery or engage in an aggressive plan for early detection,” Mahon says.

In general, people should seek genetic counseling when multiple family members in one generation or across generations receive a cancer diagnosis or a few have young-age onset of cancer.

“The decisions that members of our community are facing are tough, life-altering and irreversible,” Mahon says. “People should seek help from a credentialed genetic counselor.”

When searching for a genetic counselor with the proper credentials, Mahon recommends visiting the National Society of Genetic Counselors (nsgc.org). Members of the organization receive rigorous training, Mahon says, so that they can properly prepare family members for test results and the recommendations that follow.

Often, the person seeking genetic counseling is a family member of a survivor who may be concerned about risk, Mahon says. That’s why Joanne Kelly sought genetic counseling.

In her 20s, Kelly was having annual mammograms and breast exams twice a year, and had already had a benign mass in one breast. Her doctors knew that she was at high risk for breast and ovarian cancers because three generations of women in her family, including her mother, received a diagnosis of breast cancer, ovarian cancer or both at a young age.

Kelly’s mother received a breast cancer diagnosis at age 48 and had a lumpectomy, but was never tested for the BRCA mutations. Kelly is considered a previvor— one who is a survivor of a predisposition to cancer. In her 20s, she saw a genetic counselor briefly, but she refused the test for the BRCA mutations because she didn’t want, in her words, “to sit around waiting to get cancer.”

Kelly’s first reaction to testing is common, Mahon says. About 40 percent of women choose not to be tested.

When Kelly changed her mind, Mahon suggested that her mother be tested first. “In a family with a strong cancer history, testing the person who has already had cancer is more likely to have a positive test, which gives me the necessary information about whom to test next and exactly which test is needed,” Mahon says.

Genetics is complicated because once you learn something about one person you often learn something about someone else.

The person who has cancer, also called the “proband,” needs to be tested first because testing a relative who does not have cancer won’t rule out a genetic mutation in the family because that relative might not share the gene mutation with the person who has cancer.

After nine months of discussing their concerns about genetic testing, Kelly’s mother decided she was ready. She tested positive for BRCA1. Kelly was then tested and learned she had the same mutation.

“Testing is a very personal decision,” Mahon says. “Genetics is complicated because once you learn something about one person you often learn something about someone else. If I had tested Joanne first, her mom would have eventually known she was the obligate carrier. It is much more complicated than it appears at the surface.”

Three months later, Kelly began the operations for bilateral mastectomy and reconstruction. She recently had her ovaries removed. Even though she has two young children and knew that she and her husband didn’t want more, Kelly needed time to prepare emotionally to deal with menopause at age 35.

“It is devastating, but so empowering,” says Kelly. “As my husband says, ‘You have the opportunity to dodge a bullet.’”

Had Kelly or Pierce received negative test results, it would not have necessarily been good news because women can still have a hereditary form of breast cancer that, unlike the BRCA mutations, hasn’t been identified. Current analysis for the BRCA mutation cannot account for up to 20 percent of all hereditary breast cancers, depending on ethnicity.

Complicating testing even further, a negative test for the BRCA1 and BRCA2 mutations can still mean that some people indeed have mutations in these two genes. In a small percentage of people, pieces of genetic material rearrange themselves on the BRCA genes in a way that still raises the risk for cancer. This reshuffling can only be picked up by a test called the BRACAnalysis Rearrangement Test, or BART.

“BART tests the same two genes for mutations, it just uses a different technology,” says Kristen Shannon, CGC, program manager and senior genetic counselor at Massachusetts General Hospital Cancer Center’s Center for Cancer Risk Assessment in Boston. Even BART testing might not pick up all BRCA mutations, and there are other risk genes that can confer breast cancer risk, some of which can be tested for, but others that have not yet been discovered.

[Blog: What do you do when you have a family history of breast cancer, but test negative for BRCA?]

Like the BRCA1 and BRCA2 test, BART is offered only by its developer, Myriad Genetics, and costs $700 in addition to the standard cost of $3,340. In some cases, the company will waive this extra fee and include BART in a comprehensive BRCA1 and BRCA2 test. Certain criteria must be met before BART is included, for example, patients with breast cancer before age 50 and two or more family members with diagnoses of breast cancer before age 50 or ovarian cancer at any age.

There’s controversy in the genetics community over the extra cost of the test and why it’s separate to begin with. Mahon says she has cared for BRCA-negative families who don’t develop cancer until they reach age 50 or older. According to the Myriad guidelines for criteria, such family members would not have the cost of the BART test covered because they are over age 50. Mahon says she wants all women who are tested for the BRCA mutations to automatically receive the enhanced analysis as well.

Shannon led a recent study that supports the idea of including BART in all comprehensive BRCA testing. She and her team evaluated the 257 BART tests that were ordered at Massachusetts General from 2006 through 2009. The team found women who didn’t meet the developer’s criteria but had mutations that could only be detected by BART in 1.9 percent of the cases analyzed. “We feel strongly that women should get the most complete test available,” Shannon says. “We also encourage anyone who has undergone BRCA1 and BRCA2 genetic testing without BART to contact his or her genetic counselor for further discussion.”

In 2006, when BART testing became available, genetic counselor Becky Althaus, PhD, of Texas Health Presbyterian Hospital Dallas, sent a letter to nearly 2,000 women who tested negative for BRCA mutations, encouraging them to receive BART. She says about 10 percent chose to do so.

Althaus says that she often uses her experience and her clinical judgment to order BART analysis.

“I tell patients that there is one other test that turns out to be positive in about 1 percent of patients, Althaus says. “If you are the type of person who can’t sleep until no stone is left unturned, then you should consider this test.”

Even with enhanced analysis, results are sometimes neither positive nor negative. In tests for breast or other cancers, reports can say, “variants of unknown significance,” or “the variations in a gene could stem from ethnic background, or the variation could be linked to an increased risk of cancer that hasn’t been identified.” In such cases, Mahon often tests other family members or begins looking for rare cancers in the family line.

Over time, as more information is gathered from families carrying these variants, they are often reclassified as a true “deleterious” mutation that elevates cancer risk, or as a polymorphism, or genetic variant, that has no impact on cancer risk. Mahon says genetic counselors should always be vigilant about new tests that come out or new research findings, so that they can contact family members and brings them back for testing. It’s a matter of shared responsibility, she adds.

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