Choosing genetic counseling and testing

February 18, 2010

Michelle LeBrun-Griffin, 39, doesn’t have cancer, but the disease flourishes on her family tree. There’s cervical cancer, ovarian cancer, breast cancer, and the latest, the peritoneal cancer her mom has. “I have a friend whose mom was also diagnosed with cancer 15 years ago and I can remember us kidding each other: We’ve got the mark. We have the tag,” recalls LeBrun-Griffin, of Southington. It’s late morning and she’s seated near her mother, Pat LeBrun, 63, who’s here for another round of “maintenance” chemotherapy at The Hospital of Central Connecticut’s (HCC) George Bray Cancer Center. LeBrun, who’s wearing one of her two wigs — she’s named this one “Suzie” — is trying to put this cancer behind and move forward, again. But it’s hard. Her three aunts died of either cervical, ovarian or breast cancer and another relative who has breast cancer tested positive for a genetic mutation. Like mother like daughter? Both women want answers. So, after today’s chemo session, LeBrun will find out if she carries a genetic mutation that triggered this cancer of the abdominal lining and the ovarian cancer diagnosed at age 47. If Mom tests positive, then her daughter, a mother of three young children, will be tested to see if she carries the same genetic mutation. LeBrun, of Southington, was the first patient tested at HCC’s new Katherine Ann King Rudolph Hereditary Cancer Genetics Program, which opened early October. HCC launched the regional genetic counseling and testing program — which includes Hartford Hospital and St. Francis Hospital and Medical Center — aimed at identifying adult patients at risk of certain cancers triggered by gene mutation and empowering them to make decisions regarding possible treatment.

Waiting it out

“They want to know if they’re at increased risk for cancer,” says HCC genetic counselor Linda Steinmark, B.A., M.S., of patients who opt for genetic counseling and testing. “It may feel like they’ve been waiting for the other shoe to drop after a family member has been diagnosed with cancer. Receiving a result, either positive or negative, can reduce a lot of the anxiety of not knowing.” Up to 10 percent of breast and ovarian cancers are caused by an inherited gene mutation, according to HCC gynecologic oncologist James Hoffman, M.D. For example, a BRCA 1 or 2 gene mutation increases breast cancer risk from 12 percent for the general population to 50 to 80 percent in females; likewise, ovarian cancer risk jumps from 1.4 percent to 15 to 44 percent, Steinmark says. Knowing LeBrun’s family medical history, Hoffman asked LeBrun to consider genetic counseling. “He saw there was definitely quite a link and this was not knowing what my father’s side had,” LeBrun says. HCC offers genetic testing for defects in genes involved in hereditary breast and ovarian cancer, hereditary nonpolyposis colorectal cancer, and familial adenomatous polyposis, which also leads to colorectal cancer. “I’m kind of resigned to the fact, more chances than not, it will be positive,” says LeBrun, who says if it is, she’ll likely opt for increased cancer screenings vs. surgery. While her daughter isn’t prepared for preventive surgery if she has a mutation, LeBrun-Griffin feels testing is important for her children’s sake. “I think I owe that to all three of them, not just my daughter,” she says, noting her obstetrician-gynecologist recommended testing. A relatively new field of medicine, genetic testing is on the increase. “It was realized very early on that genetic information can have enormous impact on a person’s psychological well-being as well as on members of their family,” says Steinmark. “From research studies we have what a person’s lifetime risks are of developing specific cancers if they have a gene mutation.” Potential candidates for counseling and gene testing at HCC are patients with a history of two or more cancers — breast, ovarian or colon cancer at a young age, or a family history strong in certain cancers. The program will eventually cover additional genetic-based conditions. Physician referral is required for genetic testing but not for a consult. The program follows guidelines from the National Society of Genetic Counselors and the American Society of Clinical Oncology. Before testing, Steinmark counsels patients about their cancer risk based on a detailed portrait of the family’s health history. This means tracing the age of cancer diagnosis for parents, siblings, grandparents, great grandparents, aunts, uncles and cousins. She also discusses increased screening and treatment options, like risk-reducing surgery, and counsels patients to discuss these further with their physician when results are known. Patients typically take a DNA blood test. Results are usually received in about two weeks. “Because of the future health and psychological considerations, and the impact of this information for family members, it’s very important for a person to participate in genetic counseling prior to genetic testing,” says Steinmark, who supports patients in the decision-making and testing process. HCC’s genetics program, developed by Hoffman and HCC colorectal surgeon Christine Bartus, M.D., is funded largely through the Katherine A. and Bruce A. Rudolph Hereditary Cancer Genetics Fund, with a lead gift of $250,000 from Bruce Rudolph in memory of his wife, Katherine Rudolph. The fund, which includes a state grant and has a $1 million goal, will help provide access to genetic counseling for patients in central Connecticut and greater Hartford.

The making of a genetic mutation

In families with a cancer thread, genetic testing looks for a mutation of certain genes. Genes, imbedded within each cell’s nucleus, are part of the tightly packed DNA within each cell’s 23 pairs of chromosomes. The body has approximately 20,000 genes; some contribute to traits like height and eye color; others contribute to various body functions. BRCA genes, for example, are involved in normal cell function. Every cell has two copies of each gene and it’s fairly common for cells to change and even mutate. If a mutation occurs in one of the two copies of a BRCA 1 or 2 gene, for example, the other gene copy still works. But if there’s a mutation in the second copy, the cell can become cancerous. A person with a gene mutation has a 50 percent chance of passing it down to each of his or her children. According to the National Cancer Institute, altered genes contribute to over 4,000 diseases. Hoffman stresses that with hereditary nonpolyposis colorectal cancer (HNPCC) or BRCA gene mutation, a patient inherits a higher cancer risk, not the cancer. “You inherit the genotype.” Many women with a BRCA gene mutation who have already had children opt for bilateral removal of fallopian tubes and both ovaries, says Hoffman, adding breast cancer risk is generally lower with earlier menopause.

Looking toward the future

A particularly rampant genetic condition, familial adenomatous polyposis (FAP) can present with up to thousands of colon or rectal polyps at a very young age. Without colon removal, FAP typically causes colorectal cancer before age 40, according to the American Cancer Society. FAP and HNPCC syndromes are the most frequent genetic-based colorectal cancers, with HNPCC more common, accounting for 5 to 8 percent of colorectal cancers, according to the American Society of Colorectal Surgery. HNPCC, which commonly presents as right-sided colon cancer, is associated with other cancers, including uterine, ovarian, stomach, liver, gallbladder, kidney, bladder and small intestine. Knowing a patient has HNPCC aids in monitoring for these other cancers. “Your risk of getting colon cancer is about 80 percent if you carry one of the HNPCC gene mutations and about 50 percent for endometrial (uterine) cancer,” says Bartus, adding incidence of HNPCC recognition in patients is increasing with discovery of more genes found to be associated with the syndrome and greater physician awareness. What started out as stomach pains for Agatha Soucier, 39, an HCC cardiac technician, led to a surprising colorectal cancer diagnosis in April. The New Britain resident, who has no family history of colorectal cancer, was shocked at the news. Her diagnosis followed a colonoscopy and led tosurgery by Bartus, who removed 12 inches of Soucier’s colon. In June, she began chemotherapy, which continued into early 2010. Having gotten cancer at a young age, Soucier, whose mother died of uterine cancer, opted for HNPCC genetic screening, following counseling with Steinmark. One of Soucier’s greatest concerns is how genetic testing might benefit her children. “As long as it helps out my kids, that’s the part now — to make sure they get screened properly,” she says. Soucier found out she was negative for HNPCC, and does not need further genetic testing. She feels a sense of relief but knows a genetic connection is still possible, considering her mother’s uterine cancer. “The kids still have to get tested earlier for prevention,” says Soucier. This means her three teens will need colonoscopy screening starting at age 28, 10 years earlier than the age at which her cancer was detected. “Whatever help is out there, you might as well take advantage of it,” Soucier says.

Moving forward

Opting for genetic testing requires a certain amount of courage. LeBrun is glad she did it. “The fear of the unknown is worse than the fear of knowing because you are always wondering,” she says. As she expected, LeBrun tested positive for BRCA 1. “I needed to have the information, especially for my children,” she says, adding she’ll discuss care options, including closer monitoring for breast cancer, with Hoffman. After hearing of his mother’s positive diagnosis, her son and LeBrun-Griffin’s brother, Gregory LeBrun, 37, of Bristol, also opted for genetic counseling and testing. He tested positive for BRCA 1, which means an increased risk of prostate cancer and a smaller risk for breast cancer. It also prompts the need for prostate cancer screening, namely at age 40; and breast exams, including self, clinical and possibly mammograms. The father of two children, LeBrun is concerned about what having a BRCA 1 mutation will mean for his daughter, Farah, 4, and son, Brody, 2. “They’ll be able to, once they’re adults, make the decision to have the test for themselves. Hopefully, it will be negative. But if not, at least they’ll be prepared for what they have to do as far as screening,” he says. His sister was tested for both BRCA 1 and 2, since cancer is also on her father’s side. She tested negative for BRCA 1 and weeks later learned that while she has a variation in BRCA 2, it’s not a mutation confirmed in the genetic field. “Part of me wants to jump for joy that I don’t have the mutation my Mom has,” says LeBrun-Griffin, “but I can only half jump because I could still have a different one that we don’t know about yet.” While she would have preferred closure, LeBrun-Griffin adds she’s not afraid or anxious, and anticipates more medical vigilance with her own preventive screenings. “We’ve come such a long way medically,” she says. “Instead of being a victim of cancer, we now have an opportunity to get ahead of it.”

Is genetic counseling for you?

Adults who had cancer at a young age or have had two or more cancers such as breast, ovarian or colon, or a family history of certain cancers, are eligible for genetic counseling and testing through the Katherine Ann King Rudolph Hereditary Cancer Genetics Program at The Hospital of Central Connecticut. Physician referral is required for genetic testing, not for a consult. Insurance usually covers testing for patients at risk of hereditary cancer. For more information, please call 860-224-5900 x6630.