Breaking cancer's family ties

Sandi Thompson's father was first diagnosed with colon cancer at age 54. He died after three cancer recurrences. Her paternal uncle died of colon cancer, too. Her brother succumbed to pancreatic cancer. Her sister survived a cancerous tumor. Eight years ago, at 52, the normally energetic Thompson started having trouble even climbing stairs. A visit to her physician revealed severe anemia caused by internal bleeding from cancer in her colon.

Thompson's cancer was successfully treated, but three years ago, cancer struck again — in her youngest daughter. The 34-year-old became extremely anemic during a pregnancy and complained of pain in her side. Three weeks after giving birth, she not only had a newborn daughter but also newly diagnosed colon cancer. "I never, ever dreamed that my youngest child would have this," said Thompson, who had always considered colon cancer an "old man's disease" until life proved otherwise.

The cluster of cancer episodes experienced by Thompson's clan was more than just bad luck. The frequency is an indicator of a cancer-family syndrome, in which an unusually large number of blood relatives develop certain kinds of cancers, typically at an early age. About 5 percent of all colon-cancer cases occur within one of these cancer-family syndromes. It's estimated that only one person in 10 with this susceptibility is getting the vigilant screening and monitoring needed in such a high-risk situation.

The Seattle Cancer Care Alliance's Gastrointestinal Cancer Prevention Program is working to change that. The service is the region's only dedicated program for surveillance, prevention and counseling for people at high risk of gastrointestinal (GI) and related cancers because of genetics, family history or personal history.

"It's a unique resource in the Northwest. There isn't anything else like it in the area," said Dr. Bill Grady, medical director of the two-year-old program. The program's clinic sees patients two mornings each month on the fourth floor of the SCCA.

Using a multidisciplinary and personalized approach, patients meet with a team of experts, including a gastroenterologist with expertise in high-risk patients, a medical geneticist, a genetic counselor, a nutritionist and, if needed, a gynecological oncologist.

With the goal of preventing cancer altogether or at least detecting it at an early and more curable stage, the team reviews a new patient's personal and family risk factors and medical history and gathers pathology records and/or previous tumor-tissue samples. Over the course of several visits, the clinic staff suggests appropriate ways in which to prevent the cancers the patient is at risk of developing. This might include genetic testing of the patient and other people in his/her family who may have inherited a high risk for cancer. Often the testing involves sharing the results with extended family, which can lead to a more accurate understanding of the family members' true cancer risk and better preventive care.

"If we can identify the particular gene causing cancer in a family, it becomes very powerful information to look at the rest of the family to figure out who specifically has inherited the risk and who hasn't," Grady said. "We develop a care plan for the whole family." The staff is working with one Washington family that has 50 members identified at high risk of cancer.

The counseling component

The genetic testing goes hand in hand with counseling, as the results are often not straightforward. "A key part of this program is explaining what the test results mean for them, for their children, and helping people deal with the information constructively," said Grady, who started and ran a similar clinic at Vanderbilt University before coming to the Center in 2004. "Sometimes we see very high-risk patients in denial. One of my patients is a young woman who has a genetic mutation that gives her a 100 percent chance of getting colon cancer. She can't come to grips with it so she's not doing anything. Our challenge in this clinic is to help these people deal with the emotions that accompany the diagnosis of a high cancer risk. We figure out ways to help people understand that risk and show them that often we can prevent the cancers with a carefully designed cancer-prevention program."

To prevent cancer, the team recommends lifestyle adjustments like healthy eating (with the support of a Center nutritionist) and very intense surveillance of its patients, like endoscopies done on a six- to 12-month basis for life. Endoscopic exams include colonoscopies and sigmoidoscopies, which use a flexible, lighted tube to check for benign or cancerous growths. The SCCA and University of Washington employ cutting-edge imaging and diagnostic equipment for these exams. In addition, there are several ongoing studies searching for biomarkers for cancer in which these individuals have the opportunity to participate.

In many of the cancer-family syndromes, affected family members are at risk for non-GI cancers, so coordinated care for screening and treatment by non-GI oncologists is part of the clinic's approach.

Because the number of people who have these conditions is small, Grady said, it's difficult for many community physicians to manage their care optimally. The clinic advertises itself as a resource to doctors in the community, providing state-of-the-art recommendations regarding the management of these patients. When appropriate, the SCCA physicians provide the primary care for these individuals and direct their cancer-surveillance programs.

"Because we have so many physicians, as well as genetic counselors and a nutritionist involved in the care, it's tough to replicate that in the community setting," Grady said, pointing out that he and his team of attending physicians — Drs. Gideon Steinbach, Teri Brentnall and Elizabeth Swisher — are nationally recognized experts in the care of such patients.

Responsive to patient needs

"Many times, when a doctor refers a patient to us, we receive multiple referrals from that doctor," Grady said. "I believe they refer other family members to us because the services we provide in the clinic include not only helpful recommendations from expert clinicians, but also because the patients enjoy the clinic experience." Angie Brothers, a certified genetic counselor who serves as the clinic coordinator, has created an efficient clinic process that is responsive to patient needs.

Though the prevention program is currently focusing on patients with a cancer-family syndrome, the team will eventually see patients who are at higher risk for GI cancers because of a personal or family history of cancer that doesn't meet the clinical definition of any of the defined cancer-family syndromes. The clinic will likely see patients on a more frequent basis as part of the development of the SCCA's Prevention Clinic.

With that expansion, Grady and his team plan to create a registry to enable long-term care of their patients, who have come from as far away as Mexico and Italy. "We want a system to track these patients for the rest of their lives and store information about their health care: Are they getting surveillance? Who's doing it? How often? Are they getting reminders?" he said. "The field of cancer genetics is moving at lightning speed. We might find a new gene we need to pay attention to, so someone who was tested five years ago, but who had negative test results, might want to be retested. We want to be a resource for these families, a place where people feel comfortable and can ask questions and get advice."

'New era of molecular medicine'

Grady is also doing translational research in his Clinical Research Division lab. His efforts, supported by the Early Detection Research Network, focus on identifying molecular markers to create highly accurate screening tests. Current endoscopic tests are effective but invasive and occasionally bring complications. If simple tests using blood, urine or stool samples were developed, people would likely be screened more frequently and consistently. Grady's eventual goal is to have all of the clinic's patients enrolled in molecular-marker clinical trials to further the research. Currently, just 10 percent of the patients enroll in trials.

"The clinic is exciting because it brings together the cutting-edge research that's going on at the Center and UW Medical Center with the cutting-edge clinical care we're able to offer at the SCCA," Grady said. "Combining the two ushers in a new era of molecular medicine."

For Thompson, her reasons for choosing the SCCA program are simple: "Going to the clinic gives me peace of mind," she said. "I want the best possible care for myself, and as a mother, I want answers about how to stop this in my family."