Thomas Jefferson University's new Familial Colorectal Cancer Registry is more than just a database of faceless patients. While participants can benefit from learning about their individual and family's risk of developing cancer, scientists are hoping that by detailing a family's and patient's history of disease, they will learn more about the nature of cancerous tumors, in addition to how the disease develops. They hope that ultimately, they will be able to use the registry, the only one of its kind in Philadelphia, to locate additional molecular clues to the origin of cancer.
According to Dr. Robert Fry, professor of Surgery, Jefferson Medical College, and Director of Colorectal Surgery at the Kimmel Cancer Center, Thomas Jefferson University Hospital, the goal of the registry is to collect information and blood and tissue samples from families who have a higher-than-normal risk of colon cancer. Researchers are looking for clues of new and improved genetic markers, which they hope will aid them in perfecting diagnostic tests to study the predisposition of family members to colorectal cancer.
To date, 35 members of 24 families participate. Operations director Deborah Rose expects to have hundreds of new registry members in the next year, many of whom are already in the process of enrolling.
A typical patient is referred to the registry by either a physician, or is self-referred or referred by a family member. The patient's family history is taken, and if he is deemed to be at high risk, a more detailed history is taken. "Once eligibility is determined," Ms. Rose says, "counselors explain the role of genetics in colorectal cancer, and the fact that risk increases with the number of affected family members. We explain that the registry gathers information and tissue samples from patients and families and how the process works."
Jefferson Registry
There are several criteria to participate. Patients may either have a history of a particular type of inherited colorectal cancer, such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer, or have a family history of these diseases. Others who are eligible include those who have had colorectal cancer diagnosed before age 30 and patients with a first-degree relative (parent, sibling, or child) diagnosed with colorectal cancer before age 50.
Ms. Rose notes that participation is easy: a health history and a blood sample are taken, and family history will be discussed with a genetics counselor. A colorectal cancer risk assessment is performed, and current American Cancer Society guidelines for screening and surveillance are discussed. All information remains confidential, she adds. "If a patient fulfills the criteria for genetic testing," says Rose, "Thomas Jefferson offers clinical genetic testing for hereditary forms of colorectal cancer."
Ms. Rose points out some obvious benefits for patients: By knowing your genetic profile and colon cancer risk, physicians can recommend appropriate screenings and potential preventive surgeries. For example, a patient who has a higher-than-usual risk may be a candidate for more frequent colonoscope screenings, she notes. Family members may also want to plan their own care accordingly based on such risk information.
In addition, finding cancers early means a better chance of cure, and perhaps avoiding more extensive treatments such as radiation and chemotherapy.
Not everyone wants to know his genetic status regarding hereditary colorectal cancer. Rose explains: "A patient who had had colorectal cancer at age 35 came in recently. His mother had had two bouts with the disease. He knew he had a genetic predisposition for the disease, and he felt that testing wouldn't change anything." Still, she points out, "knowing his genetic profile could help his children and his siblings in making decisions regarding presymptomatic screening."
For more information about the Familial Colorectal Cancer Registry and clinical genetic testing, call 1-800-JEFF-NOW..