As one might anticipate, caring for patients with hereditary colon cancer syndromes and providing support for families is extremely complex. Furthermore, many physicians have limited knowledge and experience in treating patients with these conditions. As a result, patients and families may receive inaccurate information regarding treatment, screening or surveillance. In fact, a recent study investigating the proper use of genetic testing in one of these syndromes (familial adenomatous polyposis, or FAP, for short) showed that over 80 percent of patients tested did not receive proper genetic counseling, have informed consent or receive correct interpretation of the test results.

Treatment recommendations are another major source of concern. Although a cancer may develop in one part of the colon, the entire colon and rectum are at risk for new cancer development in the future. The decision as to how much of the colon and rectum should be removed and how to restore the intestinal function is based on several factors. Patients may undergo the wrong operation with need for another surgery to remove a second cancer, or too much surgery with permanent loss of function.

Hereditary cancer registries are designed to address these issues. The components of a registry include a physician director, a registry coordinator, a data manager, genetic and psychiatric counselors, and specialty physicians able to manage the entire range of conditions resulting from the syndrome. The physician director has special expertise in the management of hereditary colorectal cancer syndromes. The registry coordinator organizes and conducts daily activities (patient contact, scheduling and correspondence) and special programs of the registry. Genetic and psychiatric counselors are available to educate patients and their families about the familial and social implications of the syndrome and genetic testing. They also provide support in coping with the psychosocial aspects of the family’s syndrome. The benefits of a registry for hereditary colon cancer syndromes are great. These benefits are realized by patients, their families and society as a whole. Individual patients benefit from involvement in a registry by receiving expert medical advice based on thorough knowledge of, and experience with, these syndromes. This includes patient education in understanding the condition, appropriate cancer screening recommendations, guidance of medical care through lifelong contact and referral to appropriate resources for managing nonmedical concerns associated with the syndrome.

Family benefits include early identification of at-risk relatives, guidance in proper cancer screening activities and addressing family planning concerns. One of the greatest impacts of a registry is its ability to identify distant relatives at risk for a particular syndrome and reduce the incidence of cancer in these individuals by ensuring that these individuals at risk are identified, screened and treated in a timely fashion.

Finally, society has and will continue to benefit from research done in these syndromes. For example, research in FAP has advanced our understanding of the molecular events underlying the development of cancer in that syndrome. These advances have also been applicable to nonhereditary colorectal cancer as well as familial colorectal cancer in the Ashkenazi Jewish population. We may ultimately use this knowledge of the genetic and molecular pathway to cancer to identify ways to interrupt the pathway and prevent colorectal cancer.

There are currently 140 registries in 30 countries throughout the world. There are 32 registries in the United States and four in Illinois and surrounding states. The services provided by the Sandra Rosenberg Registry for Hereditary and Familial Colon Cancer are free of charge. All information obtained is kept strictly confidential. All tests and treatments recommended can be coordinated with each patients local health care providers. Specific tests and treatments are not included in the free services but are usually covered through typical health insurance plans.