Press releases

Released November 16, 1995
Yale-New Haven Hospital news release

Yale Cancer Center
Launches Cancer Genetics Program

Yale Cancer Center, Ilene Shub Lefland, 203-785-4097

Rapid advances in cancer research, together with new tests to determine genetic susceptibility for cancer, are forcing us to face a myriad of complex and emotionally charged questions regarding testing, treatment and prevention. To meet this emerging challenge, the Yale Cancer Center has established a Cancer Genetics Program with a newly hired genetic counselor to help patients sort out the questions and determine an appropriate course of action.

While physicians and patients have observed for many years that some cancers occur with unusual frequency in certain families, only in the past few years have scientists begun to isolate the inherited genes responsible. Once isolated, these genes could then be examined for alterations or mutations that increase the risk of cancer. Tests are currently available to screen within some families for a genetic predisposition to breast and ovarian cancer, colon cancer, melanoma and some types of thyroid cancer.

Testing positive does not necessarily mean a patient will get cancer, but rather that the patient has a genetic mutation that increases the likelihood. "The tendency to get cancer can run in families," says Allen Bale, M.D., director of the Yale Cancer Center's genetics program. "You inherit a predisposition to the disease, not the disease itself."

Women who carry a genetic mutation for breast cancer, for example, are thought to run an 85 percent risk of getting the disease by age 70. That's compared to about a 12 percent risk in the general population. This inherited form of breast cancer, however, accounts for only about 5 percent of all cases.

There is very little genetic testing for cancer susceptibility being done now," says Susan Mayne, Ph.D., associate director for Cancer Prevention and Control at the Yale Cancer Center, the first Connecticut institution to offer a fulltime cancer genetics program. "For the most part, family histories have been relied upon to determine a course of action."

As the genetic tests for cancer become more widely available, the question of who should be tested looms larger. Initially, the Yale Cancer Center is offering testing only to those people with a family history of cancer. But even within that population, testing may not always be appropriate. It is the role of the genetic counselor to help prospective patients decide whether they even want to have a test.

"It's important to educate patients before testing so they can decide what's right for them," says Yale Cancer Center Genetic Counselor Ellen Matloff, M.S. "Some patients don't want to know--it would impair their quality of life. For others, knowledge is empowering; it can help them plan and make important life and lifestyle decisions."

Once a genetic predisposition to cancer is determined, the big question is what can we do with this knowledge? "Just knowing you have a genetic susceptibility to cancer doesn't do much good if you can't do anything about it," says Mayne. "That's why our cancer prevention and control efforts and cancer genetics efforts are closely linked. We need to learn more about how to reduce the risk."

Much of what can be done in the way of prevention and treatment depends on the type of cancer involved. Lifestyle changes, such as exercising regularly, watching your diet and avoiding known carcinogens such as tobacco and sun exposure, are typically a first line of defense. Someone who knows he is prone to developing melanoma, for instance, can be more conscientious about avoiding the sun. In addition, early detection can often make a significant difference in treatment options and overall prognosis.

Aggressive screening--begun earlier than usual and repreated more frequently--is recommended for those with a genetic predisposition to cancer. For women at genetic risk for breast cancer, more frequent breast exams and mammograms are advised. Vigilant screening is also suggested for those at risk for melanoma, which when caught in the early stages, can often be treated surgically. "Early detection and surgical cure is a recurring theme," says Bale.

Another less conservative option is prophylactic surgery. Individuals with a strong family history of certain cancers who test positive for a genetic mutation may consider surgical removal of their breasts, ovaries, colon or thyroid to lower their risk of developing the disease.

The potential benefits of testing for genetic susceptibility must be balanced against the many ethical, legal and social questions raised by this newfound knowledge. How will people cope with knowing their genetic risk? Who should even consider testing? How do family dynamics come in to play if one person tests positively and one negatively? How will society use genetic information? People identified as carrying cancer genes may lose their health insurance or be excluded from coverage. Job discrimination is another concern, all of which underscore the importance of patient confidentiality in research studies.

"Cancers are very common and very costly diseases," notes Mayne. "It's conceivable that in 10 years insurance companies may require blood tests for cancer susceptibility, which could open the door to insurance and employment discrimination. The need (for testing) is clearly there. But as in all of science, the technology often precedes the answers to the ethical issues raised by the emerging technology."

The Yale Cancer Genetics Program is supported by the Cancer Center Support Grant Fund and the C.G. Swebilius Trust. For more information about the program, call 203-785-5938. For answers to other cancer-related questions, call the Cancer Information Service at 1-800-4 CANCER.

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