UConn Cancer Experts Answer Questions About Genetic Counseling & Testing

Answers Aren’t Always Black and White; Prevention Depends On Multiple Factors

FARMINGTON, CONN. – It seems so easy. The next time you are shopping online for books or holiday gifts, you can also order a kit containing a blood test to determine your risk of breast and ovarian cancer – two of the most dreaded women’s cancers.

Experts at the University of Connecticut Health Center, however, warn that this is not an optimal approach to understand your breast and ovarian cancer risk.

“I would never recommend genetic testing outside the context of comprehensive, confidential genetic counseling that gives a woman a thorough look at her unique risk profile,” said Molly Brewer, M.D., director of the Division of Gynecologic Oncology at the UConn Health Center’s Neag Comprehensive Cancer Center.

“Genetic counseling is a smart choice for any woman who has a significant family history of cancer or other risk factors. It can help her understand her estimated probability of developing cancer and what she can do to lower her risk,” Dr. Brewer said. “However, genetic testing is not necessary for everyone.”

Under Dr. Brewer’s leadership, the Health Center is starting a new Women’s Cancer Prevention Program. The program includes genetic counseling services and offers women a thorough approach to understand their risk factors and to create personalized prevention strategies.

“There is so much more to cancer prevention than testing. Our program follows women continuously, offering new approaches to prevention that range from help with lifestyle changes to opportunities to participate in clinical studies aimed at prevention,” Dr. Brewer said.

What is Genetic Testing?

“After careful assessment of both family and personal risk factors, genetic testing may be recommended,” explained Robert Greenstein, M.D., director of the Health Center’s Division of Human Genetics.

Researchers have identified two major breast and ovarian susceptibility genes, BRCA1 and BRCA2. The lifetime risk for breast cancer for women with BRCA mutations is between 50 and 85 percent. The lifetime risk for ovarian cancer varies even more significantly between families, but may range between 20 and 60 percent, he said.

The decision to participate in BRCA1 or BRCA2 testing may be a difficult one, stressed genetic counselor Robin Schwartz, M.S.

“For some women, the choice is straightforward, for others, it is more complex. The results can also be confusing. The presence of either of these genes does not guarantee that a woman will develop cancer, nor does the absence guarantee that she won’t,” she said.

“We offer recommendations based on probability,” Schwartz added, noting that recommendations range from frequent screening tests and lifestyle changes to medications or risk-reducing surgery.

“Plus, it is important to remember that some hereditary cancers are caused by susceptibility genes that have not yet been identified,” she said. “So, individuals without a mutation may still be at risk. Test results have to be interpreted for each patient. In addition, some individuals may have uncommon mutations that are not likely to be detected with current technology.”

What is Genetic Counseling?

“Information can be power. Knowing an estimated risk of developing a hereditary cancer can help people make important decisions regarding lifestyle, frequency of screening tests, medication, and other options,” said Health Center genetic counselor Jennifer Stroop.

Genetic counseling includes a complete evaluation of each patient’s family and personal medical history. Individualized genetic cancer risk assessment is calculated for each person. This is followed by a thorough discussion of appropriate screening and management options.

Who Should Consider the Women’s Cancer Prevention Program?

The new Women’s Cancer Prevention Program at UConn Health Center can be helpful to any woman who is concerned about her risk of developing cancer. Risk factors to consider include:

• A personal cancer diagnosis at an early age (under 50)
• Significant family history of cancer, affecting more than one close relative – parent, sibling, child, grandparent, aunt or uncle, on either side of the family
• Clusters of cancers in families including pancreatic, stomach or brain cancer
• Relatives with a known genetic predisposition to cancer

“By helping women understand their risk of cancer, or recurrence of cancer, we can work with you to create meaningful prevention strategies,” Dr. Brewer explained. “Because we are a university hospital, we also have many resources to draw upon to help women make informed decisions,” she added.

Caregivers in the Women’s Cancer Prevention Program include Dr. Brewer, genetic counselors Schwartz and Stroop, medical oncologists, breast health specialists, a social worker, psychologist, nutritionist and more.

“Our goal is to help women manage all facets of cancer prevention, from health care decisions to lifestyle changes,” Dr. Brewer added.

Quick Links

UConn Cancer Dialogue

A quarterly publication designed for medical professionals who are involved in cancer research or care of patients with cancer. Read the latest edition.