Women & Health: Cancer Genetic Counseling

Ellen T. Matloff, MS

NEW HAVEN – Ellen T. Matloff is director of cancer genetic counseling in the department of genetics at Yale Cancer Center, where she is also a research scientist.
The Yale Cancer Center Cancer Genetic Counseling Program provides genetic counseling and testing to people at increased risk for hereditary cancer and helps them to make informed medical decisions based on their own personal risk assessment. These interventions can help those at risk to better manage their health and reduce the chances of ever developing cancer.
Matloff spoke with the Ledger about Jewish genetic risks for cancer, and how genetic counseling and testing can help in assessing and treating those conditions.

Q: What are the particular genetic diseases that affect Jews?
A: In terms of cancer genetics, people of Jewish ancestry are at increased risk to carry mutations within the genes called BRCA1 and BRCA2. Female carriers of these mutations are at increased risk for breast and ovarian cancer. Men are at increased risk for prostate and male breast cancer. Both are at increased risk for pancreatic and bile duct cancers and melanoma.

Q: Who can benefit from genetic counseling and testing?
A: Individuals who have a personal and/or family history that includes any of the following: multiple relatives on the same side of the family with the same cancer or related cancers; cancer at unusually early ages, such as breast cancer younger than 45 years old, or colon cancer younger than  50 years old; more than one diagnosis of cancer in the same individual, for example, breast and ovarian cancer in one person, or colon and uterine cancer in one person; rare cancers, such as male breast cancer, or medullary thyroid cancer; or a family history of a known altered cancer-predisposing gene.

Q: How does genetic counseling work, in general? How does cancer genetic counseling work, specifically?
A: Genetic counseling is a process that includes collecting a detailed personal and family history, a risk assessment, and a discussion of the genetic testing options. The risks, benefits, and limitations of the available testing options and personalized cancer screening and risk reduction recommendations are also discussed during the counseling sessions.
The cancer genetic counseling and testing process, including which test to order and interpreting the results correctly, can be quite complex. Studies have shown a high rate of genetic test result misinterpretation among providers who do not specialize in this area. Due to the complexities of this process and the risk of result misinterpretation, it is recommended that individuals interested in pursuing cancer genetic counseling and testing see a cancer genetics specialist.
We counsel patients on their personalized risks to carry these mutations or mutations within other hereditary cancer genes. We discuss the risks, benefits and limitations of the testing, how the information can be used to tailor their medical management, options for prevention and surveillance, and the impact on other family members.

Q: What treatments are available for these diseases?
A: We have options for risk reduction and early detection and surveillance. There are also some exciting new targeted therapies that may be more effective in BRCA carriers with advanced cancers.

For more information on cancer genetic counseling at Yale Cancer Center: www.yalecancercenter.org/genetics / (203) 764-8400

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