Genetic testing can help manage breast cancer risk


Many women have watched their mothers, siblings and other loved ones experience the often devastating and deadly effects of breast and ovarian cancers. Naturally, such women will wonder and worry about their own risks of developing cancer and, of course, worry about what cancer risks their own children may face as adults.

Although most breast and ovarian cancer does not have a significant genetic basis, about 10 to 15 percent of breast and ovarian cancers have a significant hereditary component. In these families, genetic testing can play a critical role helping women understand their own risks of developing cancer and what they can do to help prevent it.

Presentation on breast cancer genetics

Robert Resta will discuss the genetics of breast cancer Oct. 24, from 6 to 7 p.m. in the Providence St. Mary Medical Center Providence Room.

The presentation is free and open to the public.

Resta has published many articles on the clinical, ethical, social, and historical aspects of genetic testing. He was recently awarded the Natalie Weissberger Paul Award by the National Society of Genetic Counselors for lifetime contributions to the profession and practice of genetic counseling.

More than a dozen different genes have been linked to hereditary breast and ovarian cancer, and more genes are being uncovered. However, far and away the most common are BRCA1 and BRCA2. These are the same genes that Angelina Jolie was tested for when she recently revealed her own family’s experience with breast and ovarian cancer.

Women who have a positive BRCA gene test face much higher cancer risks than the average woman but it is also important to remember that not all women who test positive will develop cancer. Fortunately, women who test positive can take measures to lower their chances of developing cancer or help detect it at the earliest stages when it is most treatable.

For example, starting cancer screening earlier in life and undergoing a high-risk screening program can help detect cancer at its earliest stages. Some women undergo risk-reducing surgery to help lower their chances of developing cancer.

And women who have normal test results can rest assured that they are at no greater risk of developing cancer than any other women, and do not need to undergo the stress of high risk screening. The emotional impact of genetic testing can be as great as its medical impact.

Women should consider genetic testing for hereditary breast and ovarian cancer if:

  • They have been diagnosed with breast cancer before age 45
  • Have been diagnosed with ovarian cancer at any age
  • Have two or more relatives diagnosed with breast cancer on the same side of the family, especially if a relative was younger than 50
  • If there are men with breast cancer in the family
  • If you have a personal or family history of breast and ovarian cancer at any age and are from a high risk population, like Eastern Europeans, Jews or Icelanders.

Genetic testing usually involves a simple blood draw or a saliva sample. Although the testing can cost several thousand dollars, most insurers cover the testing for high-risk women. Although many women worry about the possibility of insurance discrimination based on genetic testing, federal legislation called the Genetic Information Non-discrimination Act of 2008 (GINA) prevents health insurance discrimination based on family history.

Although many women have trepidations about undergoing genetic testing, most women who have undergone testing find it an empowering experience that helps them better understand and manage their cancer risks.

Robert Resta has been a genetic counselor at Swedish Medical Center in Seattle for 30 years and is currently the supervisor of Swedish’s Hereditary Cancer Clinic.


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