To test or not to test?

Ellen Futterman, Editor

Genetic counselors say the first step in deciding about genetic testing is to speak to your gynecologist or primary care doctor about your family history. Be sure to include:

• Blood relatives (grandmothers, mother, sisters, aunts, daughters) on both your mother and father’s side of the family who had breast cancer.

• Any incidence of breast and ovarian cancer in your family, particularly in a single person.

• Other gland-related cancers in your family, such as pancreatic, colon and thyroid cancer.


• Women in your family who have had cancer in both breasts.

• If you are of Ashkenazi Jewish (Eastern European) heritage.

• A man in your family has been diagnosed with breast cancer.

While BRCA 1 and BRCA 2 gene mutations have received the lion’s share of attention in the press, there are other genes associated with a high risk for breast and ovarian cancer and other cancer syndromes. 

Ideally, it’s best to test a family member who has already been diagnosed. “We test an affected family member first, when possible, to identify the underlying gene mutation responsible for the cancer predisposition in the family,” says Jen Ivanovich, a genetic counselor at Washington University School of Medicine. “If a mutation is identified, then other members in the family can be tested because we know what has caused the cancer predisposition.”

Of course, not all families have living affected members to start testing, or a living affected member who even wants to be tested in the first place. Ivanovich stresses that those concerned about hereditary cancer contact their doctor, and talk to a board certified genetic counselor, specially trained to understand and provide information about genetics and disease.