Is Genetic Testing Right for You?
By Janice W. Brooks, M.D., Board Certified Diagnostic Radiologist
Since 1985, the U.S. has dedicated the month of October to a national focus on the screening, prevention and survivors of breast cancer. The increased focus on education, screening and lifestyle changes has been a critical tool in driving down both the number of deaths and new diagnoses of breast cancer.
Genetic testing has quickly become a more mainstream practice, both for human interest about one’s ancestry, and for the purpose of understanding how that ancestry might increase our risk for certain diseases. Recent medical news has focused on the BRCA genes and their role in increased cancer risks, and now there are affordable, at-home testing options for those with specific risk factors.
The two BRCA genes – BRCA1 and BRCA2 – normally help protect women from cancer. However, some women experience a mutation of these genes that can actually lead to cancer. According the Centers for Disease Control and Prevention (CDC), women with a BRCA gene mutation are seven times more likely to be diagnosed with breast cancer, and 30 times more likely to get ovarian cancer, when compared with women without the gene mutations.
So, should all women be tested for the BRCA gene mutation? The experts say, absolutely not.
It’s important to keep in mind that gene mutations are only a small part of the breast cancer story. It’s true that having an immediate family member with breast cancer can double your risk of being diagnosed. But it’s also true that more than 80% of women who get breast cancer have NO family history of the disease. There are many other factors, some inside and some outside of your control.
Both the U.S. Preventive Services Task Force (USPSTF) and the medical community agree there are certain risk factors that indicate a woman should seek genetic counseling, and BRCA testing if recommended after counseling:
A family history of someone having a positive BRCA mutation
Ovarian, tubal or peritoneal cancer at any age in a family member
Breast cancer in a family member before the age of 50
Triple-negative breast cancer before the age of 60
Male breast cancer in any family member
People of Ashkenazi Jewish ancestry
Two or more family members with breast cancer, on either side of the family
Beyond BRCA genes, there are more than 30 gene mutations associated with various types of hereditary cancer. Tremendous information can be gained through genetic testing, but it’s important to work with your physician and/or a genetic counselor to ensure you pursue the right options for you.
Genetic testing is exciting, but in no way does it reduce the need for vigilance on the more prevalent risk factors for cancer. A healthy, whole food diet, regular exercise, regular mammograms and a no-smoking policy, are still by far the most critical tools for preventing all forms of cancer.
The thought of having breast cancer can be frightening, which makes it tempting to avoid this sensitive subject. But being proactive is a woman’s best bet in the fight against breast cancer. Routine preventive care is the best way to keep you and your breasts healthy, since the detection of breast cancer at its earliest stages provides the greatest opportunity for successful treatment. Here is a Three-Step Plan:
Step 1: Breast Self-examination (BSE)
All women, ages 20 and older, should perform breast self-exams to familiarize themselves with their breasts so any changes are more quickly identified. BSE should be done regularly at the same time each month. Changes may include: Development of a lump, swelling of the breast, skin irritation or dimpling, nipple discharge other than breast milk, or other nipple abnormalities (pain, redness, or turning inward).
If any of these changes are noticed, see your health care provider as soon as possible for evaluation.
Step 2: Clinical examination
A breast examination by a doctor or nurse trained to evaluate breast problems should be part of a woman’s physical examination. A clinical breast examination is very similar to the procedure for breast self-examination. Women who perform BSE regularly will be prepared to ask questions and have any concerns addressed during a clinical exam. The American Cancer Society (ACS) recommends:
Between ages 20 and 39: a clinical breast examination by a health professional every 3 years.
After age 40: a clinical breast examination by a health professional every year.
Step 3: Digital and Diagnostic Mammography
Mammography is a low-dose x-ray of the breasts and is the most common imaging technique. Mammography can detect cancer before a lump becomes large enough to be felt. The American Cancer Society recommends yearly screening mammograms for all women ages 40 and older. Women who may be at increased risk for breast cancer should talk with their health care provider about having their mammograms at an earlier age or more frequently. The Outpatient Imaging Center and the imaging department at Medical Center of South Arkansas offer digital and diagnostic mammography, technology that allows images to be magnified and adjusted on a computer screen for better visualization.
Genetic testing is another tool for early intervention and managing increased risk, and should be used judiciously. If you meet the criteria set by the USPSTF, talk with your doctor about the best prevention and genetic testing for you.
Janice W. Brooks, M.D. is a board certified diagnostic radiologist at Medical Center of South Arkansas. She also performs biopsies including the breast, thyroid, kidney and liver. For help finding a primary care physician or breast care specialist, go to Find A Doctor online at theMedCenter.net.