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Saint Agnes News

Title
Genetic Counseling – Know your risk
Start Date
05/15/2013
Article
 

Jennifer Anglin knew the lump in her breast was cause for concern. But when the need to care for other ill family members became pressing, she put her own health on hold. A year came and went, with still the same unusual lump. So when the “not knowing” began nagging her, she decided to find out for sure.

Days later, a mammogram and follow-up diagnostic tests confirmed that Jennifer did, in fact, have breast cancer. “I did not want to hear those words,” she says. “That fear is gripping.”

She was just 41 years old and had a history of breast cancer in her family, so Jennifer’s oncologist referred her for a genetic consultation at Saint Agnes Cancer Center. “Genetic counseling is the gift of knowledge,” says Dawn DeLozier, PhD, medical geneticist at Saint Agnes Cancer Center. “It helps us determine if individuals are at an elevated risk for certain types of cancer, which then allows them to make more informed decisions about the best way to care for themselves and their loved ones.”

Jennifer’s counseling sessions zeroed in on whether she carried a mutation in one of two specific genes – BRCA1 and BRCA2. Everyone has BRCA genes, but about 60 to 80 percent of women who inherit an abnormal BRCA1 or BRCA2 gene will develop breast cancer, reports the National Cancer Institute. These women are also more likely than others to develop more than one breast cancer, ovarian cancer or other cancers during their lifetime.

Learning whether Jennifer carried a BRCA gene mutation was about much more than her own health journey. It would determine whether other family members – including her 12-year-old daughter – were at greater risk. “You don’t want anyone to go through this, let alone your own daughter,” she says.

Inside information
During a typical counseling session, patients go through a genetic risk assessment based on a complete family history analysis and medical records review, an explanation of testing options, and – in some cases – a simple DNA blood test.

For those who are found to carry a mutated copy of BRCA1 or BRCA2, knowing helps determine the best medical management.

It also determines whether other family members should be tested for the abnormal gene. “But,” Dr. Delozier adds, “It’s important to remember that less than 10 percent of breast cancer is based on an inherited gene mutation.” Armed with this important information, Dr. DeLozier refers many of her high-risk breast cancer patients to Saint Agnes Medical Center’s Breast Clinic. Here, a multidisciplinary team of specialists – including radiologists, surgeons, medical and radiation oncologists, a geneticist, and a Nurse Navigator – work hand-in-hand to develop a personalized plan and carefully monitor patients for any changes.

Those who are at elevated risk for breast cancer may be referred for more frequent mammograms, annual MRIs or other measures to catch breast cancer as early as possible.

Good news
For Jennifer, relief came the day she returned to Dr. DeLozier’s office to learn that her BRCA1 and BRCA2 mutation test was negative, which meant there was no fear of passing a faulty BRCA gene to her daughter. After undergoing a series of successful cancer treatments, Jennifer is celebrating being more than 18 months cancer-free and is counting the blessings of having more answers. “Knowing is so much better,” she says.

To learn more about genetic counseling or a hereditary predisposition to cancer, talk to your doctor or visit www.samc.com/genetic-counseling.

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