Armed with Information

Patients find powerful tool in Novant’s genetic counseling

Genetic Counselor HorizontalOctober is Breast Cancer Awareness Month, and while many advancements have been made through the years, breast cancer remains one of the most common cancers among women in the United States. At Novant Health New Hanover Regional Medical Center, genetic counselor KATIE GRIFFIN helps women better understand their risk of developing breast cancer and make more informed choices about preventative measures they can take.

Griffin primarily works with patients who have either a personal or family history of cancer. “I talk with them about whether they could have been born with any genetic changes that put them at a higher risk for cancer or otherwise explain why they were diagnosed with a cancer,” Griffin says. “With many patients, I discuss what clues may indicate that a risk of cancer runs in the family and what genetic testing entails. For patients who have already had testing, I talk about what their results mean for them and their family members.”

Thorough, accurate testing is especially important for patients like BRITTNEY ALLEN, who found her cancer through a breast self-exam at home. “I am 43, married with three kids, so I am rather young, but I hear more and more about younger women being diagnosed with breast cancer. My grandmother passed away from breast cancer, and I told my doctor when I went in that I was prepared for it to be genetic,” Allen says.

Not all people with a family history of breast cancer inherit gene changes that increase their personal risk. But for women with a personal or family history, knowledge of their genetic predisposition makes a significant difference in the plan of action for treatment once they are diagnosed. “If it does come back as genetic, that takes you from having a lumpectomy to having the possibility of doing a double mastectomy because of the possibility of the cancer returning,” says Allen. Genetic testing also alerted her to an elevated risk of other types of cancer. Allen admits that prior to her diagnosis, she was like many women who put their own health on the back burner while raising young children and putting work responsibilities first. “I now know that it is important for me to keep those appointments and not put them off like I used to do,” she says.

Early detection is the single most important part of breast cancer treatment, and genetic testing can help people stay a step ahead with a customized plan for prevention. “If someone has a positive result through genetic testing, meaning they have some mutation or genetic change that we know is associated with an increased risk of breast cancer, we might recommend a breast MRI in addition to mammograms. This is to catch breast cancer as early as possible,” Griffin says. “For some mutations, we might discuss the option of a risk-reducing double mastectomy to remove the breast tissue and lower the patient’s risk of developing breast cancer as much as we can.”

It never hurts to know all the options available if there is any concern. “I would encourage anyone who may be concerned that they have some kind of genetic predisposition to cancer to contact one of our providers and ask about a referral to genetic counseling,” says Griffin. She emphasized that these genetic changes can be inherited from both sides of a person’s family tree. “Fathers can pass these increased risks for breast cancer onto their daughters, not just mothers. Furthermore, some genes that increase the risk for breast cancer also increase the risk for prostate cancer, and so it can be potentially beneficial for anyone, male or female, to consider genetic testing,” she says.

While genetic testing is available through some direct-to-consumer (DTC) tests, Griffin noted that many DTC tests only look for a handful of the gene mutations that could indicate increased risk of developing breast cancer. “For example, a popular DTC company may offer testing for BRCA1 and BRCA2, but they are only looking for three particular genetic changes and ignoring the rest of the genes,” she says. “A positive result is reliable, but a negative result for this sort of test cannot rule out some other mutation in BRCA1 or BRCA2 that could have important implications for that person’s health. It is my job to make sure that we are testing the right genes and that the lab is looking at as many of those genes as they can.”


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Categories: Features, Health