The Role of Genetic Testing
When 28-year-old Candace Frederick of Miramar felt a bump under her armpit, she thought it was an ingrown hair. Not long after, a bit of blood discharged from her nipple. Frederick didn’t know what to make of her experiences, but she knew something wasn’t right.
She arrived at an imaging center to get a mammogram, but the staff told her that because she was so young, they would give her an ultrasound. “They said if we see anything, then you will get a mammogram,” she said. “And then they called me back in to do a mammogram.” From the ultrasound, mammogram, and eventual biopsy, Frederick learned she had calcifications on one side and a tumor on the other. She received a dual diagnosis: Stage 3, invasive cancer, in one breast and Stage 0, an early form of cancer, in the other. An oncologist came up with a treatment plan: the removal of her lump and some radiation.
Facing Big Decisions
But then, something happened that changed everything: Frederick underwent genetic testing.
The Impact of Genetic Testing
Genetic testing is done with blood, saliva, or cheek swabs and analyzes a person’s DNA for gene mutations that increase the risk of developing diseases. The past decade has seen a rapid expansion of genetic tests that also inform patients about their risk of breast cancer and recurrence and guide their treatment. Anyone over 18, especially someone with a family history of breast cancer, is eligible. Newer panel genetic tests now look at a dozen or more genes, including seven mutations with risk factors for breast cancer.
The BRCA Gene Mutation
Frederick had a family history of breast cancer on her father’s side. Her test results revealed she is one of 400 people with a BRCA1/BRCA2 gene mutation. Usually, BRCA genes prevent breast cancer by helping to repair DNA breaks that can lead to cancer and tumor growth. When those genes don’t work correctly, it is called a mutation. People with BRCA mutations carry a higher risk of getting breast cancer.
Should Everyone Do Genetic Testing?
Adar says everyone should learn their family medical history. “Filling in gaps in knowledge can be critical,” she said. If someone’s family history reveals cancer in first-degree relatives, it could be a reason to get genetic testing. As a genetic counselor, Adar uses test results to guide patients on whether to notify other family members to pursue genetic testing, too.
Conclusion
For Frederick, genetic testing changed everything. It revealed her risk of developing breast cancer, highlighted the need for further testing, and informed her treatment plan. She is now advocating for others to listen to their instincts about their health and to get tested.
Frequently Asked Questions
Q: What is genetic testing?
A: Genetic testing is done with blood, saliva, or cheek swabs and analyzes a person’s DNA for gene mutations that increase the risk of developing diseases.
Q: What is a BRCA gene mutation?
A: A BRCA gene mutation is a change in the BRCA gene that increases the risk of breast and ovarian cancer.
Q: Who should get genetic testing?
A: Anyone over 18, especially someone with a family history of breast cancer, is eligible for genetic testing.
Q: What are the implications of having a BRCA gene mutation?
A: People with a BRCA gene mutation are at higher risk of developing breast cancer, ovarian cancer, and pancreatic cancer.
