The Importance of Genetic Testing
- A young woman from Toronto, Ontario, doesn’t have breast cancer, but the disease runs in her family; that’s why she decided to get a double mastectomy at age 25.
- She knew her chances of developing breast cancer were higher than normal due to her family history, so when she was 23 years old, she decided to undergo genetic testing, which revealed that she carries the BRCA gene mutation.
- Genetic testing is done to determine if a person has a specific mutation that puts them at a higher risk of developing cancer. The results, like in Sydney’s case, can allow patients to make decisions about their health to ultimately prevent them from developing cancer.
“It was an easy decision for me as I didn’t want to live in fear of developing cancer and I had an amazing support system of people who had been through similar experiences,” Sydney Weinstock told the Daily Mail.Read More
She knew her chances of developing breast cancer were higher than normal due to her family history, so when she was 23 years old, she decided to undergo genetic testing, which revealed that she carries the BRCA gene mutation.
The BRCA1 (BReast CAncer 1) and BRCA2 (BReast CAncer 2) genes help cells repair their DNA damage. Having a change, or mutation, in one of these genes increases a woman’s risk of developing breast and gynecological cancers. It remains unclear if Sydney tested positive for BRCA1 or BRCA2.
These gene mutations are commonly passed down in families; if a parent carries a BRCA gene mutation, there is a 50-50 chance you could be carrying it as well. So, SurvivorNet experts recommend genetic testing immediately upon finding out if someone in your family has one of these gene mutations, just as Sydney did.
“The genetic BRCA1 and (BRCA)2 mutations, if a woman has one of these mutations … it puts her at basically the highest quantifiable risk for getting breast cancer,” Dr. Elisa Port, a surgical oncologist at Mount Sinai, previously told SurvivorNet.
“We typically say between the 60 (percent) and 80 percent range. Having a BRCA1 and (BRCA)2 mutation also means that that person is at higher risk of getting breast cancer at an earlier age, and also maybe at risk for other cancers like ovarian cancer, like pancreatic cancer for men, prostate cancer and male breast cancer may be a concern.”
In December 2020, when Sydney found out she tested positive for the BRCA gene mutation, she opted to have a preventative double mastectomy to dramatically reduce her risk of developing breast cancer. However, her risk of gynecological cancers still remains, which means she may also have to undergo a preventative hysterectomy (surgery to remove the womb) in the future.
“I know it sounds drastic but I had made this decision a long time ago and knew what I wanted,” she said. “People called me brave for having the surgery but I didn’t feel like that. In my mind, if this is going to prevent something that’s deadly, why wouldn’t I do it?”
“I had reconstructive surgery and I was able to keep my own nipples so they look like my breasts,” she added. “They’re still swollen and haven’t fully recovered but I love them.”
What is a Nipple-Sparing Mastectomy for Breast Cancer?
In January, Sydney had a bilateral nipple-sparing double mastectomy direct to reconstruction because of her increased risk of breast cancer.
If you’re faced with the choice of whether to reconstruct your breast after cancer, figuring out how to preserve your natural appearance is a huge issue.
In a procedure called “nipple-sparing mastectomy,” doctors use special techniques to shell out a woman’s breast, leaving the skin, and the nipple, intact. The idea is to maintain, as close as possible anyway, the natural look of the breast. After the mastectomy, a plastic surgeon will use either an implant or the woman’s own tissue to recreate the breast. When a woman’s own tissue is used, doctors typically take it from fat in the patient’s lower abdomen.
“It is certainly the ideal procedure for those women who chose to have prophylactic mastectomy who don’t yet have breast cancer,” Dr. Irene Wapnir, a breast surgeon at Stanford Medicine, previously told SurvivorNet. The downside to this type of procedure, Dr. Wapnir said, is a loss of sensation in the nipple area.
The Importance of Genetic Testing for Breast Cancer
Genetic testing is done to determine if a person has a specific mutation that puts them at a higher risk of developing cancer. The results, like in Sydney’s case, can allow patients to make decisions about their health to ultimately prevent them from developing cancer.
Genetic testing can be done on samples of blood or saliva, or from a swab of the inside of a cheek, according to the American Cancer Society. The samples are sent to a lab for testing.
This type of testing for any cancer — in Sydney’s case, breast cancer — is usually done in a doctor’s office (either your primary care doctor or an OB-GYN), but there are a few tests available for people to purchase commercially.
Limitations of Genetic Testing
Like anything in life, there are limitations to genetic testing for breast cancer, specifically the commercially available tests women can take. One of the most common types of commercially available tests is from 23andMe, a genomics and biotechnology company, as well as tellmeGen and MyHeritage genetic tests.
“There’s only a cadre of them that are approved and accurate and there can be both false positives and false negatives, so it really depends,” Dr. Port said. “If someone is suspicious of having one of these genes (mutations) and gets tested through one of what we call the direct to consumer type tests, it is important that those testing results may need to be verified before doing something irreversible based on those results.”
In other words, if you take one of these tests without your doctor’s knowledge, and you receive some concerning results, make sure you discuss those results with your doctor before taking your next steps.
The other limitation to genetic testing is genetic counseling. Dr. Port said this is the most critical part of genetic testing. What does genetic counseling mean? Well, if you get a positive result back, how are you going to cope with that news?
“If someone gets a genetic test result back, it’s really important for them to know what is this? (What does this) mean for them? Put it into context.”
“What does it mean for their family members? For their relatives? Genetic counseling to follow up genetic testing is a really, really important part of the whole process and is not always available in the direct to consumer type avenue.”
Based on your personal and family health history, your doctor can refer you for genetic counseling, according to the U.S. Centers for Disease Control and Prevention.