Jolie tested positive for a defective gene that causes cancer, and then proceeded to get a double mastectomy.
Kimberly King-Spohn, a genetic counselor at WellStar Kennestone Hospital, said a mutation in the BRCA1 and BRCA2 genes that regulate cell growth in hormone-sensitive organs was discovered in 1998 as a link to cancers of the breasts, ovaries, pancreas and prostate.
King-Spohn said the hereditary test, which can cost as much as $4,000, has been “more generously covered” by health insurance companies starting in 2005.
King-Spohn added that general practitioners are doing a better job referring patients to her office.
“I did a lot more genetic testing in the last five years than the eight years before,” said King-Spohn.
Specifically, people who have developed early onset cancer in the breast or colon are being advised to be tested during follow-up appointments years after the original battle.
King-Spohn said the test is often covered if patients are at a high risk for the defective gene, but not approved for low-risk women. As a board-certified genetic counselor, she uses national guidelines to see if a person meets the medical criteria. “We become detectives,” King-Spohn said about finding a patient’s place on a scale of risk based on detailed medical history.
King-Spohn said she is less worried when cancer has appeared late in life for family members, or if the occurrence of cancer in relatives is sporadic.
Her concern rises if she finds similar cancers in multiple families members or if a person had abnormal results in screening for colon or uterine cancer.
King-Spohn said many patients have watched cancer occur in their family for generations and believe they can’t escape it.
The advancement in testing “is very empowering to a lot of them,” she said.
Cancer battle during pregnancy
Tiffany Gaines, a 32-year-old who watched her maternal grandmother and paternal aunts fight cancer, was performing a routine self-exam when she felt a knot on her breast.
Gaines, who lives in Powder Springs, said the lump didn’t hurt and thought it might be related to being seven months pregnant.
Her husband, Rahem, insisted they see a doctor, who performed a biopsy and found two cancerous tumors in Gaines’ right breast in July 2012.
Gaines, who started chemotherapy as an outpatient during her pregnancy, said she didn’t feel fatigued or nauseous, but knew the worst side effect could be the loss of her unborn baby.
Her family didn’t know how Gaines kept her spirits so high when her white blood cell count was slipping lower, Gaines said.
While pregnant, Gaines said her husband would tell the baby, “You help mommy by fighting from the inside, while I help mommy fight from the outside.”
Gaines was induced two weeks before the due date and delivered a healthy daughter, Destini, who is now 7½-months-old.
Gaines continued treatment after the birth and finished in January 2013.
“Once she came out I was ready to go,” she said.
Gaines said she first heard about genetic testing during her treatment, which was also when her older sister was diagnosed with breast cancer with two similar spots on her right breast.
After Gaines tested positive with one abnormal gene, her mother traveled from Mississippi to Georgia to be evaluated.
Her mother was negative, meaning it was Gaines’ father who passed on the mutation. Gaines worries about the DNA link with a younger half-sister in Mississippi, who is not old enough to qualify for insurance coverage of a regular mammogram.
Gaines knows early detection is the key and said that no facilities near her sister administer the gene test.
The options available
After testing the BRCA1 and BRCA2 genes, the next decision for a patient is which preventative measures should be taken.
Jolie’s choice to have a double mastectomy and a future hysterectomy is an option for many Cobb County women with a similar hereditary risk for developing cancer.
“It is almost what is in between your ears than anywhere else in your body,” said King-Spohn, who added the test results and following surgery result in “peace of mind.”
King-Spohn said she is aggressive about recommending those with high risk to have a hysterectomy after child-bearing years, because there is no proven method of testing for ovarian cancer and the survival rate is much lower.
“Patients are actually more likely to have their ovaries removed,” said King-Spohn, who added that surgery is more minor and not visually apparent.
Once is enough
Gaines said after battling breast cancer once, “I refuse to do this again.”
On Feb. 7, which was also her husband’s birthday, Gaines had a double mastectomy.
In one year, Gaines has been through a complete physical metamorphosis that included changes from the birth of her first child, as well as loss of her hair and the removal of her breasts.
Gaines said she kept telling herself that her body was going to look better than ever.
This summer, Gaines will have a final procedure to fix imperfections from her reconstruction, which was performed in April.
Before turning 40, Gaines plans to have a full hysterectomy. “If I wait, it is a possibility I will get hit with ovarian cancer,” she said. “But I want to have more kids.”
Gaines says she should be happy with one child, especially since she cannot try for another pregnancy within two years of chemotherapy.
Any prevention medication will have to be stopped while trying to conceive and during pregnancy, she said.
Not just a female issue
Although men with the abnormal genes are at a lower risk than woman with a positive test, “Men have just as equal probability to carry the gene as women do,” King-Spohn said.
King-Spohn said there is a 50 percent chance with each pregnancy that a parent will pass on the risk.
Over the gentle fussing sounds from her newborn, Gaines spoke about passing cancer on to her daughter.
“You don’t want them to even catch a cold, but hopefully in 18 to 20 years we will have a cure,” Gaines said. Destini’s birthday will always coincide with Breast Cancer Awareness Month in October.
To take away the fear, “I am going to make sure she is educated,” Gaines said.
King-Spohn said it is not ethically responsible to genetically test children for an adult onset disease. She will not recommend preventative surgery for anyone younger than 25 years old.
“The patient needs to appreciate the potential implications,” King-Spohn said about the emotional impact when a person is tested. “There are some people who would rather not know.”
Gaines said the results make options for prevention more clear. “It won’t be the end if you are positive,” said Gaines, speaking as a survivor.