SPACE COAST MEDICAL REPORT
Genetic testing, easily accomplished through a blood draw or saliva specimen,
is an accurate check for hereditary cancer syndrome for individuals with a personal
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or family history pointing to inherited cancer risk.
A positive result is, however, a call to action with more robust
monitoring. It may mean adding an MRI as part of routine
testing or going for head-to-toe skin exams at least once a year,
instead of waiting until some suspicious-looking mole appears
before heading to the dermatologist’s office.
“We can’t change our genes, but we can change what we do to
watch them,” Dulany said.
Although testing can check for 84 different genes responsible
for a host of cancers, a common cancer panel that checks for 47
different possible gene mutations includes the major cancers.
“The downside of testing 84 genes is that it covers a lot of
obscure cancers,” Dulany said.
Of all the genes tested, none have received more attention
than BRCA1 and 2, in large part because of Angelina Jolie. The
actress’ willingness to share her story raised awareness of the
importance of genetic testing and the tough choices that sometimes
accompany a positive result.
Jolie’s mother had succumbed to breast cancer and the actress
herself possessed the BRCA1 gene mutation, a gene that increases
the chance of developing breast cancer, including the aggressive
and challenging triple-negative breast cancer, to as much as
85 percent in a lifetime, along with up to 46 percent increase in
the risk for ovarian cancer. That is considerably higher than the
10 percent to 12 percent risk found in the general population.
“She brought the BRCA mutation to the forefront,” Dulany said.
Not only are both BRCA1 and 2 implicated with breast cancer,
but mutations of these genes also increase the risk for pancreatic
cancer, a particularly difficult cancer to treat because it
does not typically manifest itself until a very advanced stage.
A BRCA1 mutation also signifies an additional risk for cervical,
uterine and colon cancer and BRCA2 mutations can increase the
likelihood of stomach and gallbladder cancers, plus melanoma.
BRCA mutations can also be markers in assessing the risk for
ovarian and pancreatic cancers, as well as melanoma.
After testing positive, Jolie opted for preventative bilateral mastectomies
and reconstructive surgery. So, too, did Merritt Island
resident Cherisa Lawerence.
“I went ahead and had a double mastectomy so that there wouldn’t
be any issues with other breast cancer coming up,” she said.
Since Jolie’s surgery, genetic testing has become even more
sophisticated in identifying additional gene mutations that can
increase the risk for breast cancer. In Lawerence’s case, she was
tested for CHEK2 mutation because of her family history.
The guidelines for treatment remain the same as they were almost
a decade ago with Jolie.
“If you are past childbearing age, mastectomy and hysterectomy
are recommended for these individuals, because it decreases
cancer risk by 90 percent,” Dulany said.
BENEFITS OF TESTING
Patients already suffering from cancer can also benefit
from testing. “Not only can these tests answer whether or
not there is a mutation, but they can also help determine
what particular medications would be better, based on the
markings,” Dulany said.
During the counseling session, Dulany delves into the
patient’s family history to determine if there is a family
history of a particular cancer, discusses the importance of
genetics, offers options for addressing results and provides
education on the Genetic Information Nondiscrimination Act
GINA approved in 2008, which protects individuals against
discrimination in health coverage and employment because
of their genetic history.
Although genetic testing costs $6,000, most insurance
carriers now cover most of the cost if testing is recommended.
“In most cases, the patient never has to pay more than $250,
which is not much for peace of mind,” Dulany said.
Withrow is now encouraging family members to get tested.
“There is a lot of misunderstanding out there,” she said.
“People still believe it’s very expensive and insurance won’t
cover it, and that insurance companies are going to discriminate
against you based on their results,” Withrow said.
“There are still people who believe ‘Well, if it’s positive,
there’s nothing I can do about it.’ That’s not true. Knowledge