More Young Breast Cancer Patients Getting Gene Test
breast cancer at age 40 or younger, most had undergone
BRCA testing within a year of their diagnosis.
And the percentage went up over time: By 2013, 95 percent
had been tested, according to findings published online Feb. 11
in JAMA Oncology.
Experts called the results good news, since BRCA testing has
long been recommended for women diagnosed with breast
cancer before the age of 50.
"This is great, it's heartening," said Dr. Jeffrey Weitzel,
director of clinical cancer genetics at City of Hope, in Duarte,
Calif.
But, he added, women in the study were largely white, well-
educated and had health insurance -- and it's unlikely that
disadvantaged U.S. women would show the same high rate of
BRCA testing.
"We need to keep working on extending the reach of genetic
testing," said Weitzel, who co-wrote an editorial published with
the study.
Media coverage following actress Angelina Jolie's disclosure
that she carried the BRCA1 mutation has improved awareness
about the testing and cancer preventive surgeries, previous
research has suggested.
Jolie had both of her breasts removed in 2013 after learning
she has the BRCA mutation. And, in 2015, she had her
ovaries and fallopian tubes removed due to the significantly
increased risk of ovarian cancer that stems from having the
BRCA1 mutation. But, the authors of the new study note that
the rise in gene testing among patients in this study largely
predated Jolie's disclosure.
Inherited mutations in the BRCA1 and BRCA2 genes account
for 5 to 10 percent of all breast cancers, and about 15
percent of all ovarian cancers, according to the U.S. National
Cancer Institute.
Since the mutations raise the risk of early cancer, women
who develop either disease at a young age have a relatively
higher chance of harboring the flawed genes.
So BRCA testing is recommended for women diagnosed with
breast cancer before age 50. That's, in part, to help guide
their treatment decisions, explained Dr. Ann Partridge, the
senior researcher on the new study, and an oncologist at
Dana-Farber Cancer Institute, in Boston.
Women who carry the mutations have a high risk of
developing a second cancer in the other breast, so some may
want to opt for a double-mastectomy as a preventive
measure. (Experts also advise women with BRCA mutations to
have their ovaries removed by age 40, since there is no
screening test for ovarian cancer, or any way to prevent it.)
BRCA testing also gives families information, Partridge
explained. "On one hand, it could give them some peace of
mind if the test is negative," she said. If it's positive, then
certain family members may want to be tested, too, she
added.
For the current study, Partridge and her colleagues surveyed
897 women who'd been diagnosed with breast cancer at age
40 or younger, at some point between 2006 and 2013. All
were treated at one of 11 hospitals in Massachusetts,
Colorado and Minnesota.
Of women diagnosed in 2006, 77 percent said they'd
received BRCA testing. That went up to 95 percent among
women diagnosed in 2013, the study reported.
Overall, about 12 percent of women who were tested had a
BRCA mutation. And most of those women -- 86 percent --
decided to have a double-mastectomy, the study showed.
But half of the women who tested negative for a BRCA
mutation also had a double-mastectomy, the researchers
found.
That's concerning, both Partridge and Weitzel said. Women
without the gene mutations have a low risk of developing a
second cancer in the other breast, and there's no evidence
that a double-mastectomy improves their long-term survival.
"We don't want to be doing procedures that aren't medically
indicated," Partridge said.
It's not clear why so many women with negative test results
opted for a double-mastectomy -- but it's also not surprising,
Partridge noted, since it's consistent with past studies.
"Some women may do it for peace of mind," Partridge said, "or
because they do believe it will improve their survival, even
though there's no evidence."
At a time of high anxiety, she said, some women may not fully
process the risk/benefit information they're hearing.
According to Weitzel, BRCA testing should ideally include
genetic counseling, to help ensure that women understand
their results.
But in reality, that counseling does not always happen, he
said.
Under the Affordable Care Act, also known as Obamacare,
BRCA testing is a covered preventive service for women at
high risk of having a mutation. And, Weitzel said, Medicaid is
now paying for testing, though the coverage varies by state.
There's still work to be done to improve "underserved"
women's access to BRCA testing and counseling, Weitzel said
-- including women in lower-income countries.
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