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I was sitting at the table with a dear friend
one day, talking about Angelina Jolie. This friend of mine, Maggie Miller, is a certified genetic counselor at Providence Alaska Medical Center. She is
beautiful, kind, incredibly accomplished, intelligent and insightful. She
also spends the bulk of her days counseling women just like Jolie—as well as
hundreds of others who may not fall into the same category, but who could still
benefit from genetic testing.
I've always thought that because I have no
family history of breast cancer, I have nothing to worry about. But it turns
out, I could not have been more wrong; 80 percent of women diagnosed with breast cancer
have no family history. This left me wondering how many other women could
benefit from talking to someone like Maggie.
Because when you take into account the fact
that 1 in 8 women in the United States will develop invasive breast cancer over
the course of their lifetime, and that there are all kinds of different breast
cancers to contend against, you start to realize that knowledge is power.
So I sat down and talked to Maggie officially
after that, asking her questions I think all women should probably know the
Who should consider genetic testing?
When a person starts off with a brick, though, it takes far fewer life pebbles for cancer to form in them.
There are basically two different types
of risk categories for breast cancer: Women who have a strong genetic history
(say, an aunt and mother who have both been diagnosed, or those who are of
Eastern European Jewish descent) and women who may not have that genetic
history, but who have experienced a build up of smaller risk categories over
their lifetimes (things like getting their period before the age of 12 or being
childless after age 30.)
If we were to think of those categories
in tangible terms, a strong genetic history is like a brick, while those
smaller risk categories are more like pebbles. Most cancer is sporadic, the
product of many pebble-like risk factors adding up over the years. The average
age of sporadic breast cancer is 63. When a person starts off with a brick,
though, it takes far fewer life pebbles for cancer to form in them. Often these
individuals are diagnosed young and get cancer multiple times.
There is a third type of factor, called
familial or multi-factorial. This is when there are small genetic risk factors
that are additive, as well as environmental risk factors that are shared
amongst the family.
Anyone with a family history should
consider visiting a genetic counselor for assessment and testing. There are
risk assessment models for those with enough smaller risk factors to be
concerned, and now there are even tests that evaluate the genetic pebbles that
influence breast cancer risk. The pathway
behind nearly every type of breast cancer is different, and almost every cancer
has a unique fingerprint.
There are panel tests now that can look at anywhere from six to 60 genes at the same time.
Everyone has been talking about testing
for the BRCA1 and BRCA2 gene mutations since Angelina Jolie came out with her
story, but those tests are not the only options available. For women with a
strong family history, BRCA1 and BRCA2 testing may be the way to go—these are
the tests that look for inherited gene mutations. But only 10 percent of breast
cancers are the result of inherited gene mutations.
Let's think about BRCA1 and BRCA2 tests
as being the fire trucks you might send out when you know the general area where
a fire (cancer causing gene mutation) might be. That fire truck can check a few
highly probable neighborhoods and likely find the flames.
But when you don't know the address of
the fire in your family history, you don't necessarily know which neighborhood
might be housing a fire, so sending a fire truck out would be a useless
endeavor because a potential fire could be anywhere. That's when you need a
Next Generation Sequencing or Panel
testing can act as that helicopter.
There are panel tests now that can look
at anywhere from six to 60 genes at the same time—a big difference from the
gene-specific tests that only look at two or three at once. Tests like this (BROCA,
BreastNext, BreastOvarian Cancer Panel, etc … ) can be great options for women
who don't know whether or not there is a mutation in their family.
The downfall of these panel tests is
that some of these genes are newly identified and they may sometimes identify an
unclear result; think steam rather than a fire. That means they can turn up
results that might indicate an increased cancer risk, but that aren't
definitive, which can make it harder to come up with a plan moving forward.
is another new option for those who do have some of the smaller factors that
can lead to breast cancer: BREVAGen and BREVAGen plus. These tests evaluate the
genetic pebbles in your history, taking into account both risk-increasing and decreasing pebbles, additive pebbles and genetic risk factors.
is testing an option?
and BREVAGen plus results are not validated (studied to be effective) until you
are 35 or older. BRCA-related cancer screenings (like Screening Breast MRI) aren't
recommended until a woman is at least 25. While there are some rare cases where
a woman may be tested earlier, the main goal is to wait until a woman is old
enough to truly conceptualize her results and make adult decisions about how to
deal with those results.
What are the options available if a mutation ("fire") is detected?
For some women, this intensive screening can provide peace of mind. But for others, they can wind up feeling like they are on a hamster wheel of stress and worry.
When it comes to breast cancer, the
best prevention for someone who does have one of these identified gene
mutations is a bilateral mastectomy—removing both breasts. But this is not
your only option, and in fact, only about 50 percent of women in the United
States will pursue that path when given positive results.
A mastectomy can reduce your risk of
developing breast cancer by about 90 percent, but because some breast tissue remains in the armpits, there is still some risk of developing breast cancer in the future. Because of this, and just the extreme nature of a preventive mastectomy, some women will decide it is not the right path for them – even with a greatly increased risk.
For them, identifying these gene
mutations can prompt increased screening for early detection instead. That
might mean seeing a high-risk breast cancer provider to start off, then going
in for an MRI scan three months later, and alternating between clinical exams
and imaging every three months after that—maintaining that schedule
For some women, this intensive
screening can provide peace of mind. But for others, they can wind up feeling
like they are on a hamster wheel of stress and worry, eventually opting for
the bilateral mastectomy simply to be done with all the screenings.
MRI technology has proven to be
beneficial for early detection in high risk (BRCA positive) women, though, 70 percent of the time catching breast cancers as early as Stage 0 or Stage 1, while
mammograms detected these same cancers between Stages 2 and 3.
There are also some medications that
can be taken to reduce the breast cancer risk for those who have specific gene
it comes to testing, what does insurance cover?
Insurance will usually cover testing
for people who meet specific criteria, but every insurance sets their own
criteria and doesn't necessarily base that off of national standards. So
insurance coverage can vary, and you should call your plan to find out whether
or not testing would be covered for you.
said, there is now a lab that offers panel testing (that helicopter) to
patients nationwide for only $475 out of pocket if insurance does not cover the
testing. This can be a great relief for women who have concerns but don't fully
meet insurance criteria.
The BREVAGEN Plus assessment is more
universal because it is offered to women with only a couple of risk factors.
The test can then clarify the woman's risk by noting which small genetic
influences she has and providing a short term (5-year) and lifetime breast
cancer risk score. BREVAGEN Plus testing is $250 out of pocket.
It is important to remember that these are still fairly new tests, and results may sometimes be inconclusive.
Unfortunately, greater test
availability can also mean more women getting tested who don't necessarily
warrant pursuing those tests—and if the result is steam instead of a fire,
that can lead to more questions and anxiety, without anything definitive to
apply to future testing.
Point being, you should absolutely talk
to a genetic counselor about any concerns you may have, but not everyone will
benefit from sending those helicopters out. Yes, it can provide peace of mind
if those results are all negative, or a direction to go if there are some positively
identified gene mutations, but it is important to remember that these are still
fairly new tests, and results may sometimes be inconclusive.
there was any one message you could get across to women about their risks, what
would that message be?
Genetics are actually the smallest cause behind cancer—our lifestyle is the problem.
As much as I love cancer genetics, and
feel proactive and empowered when it comes to helping women to understand more
about their cancer risks, I am equally passionate about maintaining an active
life. I would tell all women (and men) that we need to move more. The research
is in on this, and moving for 40 to 60 minutes a day five days a week, at a pace
where you can still talk (but not sing) can reduce your cancer risk by 30 to 40
percent. Physical therapists in our center today are also using this methodology
to help patients prevent recurrence. Genetics are actually the smallest cause
behind cancer—our lifestyle is the problem. The number one thing we need to do
to decrease our risks is change our lifestyle. And even if a healthy lifestyle
doesn't keep you from getting cancer, it will give you a better chance of
success in fighting that cancer.