Genetic Testing For Hereditary Cancer | Middlesex Hospital
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Genetic Testing For Hereditary Cancer | Middlesex Hospital


– Generally a woman would seek genetic testing for breast cancer if there was a reason to believe that she was at increased risk for hereditary breast cancer. And the way that you would determine that is generally by meeting with and being assessed by a genetic counselor. So a woman who was concerned about whether her breast cancer
is hereditary or not, could come in and meet
with a genetic counselor who would take a family history including the person’s medical history, and their entire family’s medical history particularly paying close
attention to cancers and what type of cancers people had. And they would use that information to come up with an assessment of the likelihood that the
cancer in the family is due to a genetic factor. – If a woman has a genetic abnormality that puts them at high
risk for breast cancer, they are at a much higher
risk for additional and future breast cancers. For a lot of women, this means that they may choose a full mastectomy instead of a partial mastectomy. When I see a woman who has a new diagnosis of breast cancer, as part of the evaluation I always ask about their family history. If they have a family
history that includes multiple other relatives
with breast cancer or ovarian cancer, they are considered at high risk for a genetic mutation for those diseases. These are the BRCA mutations. If the risk level is high enough, that woman needs to go
for genetic testing. And the results of that
testing can influence their decision regarding their surgery. – If a woman has a gene that puts them at
risk for hereditary cancer, their risk of developing
cancer in their lifetime is hugely increased. There are actually many types of hereditary forms of cancer. The most common, and the
one most people hear about, are hereditary breast cancers. And those are typically due to one of two genes, either the BRCA 1 gene, or the BRCA 2 gene. And if a woman were to
carry one of those genes in a atypical form, which is what the test is looking for, then you would find that, yes, the woman’s risk of breast cancer would be much increased
over the general population. In addition, she would also be at risk for additional cancers. And primarily you would
think of ovarian cancer that often times goes along with having alteration in one of these genes. – So the question is, if a woman is diagnosed with a BRCA
1 or BRCA 2 mutation is she at risk for both
breast and ovarian cancer? And it really depends on the mutation. So a woman who has a BRCA 1 mutation is at somewhere between a 50 to 60 to 85 percent lifetime
risk of breast cancer. And she has somewhere between a 40 and 60 percent lifetime
risk of ovary cancer. A woman who has a BRCA 2 mutation, B-R-C-A 2 mutation, still has about a 60 to 85 percent lifetime
risk of breast cancer, and about a 17 to 27 percent
lifetime risk of ovary cancer. So they’re a little bit different. – When we have a new
diagnosis of BRCA mutation, we sit and talk for quite a while about the option of
mastectomy of both breasts versus the other option
which is close surveillance. For these women this would include not only a regular clinical breast exam, mammography and perhaps ultrasound, but also will include breast
MRI on a regular basis if they do not choose to have mastectomy. – So when we talk about counseling women we talk to them about prevention, if they don’t already have cancer. And prevention can take
one of several routes. One it could be more screening. So in other words, women
that carry a BRCA mutation particularly if they have a
family history of breast cancer, we screen them twice a year. We use mammography alternating with MRI. We can offer them prophylactic mastectomy, which reduces the risk significantly. We also may offer them prophylactatic salpingo-oophorectomy, removal of the ovaries and the tubes. The problem with ovary cancer is we’re not very good
at screening for it. So we tend to be a little more aggressive in terms of surgical reduction. So we really look at screening versus removing the organ that’s at risk. – The Supreme Court came down on the side of our own civil liberties. And indicated that the ability for the Patent
Office to give patents to genes is no longer
going to be the status quo. And in doing so, that is
going to help all of us. – I think what we’re gonna see, is we’re gonna see more research. We’re going to see more testing developed. We’re gonna see lower cost. Right now the test is over $4,000. Very expensive. Three to four thousand dollars actually. And so I think that more women will have access to the testing. And the testing may get better. That’s what I really
really hope will happen. – This was really groundbreaking in that, it’s not only this gene now, that is open, but it’s going to also open those other 4000 genes that have
thus far been patented. It’s now going to give us an ability to argue before a court to allow those genes to be further researched. To be made available for evaluation and studies by multiple companies. And in doing so, reduce
the cost of testing and promote research. – The ability of additional laboratories to provide genetic testing for hereditary breast cancer is very important for multiple reasons. And one of the major
reasons is for research. Because the more
laboratories that are allowed to look at the BRCA genes,
to test the BRCA genes, the more we’re gonna learn about them. And particularly when we’re talking about test results that come back ambiguous, the variations of uncertain significance, the more information we
have from many laboratories, the more likely we’re going to get people true answers in those situations. – Hopefully with the
Supreme Court decision, there will be other companies offering these tests to the patients. Therefore, with improved
access to testing, we should be able to get those results much more quickly, and
be able to walk women through the process of decision making for surgery at a much more rapid speed. This will improve overall treatment as well as patient
satisfaction, and markedly decrease their anxiety level
during this time period.

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