GENETIC TESTING FOR BRCA AND OTHER HEREDITARY
MUTATIONS
If you meet the criteria for genetic testing, we will discuss the potential advantages of testing with you.
Although it can be done on saliva, we generally send a blood sample to a special laboratory that does
the testing. It generally takes about a month to get the result, at which time we will discuss the results
with you. We may recommend that you see a genetic counselor if your situation warrants that
consultation.
In the past there were concerns that a person might be discriminated against if they had a harmful
genetic mutation. In 2008, a federal law was passed, the Genetic Information Non-discrimination Act
(GINA) that prohibits employers or health insurance companies from discriminating against people
because of their genetic makeup. The protection does not extend to life insurance, disability insurance,
or long-term health insurance.
Nobody has a perfect copy of the human genome, and we all have genetic mutations. Most of the
mutations have been determined to be harmless, and those are no longer even reported when they are
detected. The ones that are reported are those that are deleterious (harmful) and those for which not
enough information is available yet to know whether they are harmful or not. They are called variants
of uncertain significance (VUS). Currently, the recommendation is that no further action be taken for
VUS mutations until they are eventually sorted into benign or deleterious. It is possible that other family
members who have had cancer might need to be tested for the VUS in order to gain more information
on its significance.
If you are found to have a harmful mutation, we would need to have a detailed discussion about the
significance of it, what cancers are associated with it, and how much your risk is increased by the
particular mutation you have. It might be that only increased surveillance or risk reduction strategies
are needed. Risk reduction strategies could include taking medication such as tamoxifen to reduce your
risk. Some women choose prophylactic removal of the ovaries which reduces the risk of not only
ovarian cancer but also breast cancer as well. Some women at very high risk choose to have bilateral
mastectomy and reconstruction since that provides the greatest protection against the development of
breast cancer.
Insurance companies generally pay for genetic testing only if you meet the accepted criteria for testing.
The company that does the testing will contact your insurance company after your blood sample arrives
in the lab in order to determine how much your out of pocket expense would be. The tests are
expensive, and some commercial carriers require the patient to pay a deductible or co-pay. If it is
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determined that your out-of-pocket expense will be $375 or less, the company will run the test and bill
you for the difference. If your share exceeds $375 they will contact you to see if you want to proceed
with the testing. If you do not, there is no charge for what they have done up until that point.
the development of breast and ovarian cancer.
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