Genetic Testing

I recently went to my Gynecologist for my yearly appointment.  The minute I mentioned that my mother has Ovarian Cancer, my Doctor got very concerned.  She sent me to a lab to take the CA125 test which was negative and to have a pelvic and transvaginal ultrasound.  The only thing the ultrasound showed was that I have a small fibroid, which she wasn't concerned about.  Now my Doctor wants me to see a Genetic Counselor.  My mother did not have the BRCA test and right now she is in no condition to even take the test.  I don't understand why I can't just take the BRCA test rather than talking to a Genetic Counselor.  The closest one to me is in Miami which is an hour and a half away from where I live.  Even if I take the BRCA test and it is positive, what can I do at that point?  There is no magic pill that I can take to prevent getting Ovarian Cancer.  I am being proactive by having my pelvic and transvaginal ultrasounds once a year, although now my Doctor wants me to now have the ultrasounds every six months.  Is it worth going to a Genetic Counselor?

Thanks!

[Annekathryn Goodman, M.D.]

Hi There
The only effective intervention to prevent ovarian cancer is the surgical removal of the ovaries and fallopian tubes.
There is old retrospective data to suggest that the risk of ovarian cancer is reduced if you are on the birth control pill. But this risk reduction is at most 50% and may not reduce risk in someone who has a genetic risk.

Checking ultrasounds will not protect you. Ovarian cancer spreads by shedding and spreading seeds of small malignant cells around the abdominal cavity before the ovary is even enlarged.

If you have completed your family and if based on the results of a good genetic evaluation, you are considered high risk for ovarian cancer, surgical intervention is indicated.

So your doctor is absolutely correct in recommending a visit with a genetic counselor and BRCA 1/2 testing.

Only about 10% of women with ovarian cancer have a gene mutation that we can pick up. The other 90% of women with ovarian cancer may have other risk factors such as family history, infertility, obesity, other cancers such as breast or colon,  or endometriosis.


A visit with a genetic counselor is important for two reasons:
They will help explore your full family tree. They may pick up on other illness that are linked with ovarian cancer that you did not think of. In preparation for a visit, you should try to gather as much medical information about your family as you can

The second reason for visiting a counselor is because they are a counselor. News about gene mutations can be upsetting. It  is not wise to discover that you might at
risk for a life threatening illness without the trained genetic counselor who can help interpret the results for you.
best wishes