Tuesday, April 17, 2012

You could save a patient's life: BRCA1 & BRCA2 testing

 I do not in any way claim to be an expert on genetic testing for cancer. I would just like to share some basic information on an important test that can be done for breast and ovarian cancer. It is crucial to approach a genetic instrument like this with sensitivity and judiciousness.



Although currently there is no standard criteria to determine if BRCA1& BRCA2 testing should be done, genetic factors should be used to determine whether testing is appropriate. The crucial determinant is a presence of family history, as well as other genetic factors.

Risks include (but are not limited to):

Two first degree relatives diagnosed with breast cancer, one of which was under 50 YO; one first degree relative with bilateral breast cancer.

In the case of a person of Ashkenazi Jewish decent, one first degree relative with breast or ovarian cancer, or two second degree relatives on the same side with breast or ovarian cancer.

It should be noted that these and other factors, as well as a positive result for the presence of a BRCA1 or BRCA2 does not necessarily mean that breast or ovarian cancer is an inevitability. The test speaks only to the risk for developing cancer. Knowledge about the presence of the mutation is important not only to the patient themselves, but also future generations of their family.

When recommending BRCA1/2 testing, be sure to advise patients to check their insurance coverage as it can vary widely. A combination of tests may be done, starting with a blood draw. Since the blood is sent away to a lab to be analyzed, it is also good to let the patient know there may be a wait of a few weeks or more for the results.

For more details

If there is anyone who has anything to add, please feel free to comment!

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