Genetic Counseling & Testing

 

Given the amount of cancer in my immediate family and on my mother’s side, my oncologist referred me to genetic counseling.  Of greatest concern are the BRCA1 and BRCA2 genes.  These genes normally help protect against breast cancer but a mutation may, in fact, increase the cancer risk.  The mutation may be inherited from either parent; or it may be spontaneously generated in an individual.  A daughter or son who inherits this mutation is at risk and may, in turn, pass it on to the following generation.

So I filled out a family history for the genetic counseling group and had a long teleconference to discuss family medical history.  The goal was to determine whether there would be a benefit to having genetic testing.  This is a topic that my daughter, Karen, and I have discussed at some length.  We are both concerned about the likelihood of breast cancer in her future.

I’ve decided not to proceed with testing from this genetic counseling/testing group.  Here’s why.

• Although there were many cancers among my mother’s siblings, only my mother and one of her sisters were diagnosed with breast cancer.  My maternal grandmother was not diagnosed with breast cancer.
• Running computerized analysis models, it seems that the probability that I carry one of these mutations is less than 5%.
• Further conversation about family health issues brought out another possibility:  Cowden Syndrome which is a problem with the PTEN gene
• The test in question looks ONLY at the BRCA1 and BRCA2 genes – I’d get no information about PTEN.
• This test costs about $4,000.00.  My insurance would pay all but $375.00 of that.  But I’d get only a small part of the answers I’m seeking.

But even if I did come up positive for the mutations, there’s no way of knowing whether my kids inherited it unless they also get tested.  There’s no way that their insurance would cover even part of the cost for either one of them.  They still wouldn’t know if they have the mutation.

So what to do?

23andMe may give the best information for a truly reasonable price - $99.00.  I sent for the test kit.  I don’t know whether they test PTEN, but they do test for other diseases which may be connected to Cowden Syndrome.  And they test BRCA.  If I have the mutation, this is something my daughter can follow up on without going broke.

And as a bonus, I’ll get some good info about my genetic ancestry.  Were my ancestors always Poles?  Just how much Neanderthal do I have in me?

Where did I really come from??? 

 

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