Saturday, November 7, 2015

Half Baked Genetic Testing






Direct to consumer genetic testing is becoming more popular.  I am not completely sure how I feel about that.  I think getting tested if you are at risk is certainly a positive.  However there are some major drawbacks to getting tested without a genetics counselor.


Oh sure, I may have been able to spit into a tube or scrape the inside of my cheek...send it to a lab somewhere and get my BRCA1+ result.  
That is the EASY part.




BUT

Would I have known what to do with that result?

Sadly, I think not.

That lapse could have resulted in a stage 3 or 4 cancer diagnosis instead of a stage 1

and that my friends *is* HUUUUGE 
(said in my best Donald Trump mocking voice)




I think it's a bit like having some of the ingredients for a complicated recipe...but not actually having the recipe.

So are you missing a key ingredient?  How exactly are those ingredients combined and what is your desired result?




Not only can a genetics counselor take a detailed family history to pinpoint the specific genes to test for, they can also tell you the risks of your mutation, if your tests come back positive.

They also can help you set up appointments and further preventative testing so that you are accurately screened and cared for in a manner specific to the mutation you carry.

For me...that was life saving.

Within a month of my brca1+ diagnosis I had met with my breast surgeon and gyn oncologist, had a mammogram, a pelvic ultrasound and blood work drawn.

I began the process of scheduling my first prophylactic surgery.

All of this occurred while I was working full time, and in the process of selling a home, buying a home AND moving my family cross country.

Being completely honest, if I had done a mail order test I am very sure I would not have done much else, given all the other events going on in my life at that time.

So yes, I support genetic testing

BUT GENETIC COUNSELING SAVED MY LIFE

Because when you cook a complicated recipe I need all of the ingredients AND the information to make it.

In this case, that recipe was my life.






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