Kaylene Ready is a board certified genetic counselor and employee of Counsyl. This is her first pregnancy, and her experience as a patient has provided her with a fresh perspective on her profession.
When you start thinking about having a family and especially when you become pregnant, you begin to dream about your future child – will she look like me? Will she inherit my intensity or be more laid back like her father?  Be a teacher or an engineer?  So many thoughts and hopes crowd your mind, but rarely, if ever, do we ask ourselves if she will inherit a genetic disease.  This is probably because worrying about disease is not very much fun… besides, these days I need to worry about how I am going to keep my breakfast down and how I am going to stay awake through yet another meeting at work.
But then you visit your doctor and if your doctor is anything like mine, you get a big folder with six thousand pages of information (ok, maybe not six thousand, but it’s a lot) about tests you’ve never heard of that are supposed to help tell if the baby is healthy.  One of those tests is for carrier screening.  And in your spare time you’re supposed to figure out which of these tests, if any, you want to pursue.  So instead of going through everything you tell yourself that you don’t have any family history, so there’s nothing to worry about, right?
The truth is, most of you are right, but what if you’re wrong?  As a genetic counselor I’ve seen many families affected by genetic disease.  Most of them are just like you and me – they don’t have any family history, no reason to suspect this would happen to them.  Nonetheless, these unsuspecting families have been devastated by the loss of a child or must grapple with finding resources for children with intellectual or physical disability.  My job is to encourage patients to think about what they would do with the results of a genetic test before they take it.  Fortunately, for carrier screening, there are lots of options.  But my dirty secret is that when I had carrier screening, I wasn’t sure exactly what I would do if I found out I had a high risk.  And this is what I do for a living.  If it’s confusing for me, I can’t imagine how other women must feel.  What I was definitely sure of is that I wanted those options.  I wanted the opportunity to make a plan and I didn’t want to be surprised.
In the end, I found out that I am a carrier of Niemann-Pick Disease Type C, but since my husband tested negative, our risk to have a child with the condition is much less than 1%.  I like those odds.  Knowing – really knowing and not just assuming – that my risk is low, not only for Niemann Pick Type C, but for over a hundred other genetic diseases is comforting.  So now I can get back to worrying about how I’m going to keep my breakfast down…and more importantly, what I will name my little girl when she enters this amazing world.

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