SMA & genetic testing

http://gma.yahoo.com/blogs/abc-blogs/parents-bucket-list-dying-baby-girl-goes-viral-180155213--abc-news-topstories.html

I just read this article about a baby, Avery, who has spinal muscular atrophy (SMA) and will likely die before her 2nd birthday.  In order to celebrate the time they had left, her parents created a bucket list for Avery and are blogging about the things she accomplishes off of her bucket list.

SMA is one of the genetic diseases that our fertility doctor recommended we test for.  I spent some more time today looking into one of the tests that the doctor gave us a brochure for.  The company is called Counsyl (counsyl.com) and they offer what they call a "Universal Genetic Test" that tests for 100 genetic diseases.  One of my first red flags was that they did not give the cost for the test on their website.  I don't like that.  If you want me to consider buying your product, I need to know what I'm going to be investing before I get involved.  They did say that many insurance companies cover it and that  "a discounted cash price is available for the Counsyl test".  That is my second red flag.  If you can offer a discounted rate, why don't you just offer that to begin with?  Why do you have to charge more?  Anyways, it looks like the test is about $350 for one person and $700 for two.  After reading more online it looks like this test was originally offered straight to the consumer, but is now available only through doctor's offices.  The most current information I could find, not from the company website was 2 years old.


I think the most telling fact was this:  Counsyl executives say 35 to 40 percent of people tested are carriers for at least one disease in the test. In about 0.6 percent to 0.8 percent of cases, they say, both members of the couple are carriers for the same disease.  So we have a less than 1% chance of carrying the same disease and even then it is a 25% chance of having a child with that disease if we are both carriers.  What is 25% of .8%?  However, I think it all boils down to fear and guilt.  How scared are we of that tiny little percent affecting us and how guilty will we feel if we do have a child with a genetic disease and hadn't done any testing beforehand?


What is also a little scary is that as the doctor mentioned, most pregnant couples don't get access to this information because they don't have the pre-pregnancy doctor's appointments.  They just get pregnant.  So these tests are being offered to the people who are already desperate for a child and probably most vulnerable to the fear factor I mentioned.  Who wants to work this hard for a child and then risk losing it, no matter how small the risk.  I don't mind fear tactics in advertising, I can tend to shrug them off (home security commercials come to mind).  However this test seems to be specifically targeted to the people most vulnerable to those tactics.  Doesn't make me want to jump at their test very much...


The other option she gave us was a test for the two most common genetic diseases, CF and SMA.  Not sure about the cost as that's not being offered by an outside company.

I had written earlier that I was unsure about getting the testing done for various reasons, some of which I mentioned above.  However I am fairly sure I will be getting the testing done, most likely the more limited one.  I think the thing that really convinced me (brace yourselves, the mother of all bad reasons is coming) was the picture of the parents in that article.  It wasn't the picture of the child or even the description of what she is going through.  But seeing them and knowing that this disease could affect people like that...those people seem to be the perfect model of everything society wants.  They are beautiful, look well-off, happy, college sweethearts, etc.  If these paragons of society can be affected, then anyone can and I don't want to take that risk.  (I know that is a very stupid reason to make a decision.  Don't say I didn't warn you)