Tuesday, February 19, 2013

Genetic Testing at 23andme - but no PAI-1 test?

Hello readers! Those of you who have been diagnosed with PAI-1 deficiency may know that this is a genetic bleeding disorder, which means it is heritable, that we can pass it down to our children. But do you know that very few labs do the genetic test for PAI-1 deficiency? Several labs seem to have the test for the opposite disorder - a genetic tendency to have too much PAI-1 - but few seem to have our particular disorder set up to test. I'm hoping the more visible we make this disorder, the more labs and genetic testing kits will include it.

I recently used 23andme to do a genetic test, and though it's still crude and broad - without a very large database, statistically, yet - it was a fascinating glimpse into all things genetic. You can see traits - from hair color to bitterness tasting - as well as genes you're a carrier for - for me, it was fructose intolerance! You can see disease risks (still sketchy, but better than nothing) as well as genes for breast cancer, Parkinson's, and Alheimers. But very little in the whole test - which studies hundreds of genetic conditions - for those with bleeding disorders. I suggest we write in to ask that they start including it as a standard test in their reasonably-priced kit (right now on special for $99.) There does not appear to be an easy way to contact them, but I did find this form:
https://customercare.23andme.com/anonymous_requests/new?reference=contact_faq
For those with life-threatening bleeding disorders, knowing whether or not you might pass down your condition to your children is an important factor in deciding whether to have children, and we shouldn't have to demand expensive (or even, sadly, often non-existent) genetic counseling to find out.