Though I am travelling and it isn’t easy to tend to my blog, this story caught my eye recently and I thought I’d try to say something about it. Sharine and Brian Kretchmar conceived a son, Jaxon, using third-party sperm. Sadly, Jaxon has cystic fibrosis.
Apparently for a child to have cystic fibrosis, both of the genetic progenitors must carry the gene for the trait. Thus, it must be the case that Sharine Kretchmar carries this gene and it must be the case that the man who provided the sperm also carried this gene.
There are screening tests that could reveal that a particular person carries this trait. Sharine was not tested in advance of this pregnancy and did not know that she was a carrier. Additionally, the sperm provider was not tested.
Now the problem that is the major focus of the story is that the sperm bank that provided the sample claimed that the sperm had been tested and this claim obviously wasn’t true. I’ll assume that if it had been tested and come back positive for the problem gene that either the provider would have been rejected by the sperm bank or at the very least, the provider wouldn’t have been chosen by the Kretchmars. It seems clear to me that the false claim that the sample had been tested is problematic in the extreme.
And this is, as I said, the story for the media and some others who have commented on it. But I actually want to go in a different direction.
It seems easy to say (now) that all gamete providers should be tested for CF. In fact, they should be tested for scores if not hundreds of genetically related conditions. But what about people using their very own gametes? Should everyone–whether in the ART game or not–be tested for these things? Should any person about to conceive consider testing for a certain range of genetically heritable conditions?
After all, it’s possible that Brian Kretchmar could have unwittingly carried the same gene and thus, had they conceived in a more ordinary fashion, the child might have had CF. Or perhaps I should just make this a broader hypothetical. Any different sex couple planning to have children using their own gametes might be carrying these traits.
Remember that Sharine Kretchmar also carried the problematic gene and that she was unaware of that. Even with the sort of regular access to family medical history (which is to say, a working knowledge of relatives and what not) she was not aware that this trait ran in her family. It’s not hard to see that this could happen and, in the ordinary course of things, could actually have happened to both members of a couple.
So if you were a doctor who knew a patient was considering pregnancy, would you recommend genetic screening? Would you only recommend it if there was clear history justifying it? What about it (as I think is often the case) a person doesn’t have totally complete family medical history? (I don’t know what many of my aunts and uncles died of, exactly, and there is no one I can ask.)
As genetic testing becomes easier and cheaper and as there are more and more things you can screen for, I do wonder about whether the standard of practice for doctors will shift. For instance, if you knew one party carried the CF trait, wouldn’t you be inclined to test the other person? Would it be irresponsible not to offer the test to the other person? To recommend it? Forcefully?
This is all about that brave new world we may head towards. All manner of screening is possible now. It may crop up most acutely with ART just at the moment, but I really do wonder if it won’t spread to all forms of conception.