A few months ago I blogged about a sad story of a family struggling with their young son’s cystic fibrosis. The boy, Jaxon Kretchmar, was conceived with third-party sperm. The story has now surfaced in the New York Times. Though most of the details were in the earlier post, it’s still a chance to revisit a critical topic.
The facts are fairly simple. Sharine and Brian Kretchmar used third-party sperm in conceiving their second child. They researched carefully and chose a provider from New England Cryogenic Center. The Center represented that the sperm it sold had been tested for a variety of genetic defects, but in fact the sperm the Kretchmar’s chose had been donated years before to a different sperm bank and exactly what testing was done (and how it was done) is at issue. The sperm provider carried the gene for CF, as did Sharine Kretchmar herself, though she didn’t know it. The combination of genes meant that Jaxon was born with CF.
As I said in that earlier post, there’s pretty clearly something wrong here–if the sperm bank represented that sperm was tested for CF and it wasn’t, that’s a problem. If it was tested, but not properly, that’s a problem, too. But these problems, though tragic in the individual case, needn’t be systemic.
To her credit, Jacqueline Mroz (the NYT reporter) does focus on the systemic issues and these are of more general importance. There are hard questions to be asked, many of which you’ll find spelled out in the article. How do we ensure follow-up–because sometimes genetic flaws only become apparent years after the provider has donated the sperm? How do we track providers? (That’s part of the too-many-offspring problem.) What testing is mandatory and how do we ensure it is properly done?
I think I’m with Wendy Kramer (founder of Donor Sibling Registry) on this one: There needs to be oversight and regulation. And on that score there’s a hopeful note in the article: At least some of the largest sperm banks are moving in this direction on their own. In this age of increasingly limited government, I’m afraid private solutions may be more promising than hoping for federal regulation.
The story also left me with an array of other thoughts, a couple of which I’ll note here. First, I’ve written before about the trend towards DIY insemination–propelled in part by the ability of people to find their own sperm on-line. This seems like a terribly dangerous idea, although I suppose the risk to any one individual may be low. But then, maybe it’s the same risk you run if you meet someone in a bar and sleep with him and get pregnant.
Second, it’s not clear from the article whether Sharine Kretchmar was offered genetic testing and if so, what testing. After all, we know now that she carried the same gene as the sperm provider. She was apparently unaware of that. Should her doctor, knowing that CF can be carried unwittingly and can cause such damage, have suggested testing for her? If we start down that road, where does it end? What else should we test for? Or at least offer to test for? These are broad and important questions as we consider how to manage genetic testing in the future. You’ll find discussion of this in the comments from the earlier post on this case. I still wonder about the degree to which we ought to offer or insist on testing for people who aren’t the gamete providers. And if you find the CF gene, then what?
And finally, one small detail to unpack. The article includes this sentence:
Donated eggs pose a risk as well, but the threat of genetic harm from sperm donation is arguably much greater.
I think this is potentially misleading. If you are thinking about individuals contemplating the use of third-party eggs or sperm, it seems to me the risk of genetic harm ought to be just about the same either way. As the very next sentence in the article notes,
Sperm donors are no more likely to carry genetic diseases than anybody else . . .
In particular, sperm donors are no more likely to carry genetic diseases than are egg donors. Thus, the odds of getting gametes with defective genes should be about the same no matter what gametes one is getting. (There’s a complication, though, in that sperm stored a long time ago may be less tested–as was the case here. I’m going to skip over that for now.)
The concern about the greater risk from third-party sperm is real if you are focused not on the individual user but on the population as a whole. This, I think, is what the author actually meant, because the rest of the sentence I just quoted is:
. . . but they can father a far greater number of children: 50, 100 or even 150, each a potential inheritor of flawed genes, and each a vector for making those genes more pervasive in the general population.
All of which means that if you read and think carefully this is a good point. I guess I worry, though, that we’re not all careful readers and some will stop at the eye-catching first sentence.