Genetic Screening for Sperm Donors Or For All Of Us?

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.

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20 responses to “Genetic Screening for Sperm Donors Or For All Of Us?

  1. In new york, genetic testing is routinely offered during pregnancy and covered by many insurances. But if people do not wish to abort they will often forego such tests.
    Pre-conception testing is not usually covered but there are some non profit organizations that offer assistance.

    • I assume (but of course, could be wrong) that over time choosing to do at least some genetic testing is more and more common, especially as the risks of testing drop. This might mean that it becomes harder to choose not to do the testing–you might feel like more of an outlier. I don’t know that this does or will happen, but it seems possible to me. And that means more and more testing might become the norm. It’s interesting (and not really comfortable) to think about where that might lead.

  2. Pre-pregnancy testing and or in-depth examination of family health history has been done for long time. The problem with CF being a ressessive (sp?) gene requiring both parents to transmit that gene to the offspring does bring up a problem if no other family member in recent times married someone with the gene as well and had a baby with CF.

    I think the problem comes down to many couples not pre-planning conception and once done it’s a little too late to screen to prevent.

    Julie – I do believe you can if you choose determine how our aunts and uncles died – order their death certificates. Then you have the age of death and cause – both of which are important.

    What this story highlights is the lack of controls or mandatory requirements that also need outside people checking to ensure compliance. That is a shame.

    A couple of years ago when you were talking about the lack of sperm in the UK when they did away with anonymous donation, I commented that bionews was reporting that it wasn’t the lack of known donors it was the rejection of the donors after the screening for hereditary diseases – the percentage rejected has astronomically high. Perhaps they had just recently implemented strong mandated screen protocals.

    • I think your last point must be right and is also really important. As more and more testing becomes available/easy/affordable I’m sure more is done or at least requested and more and more people must fail the testing–which would then mean the rejection rate rises, which in turn means the available pool of providers shrinks.

      There’s a lot tied to this, too. You might be near-sighted and if that matters to people who use the gametes, then that could eliminate you as a donor, even though being near-sighted is hardly the end of the world (she said, being very near-sighted herself.) I mean, once you’re picking your genes it is easy to see that you could become VERY picky.

      I cannot see where this all leads. Surely our capacity for testing will increase. Where does it end? Is this Gattaca–a movie I have never seen but have ordered from the library?

      But at the same time, genetic testing isn’t an exact science. I gather there is enough variation so that the testing for CF may not be totally reliable even if it is done. Maybe it is that there can never be guarantees.

      All of which is to say there is much that will be difficult that lies ahead yet. And it may well lie ahead for everyone, not just those using ART.

      • I had a little boy Sam that died the day he was born. It turned out I have a blood thing called thrombophilia that I knew nothing about. My parents were tested and it was my dad that carried the gene. My next pregnancy with Ruby I had to give myself injections of a blood thinner heparin in my stomach twice a day. That was going along very well until I was like 90 months months pregnant (pregnant for 2 years straight-i have no idea when this was in the process) and I almost lost her because of placenta previa and I almost bled to death. I was put on bed rest to keep Rubitude alive and I get this call from a geneticist at Kaiser telling me the results from my amnio were bad and she had a good chance of downs syndrome. I wanted to kill this broad. How dare she call me like that and tell me something that serious and she was not even my doctor – she’s some city college clinician, not qualified to say what the results really meant and my doctor was on vacation. After all that what was I going to do abort her we worked so hard to keep her in there! My doctor came back and told me not to stress that it was a very slim chance. I have to wonder how many people terminate based on what the genetic counselor says. I was mad – I was on bed rest I was cranky going off about what kind of counselor is she a psychologist? Is she a psychiatrist? A lawyer? Is she going to help me select classes to get into a good University? What qualified her to call me up and sht on my cornflakes? Not a nurse, nope. Nooooooot a doctor, nope. Not even a Bryman medical assistant.

        Its a little bit careless these testing protocols they should tighten it up. Its been 7 years maybe they have.

    • One other quick thing–about ordering death certificates–they are not necessarily a definitive resource. My own mother died of either kidney cancer or liver cancer ten years ago. I was close to her during her last illness but as she was in her late 80s, there was less emphasis on figuring out exactly what was what and more on figuing out how to make her comfortable. The end result is a death certificate that isn’t very helpful. Now I could figure this out for my mother, I think, but for my aunts, who died twenty or more years ago, I think I’d be stuck with the paper and it might not tell me all I needed to know. Or even much I needed to know.

  3. When people are legally obligated to support their own minor offspring they are aware of their offspring’s health conditions at birth. Knowing the health of our offspring from birth forward tells us as much about our own health as our health history tells them about their health future we did not even know we had

    Our health history tells them about their health future, but being informed about the current health of our offspring over the course of their lives can inform us of genetic conditions that we did not even know we had, and that information can help us make decisions that will prevent or minimize our own risks and the risks of our relatives of having problems related to those problematic genetic traits.

    The law requires people to support their own offspring so they generally learn of any genetic problems right away and they are personally responsible for raising a child facing those difficulties. That knowledge will certainly guide future reproductive choices that might include not reproducing again to focus on their one special needs child or making a conscious decision to reproduce again knowing the risks and prepared to follow through and raise another special needs child or choosing to adopt or only reproduce with people that don’t have that particular genetic marker. It would also mean advising other relatives of that they too should be tested or be prepared to raise a special needs child. That knowledge might be really important for doctors prescribing medicine down the line. When people are responsible for their own offspring there is nobody to sue when children are born sick or born with birth defects, there is nobody to get angry at. No people are not going to start screening themselves arbitrarily for genetic problems but I can see where the birth of one child with a problem wiould influence your decisions about having further children and whether or not you’d opt to test the person your reproducing with. The problem is that the law says people who donate their gametes don’t have to behave as if they are responsible for having reproduced themselves, they don’t have to take responsibility for their offspring and so they go on blissfully unaware of the outcome of their reproductive activity. And the clinics for the most part don’t hear back from people once they have the child in hand. You think that the clinic would hear about every birth defect but they don’t. I just recently located the brother of a woman who is donor offspring, her brother was also donnor offspring but he was given up for adoption because he has downs syndrome and her mom did not call up the clinic and tell them that. So who knows how many down’s children that donor produced. There is no telling.

    Its pretty clear that we are trying to make clinics responsible for something they can’t really take responsibility for and that is another person’s obligations to their own family and the children they produce.

    • “So who knows how many down’s children that donor produced. There is no telling.” Except in 1/3 of 2% of Down’s cases, the condition is not hereditary. Since most children who have Down’s are born to women in their 20s, it’s fair to assume that these women will have other children and they shouldn’t be fearful that their next child may have Down’s as well. It’s almost certain the child won’t – unless they fall into that tiny percentage of cases where the condition is hereditary.

    • It’s true that information can flow both ways–you can learn about your own health from your offpsring and vice versa. It’s also true (I think) that if we took time and spent money we could know a great deal more about our own genes than most of us know. What I mean is, you could have more of your own DNA sequenced and you could undergo more screening/testing. Should we? Should we expect and/or require people to do this? Is it responsible to procreate (in any way–as third party provider or as direct user) without knowing what risks you expose the offspring to? I know the answers, I think, but I find myself wondering if these might change.

      I think there is a bit of a false premise built into your account. For many reasons people may not be responsible for the offspring. For instance, if you have very good insurance or if you live in some states and are poor you might find that a pool of people are responsible for financing the care of a seriously disabled offspring. In any event, I’m not sure the financial responsiblity mechanism is adequate to regulate, though I do appreciate your point about the lack of obligation of third-party providers.

      • Its responsible to procreate if you have those problems if your going to be there to deal with the outcome – then the burden of care should there be a need is one you intend to personally oversee. Your not planning to leave it to chance

        • Is it so clear and simple? I wonder. Imagine someone who knew that if they had a genetically related child there was a 90% chance that the child was going to have a very serious affliction that would inevitably kill the child before it turned five or three or some other fairly young age. Further, imagine that the child would require a great deal of medical care. Unless these people are fabulously wealthy, we will all end up supporting this child. Further, countless hours of health care will be devoted to it.

          I think the way things are set up, it’s an individual choice which is what you suggest. But I wonder if it should be. Or I wonder if one should be allowed to opt out of testing.

          If you have a severely disabled child I wonder if it is even possible that you will manage it all with no burden to society as a whole. I don’t mean to suggest that this means society should get to vote, etc. But I just wonder it is as simple as you make it sound.

      • There probably is not much in life that you’d advise your children to do and then say – but don’t look at the results. Right? We generally use the outcome of our actions to guide our future decision making. Its kind of the cornerstone of evolution as well right? Over time animals and plants and the earth keep doing the thing that seems to be most effective, generally, broadly. Applying that to just daily living reproducing is kind of a big deal and not following the outcome will of course leave you without the knowledge you’d normally have to make other decisions with. Sure very poor people and some not so poor need State assistance with the astronomical cost of caring for disabled loved ones. Its true that sometimes people totally abandon disabled loved ones and never visit them, but the norm would be that the parent follows along and makes important decisions on behalf of the disabled person and is an advocate for them. Keeps an eye on the care received, looks for signs of abuse. That is their responsibility generally and so is being warm and loving to the child although there is no law to be enforced there. Other people who are not the parents can do all that for the person and sometimes a whole lot better, DNA is irrelevant in that regard. But the obligation does flow from being responsible for creating the person. Its prudent to keep on top of the results of your actions is all I’m saying. Irresponsible and dangerous not to. Negligent even.

  4. julie please delete the post above or ignore the last paragraph its the chunk from the top repeated at the bottom.

  5. This is sort of like the 150 donor offspring thing where everyone is calling for stricter regulations. Donors and intended parents feel betrayed by the clinic’s they trusted and the public is outraged. Everyone is looking at the clinic as if it were a man who produced 150 children with a harem or as if it sold too much product or produced too many goods. People sue each other over excess sperm and embryos and unless I’m mistaken they use property law to divvy the stuff up.

    In real life there is nobody to blame when you have a child with a genetic defect. You and the other parent go through it together raise the child and meet those challenges as that child’s parents whether you like one another or not whether you are married or not. In real life there are people who abandon their kids or who just won’t stop reproducing and never start providing any support. Those kids with that kind of neglectful parent may not know the identities of all their siblings because they are not the only neglected child that parent has, Its not uncommon for a person to find out they have one or two or even three siblings they knew nothing about , but the reason they knew nothing of their siblings is because a crime was committed and they were the victims. They were abandoned and so were their siblings. In real life we might be able to find one father supporting 150 offspring or caring for 5 offspring with cystic fibrosis but its not going to be common.

    If donors had to take responsibility for the outcome of their reproductive behavior like everyone else stories like this would not be in the news. We would not be trying to calculate the acceptable number of unknown siblings based on the likelihood that they might meet and produce children together. There is no acceptable number of unknown siblings, your suppose to know all of them by sight. At least that is the result when people who reproduce follow the law and support their offspring. There would be none of this not knowing that offspring were born with a disease because the mother took the kid and never told the father the outcome because that would be kidnapping.

    This is why I say these clinics are not selling product they are running a mating service. They offer an array of people to reproduce with and the customer selects one and mates with that person with the assistance of a third party in a lab. The clinic is not manufacturing the the donor or the sperm, how can they be held responsible? They are providing a service where people who want to reproduce can connect and make offspring. Do people sue EHarmony if their kid comes out with cystic fibrosis?

    • It might be true that if providers had to take responsiblity (fiscal or otherwise) for their offspring than this would change the operation of the industry. It’s also true that if you made use of third-party gametes illegal it would change the industry. But it doesn’t mean these are the only solutions or the best solutions. If you think there is no particular positive value to having a supply of third-party gametes, then that is going to shape how you evaluate possible solutions.

      It also seems to me that we could come to–maybe have come to–the day when we would say it is irresponsible for people to procreate–even the plain old sex way–if they know with a high degree of certainty that there is a strong likelihood that their offspring will be seriously afflicted. This is the curse of knowledge, I think. If you didn’t know, that was one thing. If you do, that’s qutie another. And if you could have but chose not to? Another again.

      • No I think that is BS. The state can’t tell people whether they can or cannot procreate but it can tell them to take care of the offspring they create because their kids are their problem and they cannot expect other people will want to do it for them. The law has to make people responsible for raising their own offspring or it would be chaos. There has to be a formal way for them to transfer that responsibility and there has to be some consequences if the don’t transfer that parental obligation in a responsible and thoughtful way. As long as people take that risk prepared to deal with a less than ideal outcome themselves then of course its their own business if they reproduce.

        The idea that we should only be allowed to create perfect people is absurd. We’d go extinct excluding all the various perceived imperfections. We just might.

        • Why is it that the state can tell people to take care of the kids they create but it cannot tell them whether or not to create them? Where does that rule come from? I realize that it might be current law, but that’s not a justification for it.

          I understand this is all science fiction and perhaps some it is also dystopian, but other arrangments are possible. They have plusses and minuses, as does our system.

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